She’d hold his hand and talk to him during the sudden stiffness or muscle spasms and blank stare. She made sure he wasn’t choking. She stayed calm.

And whenever Luke had to be hospitalized at Cook Children’s Medical Center – Fort Worth, Lexi visited as much as she could. She got to know the neurology nurses, cuddled her favorite therapy dog, and watched as the staff treated Luke with innovative procedures and kindness.

Details that cater to kids made an impression on Lexi under the Blue Peaks. From the playroom to the holographic fairy on the wall … Cook Children’s was magical in her eyes. 

Lexi can’t remember a time she didn’t want to be a nurse. And she found her perfect fit in February 2025 when she started working as a registered nurse in familiar territory: the Cook Children’s neurology department. No longer a visitor, Lexi made Cook Children’s her workplace home. 

For more than a decade while they lived under the same roof, Lexi assisted her brother when his seizures flared up. That experience in caregiving gave Lexi a soft heart and a skillset that she now puts into practice caring for others. Seizures don’t intimidate her. She also sees the world through the eyes of patients’ siblings; she understands their questions and concerns.

“I love pediatric nursing. Children are resilient. They can go through so much, and their little bodies are so tired, but they bounce back and they handle it like champs,” she said. “I love taking care of the patients and their families, talking them through diagnosis, through treatment plans, everything.”

Lexi’s presence by Luke’s side has comforted him during countless seizures over the years. And if you ask Luke what makes his sister a great nurse, he’ll tell you: “Because she cares.”

Onset of Epilepsy

Seizures are caused by abnormal electrical bursts in the brain. Luke was 5 years old and Lexi was 11 in 2013 when his first seizure happened during a Mario Kart video game at their home in Arlington.

“I tried to hand him the remote, and he just couldn’t pay attention, and he couldn’t hear me,” she said. “I ran to get Mom in the other room, and by the time I came back, he was blue and shaking on the ground.” 

Luke rode by ambulance to Cook Children’s, the first of many hospitalizations. His seizures began to occur multiple times a day, sometimes in frequent clusters that medication couldn’t control. He was diagnosed with a severe form of epilepsy called Lennox-Gastaut Syndrome (LGS).  

As a teen Lexi helped their mom, Ami Waggoner, do research on Luke’s disorder. Lexi lived in the same house with her brother and parents for about 10 years after his epilepsy symptoms started. If she was around when Luke had a seizure, Lexi stepped up. She knew her role: keep Luke safe and keep him company until the seizure passed. She’d ask him to squeeze her hand or give a thumbs up if he couldn’t speak. Sometimes she’d record a video of the seizure to show his doctors. 

Ami, who is also a nurse, noticed maturity and nursing traits in Lexi from an early age. A few examples:

• At home whenever Luke had a seizure, Lexi knew where to find the rescue medications and the steps to follow.

• As a softball player and busy teen, Lexi made time after school to hang out with Luke when he was hospitalized.   

• As a volunteer at monthly neurology support group for Cook Children’s families, she provided crafts and activities for children while their parents attended the meetings. The parents knew Lexi was comfortable around seizures, and they trusted her.

Lexi’s face is Luke’s favorite sight to see when he comes out of a seizure, their mom said. Lexi always responded to her brother’s medical needs by keeping her cool and encouraging him every step of the way.  

Choosing Cook Children’s

Lexi worked as a patient care technician while attending the Tarrant County College nursing program. Her first nursing job was at another Fort Worth hospital. But while attending the 2024 Christmas party for neurology patient families at Cook Children’s, she realized she missed the magic. She wanted to work at Cook Children’s.

Ami remembers what Lexi said after deciding to work with pediatric patients like Luke. I think this is my place. This is what I feel like I'm made for.

When Lexi pivoted in her nursing career to join Cook Children’s Neurology, her mother saw all the pieces fall into place. “So yeah, I’m extremely proud,” Ami said. “It’s grown into this amazing thing where she wants to help so many others.”

Lexi works night shift on the medical center’s fourth floor, which includes the epilepsy monitoring unit. Some of her colleagues have helped care for Luke through the years. If Luke is admitted, Lexi can’t be his nurse.

During her teenage years she absorbed the Cook Children’s culture each time she visited her brother in the hospital. She saw nurses practicing safety, respect, generosity and other values. She felt the impact of family-centered care. Now, in a journey that’s come full circle, she’s back at Cook Children’s and paying it forward.

“I definitely have a passion for epilepsy. I have a passion for finding the cure. I have a passion for helping out the siblings on our unit as well,” she said.

When she encounters a patient’s sibling, she checks to make sure they’re OK. Lexi takes time to explain whatever medical procedure their brother or sister is undergoing, like the electrodes hooked up for electroencephalogram (EEG) monitoring.  

Lisa Mayfield, RN got to know Lexi while taking care of Luke for many years on the epilepsy unit at Cook Children’s. She remembers Lexi cheering him up by bringing his favorite snacks, watching movies with him and walking with him around the unit. His seizures didn’t rattle her.

“I was beyond excited when Lexi joined our team,” Lisa said. “She has a unique prospective that she can share with her patients and their families. She has empathy and an understanding that is unique to families that live with epilepsy every day but don’t let it define them. Lexi is an amazing nurse with critical thinking beyond her years. I am excited to watch her continue to grow in the field that she has been training for her whole life.”

When a new patient comes in, Lexi wants the family to know they’ll get the best neurology care possible from a team that delivers on the Cook Children’s Promise to do everything for the child. 

Celebrate the Struggle

Now age 18, Luke still experiences seizures every day. But his health and quality of life have improved thanks to a 2021 surgery at Cook Children’s that implanted a deep brain stimulation (DBS) tool. DBS -- a network of devices and wires -- sends small electrical impulses to specific areas of Luke’s brain. It’s designed to keep the worst seizure activity under control.

Luke’s parents collaborate with epileptologists Cynthia Keator, M.D. and  Jaehyung Lim, M.D., who oversees the DBS, and the specialists at the Jane and John Justin Neurosciences Center at Cook Children’s. They closely monitor how he tolerates different electrical amplitudes and speeds, and make adjustments as needed.

Because of DBS, Luke was able to cut back on medication. He can think more clearly. He’s more energetic.

The Waggoner family has the confidence to travel on vacations they couldn’t take prior to Luke’s DBS surgery. They appreciate the things Luke enjoys, especially trains and trips to the zoo. Their family motto? Celebrate the Struggle.  

“Living with Luke taught me to make the best of any situation. He always has a positive attitude,” Lexi said. “Even though I’ve moved out, Luke is still such a big part of my life. We’re very, very close. I’m thankful that he is doing as good as he is right now, and I love to spend time with him.”

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Following treatment, children experienced fewer seizures and demonstrated improved communication and other developmental skills – outcomes not generally possible with typical antiseizure medications.

Researchers at Cook Children’s played a key role in the clinical trials that led to these findings, which were published in a March 2026 article in the New England Journal of Medicine (NEJM). Pediatric epileptologist M. Scott Perry, M.D., head of Neurosciences and director of the Justin Institute at Cook Children’s, co-authored the article and served as the lead investigator for one of the pivotal studies.

Dravet syndrome affects about 20,000 people in the United States. It causes seizures and problems with speech, sleep, development, intellectual abilities and more. About 100-125 patients from across the country come to Fort Worth seeking out Cook Children’s nationally recognized expertise in Dravet syndrome care.

Two initial studies – called MONARCH and ADMIRAL – enrolled 81 patients at multiple sites, including four patients at Cook Children’s. Two extension studies – SWALLOWTAIL and LONGWING – enrolled 75 patients. Dr. Perry served as lead investigator of SWALLOWTAIL.

The primary purpose of the studies was to assess the safety of zorevunersen, a medication administered via spinal tap. Participants received different amounts to help determine an optimal dosage that works safely and effectively.

The results are exciting, Dr. Perry said, because they indicate zorevunersen modifies Dravet syndrome by targeting the root cause. Study participants had fewer seizures and improvement in decision making, social interaction, communication, motor skills and other adaptive behaviors. 

“We have a treatment which at least in early phase studies shows the potential to address the underlying genetic reason for the condition and as a result bring about improvements in the symptoms and frankly change the course of the condition for the patient, which is a considerable advancement over what we currently have available,” Dr. Perry said. 

Adverse side effects were mostly mild or moderate, including elevated protein in the cerebrospinal fluid and pain after the spinal tap procedure.

Understanding Dravet

Most people diagnosed with Dravet syndrome have a mutation in the SCN1A gene that disrupts the production of normally functioning sodium channel proteins in the brain. The sodium channel is essential for neurons to fire appropriately. Seizures occur when the electrical flow misfires.

Antiseizure medication is currently the standard of care. But antiseizure medications don’t always control the seizures. And even when the frequency of seizures drops off, the patient’s cognitive delays and other symptoms don’t necessarily improve. 

“Dravet is a condition called a developmental and epileptic encephalopathy, which means the seizures themselves cause problems, but the underlying reasons for the seizures also cause problems,” Dr. Perry said. “This drug aims to address that by treating the actual genetic abnormality. And when you correct the gene that causes the problem, now you can improve seizures and the nonseizure symptoms that come with it.”

While one copy of the gene produces good proteins, Dr. Perry explained, the mutated version found in Dravet makes proteins that don’t function effectively. Zorevunersen is a precision medicine that capitalizes on the healthy copy of SCN1A.

How does it work? Ribosomes are the part of the cells that read messenger RNA (mRNA), which Dr. Perry described as the recipe that forms the sodium channel. Zorevunersen prompts the ribosomes to skip over the portion of mRNA that discards both healthy and unhealthy copies of the gene. No longer discarded, more healthy copies are available to create more functioning sodium channel proteins.  

Methods and Findings

Patients with Dravet syndrome from ages 2-18 years participated in the MONARCH, ADMIRAL, SWALLOWTAIL and LONGWING trials beginning in June 2020. Eighty-one percent of participants were taking three or more antiseizure medications prior to their first dose of zorevunersen.

The main objective was evaluating the safety of the trial therapy. Patients received one or more doses ranging from 10 milligrams to 70 mg. Data showed a reduction in seizures compared to the patients’ baseline numbers.  

“What we determine from these studies is that initial doses of 70 mg performed better than any of the lower doses,” Dr. Perry said. “People who got multiple doses of 70 mg did better than people who got single doses. People who got two doses of 70 mg did similarly to people who got three. That’s why we’ve chosen two 70 mg doses as the loading dose for the ongoing phase 3 clinical trial.” 

Participants in the extension studies followed up by receiving doses up to 45 mg every four months. At that level, they continued to maintain the similar reduction in seizures, he said.

Changes in adaptive behaviors and quality of life were measured by various scales based on impressions from clinicians and caregivers. Improvements were reported across the board. 

Biotechnology company Stoke Therapeutics, Inc. opened the next phase of the trial, called EMPEROR, in August 2025. Participants will receive either zorevunersen or no treatment in four spinal taps over a 52-week period.

Dr. Perry said inclusion in the NEJM article shows Cook Children’s is making a significant contribution to a big advancement in Dravet syndrome care. By joining clinical trials, research sites help find solutions and hope for patients with complex conditions.

“Cook Children’s does meaningful research. This is clinical trial work developing novel new therapies for devastating diseases,” he said. “Cook Children’s played a key role in the development of this treatment, and the NEJM is an incredibly prestigious journal. It’s a big deal for Cook Children’s to be a major contributor to such a huge contribution to science.”

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Shanley Stuteville, 25, has been a lifelong patient at Cook Children’s after she was diagnosed with epilepsy at 3 years old. When she was 19, she underwent life-changing lesionectomy surgery and hasn’t had a seizure since 2020. This year, she decided to give back to the community of patients at Cook Children’s while also pursuing her dream to help others.

Shanley was first brought to Cook Children’s by ambulance after her first seizure. She had many neurology appointments with Howard Kelfer, M.D., who became her primary care doctor.

When epilepsy surgery became an option, she also started seeing Scott Perry, M.D., pediatric epileptologist and Medical Director of Neurology for Cook Children’s. Cook Children’s has a Level 4 Epilepsy Center.

“I can’t imagine what things would’ve been like if I hadn’t had Cook Children’s on my side throughout this journey. I truly can’t say enough about how incredible the doctors and staff have been to me since I was a child,” Shanley said.

Experiencing testing in Cook Children’s Epilepsy Monitoring Unit

To pinpoint where her seizures stemmed from in the brain, Shanley stayed in the Cook Children’s Epilepsy Monitoring Unit (EMU).

“I knew when I first met Shanley that I could help her,” Dr. Perry said. “Her focal seizures were clearly coming from a single area of abnormality in her brain that I felt confident we could safely remove.”

Staying a few days in the EMU can be scary and Cook Children’s does all they can to make the experience feel as safe as possible. Shanley has a loving support system of family and friends, which makes all the difference in experiencing life with seizures, the side effects of seizures and medications, and the limitations that epilepsy can bring.

“Whenever I would have to stay up all night prior to the EEG testing, my family would make a fun themed party out of it and we would stay up watching movies and playing games. My friends also came to visit and everyone’s support made all the difference for me,” Shanley said.

Having epilepsy surgery

Shanley went through necessary testing to be considered for epilepsy surgery of a lesionectomy, which removes a lesion or abnormality in the brain.  For a long time, she thought she would never be a candidate so when she found out she was, she and her family were so grateful they had finally found hope to control her seizures.

“I had never been so confident that I wanted to do something in my entire life. To have a chance of recovering from epilepsy was incredible and something I couldn’t pass up,” she said.

The surgery process went smoothly for Shanley and even Dr. Perry noticed how comfortable she felt about the surgery.

“I recognized immediately her engagement in the surgical process and how she could change how people view epilepsy surgery when she shared her plans to create a children’s book about visiting the epilepsy monitoring unit,” Dr. Perry said. “The book she and her aunt created was amazing.”

How epilepsy surgery changed Shanley’s life

Shanley has been seizure-free since July 2020. It has been a wonderful four years for her with some challenges as well. Deciding to slowly reduce epilepsy medication after brain surgery is common for a lot of people and she experienced side-effects like anxiety as well as learning how to suddenly live her life without epilepsy anymore. She had to grow her inner confidence again and learn how to live with how her brain worked differently.

Even with the challenges, she’s so glad she chose to have surgery and experience the transformation it has made in her life. In fact, she is currently studying and plans to graduate with a Master’s degree in psychology in May 2025.

 “To see her all these years later, seizure-free and living out her own dreams means everything to me,” Dr. Perry said. “Personally, it gives meaning to what I do daily. But to then know she is pursuing psychology is even more impactful given how often children with epilepsy need the services of psychology. I can only hope we get Shanley to come back to work for us.”

Shanley’s love of art and donation to the “neuro art collection”

Shanley has been creating art since she was very young. Her favorite kinds of art include mixed media illustrations with colored pencils and gouache paint, or digital art like the piece she created for the “neuro art collection” at the Jane and John Justin Institute for Mind Health which was started by Dr. Perry.

“Shanley’s donation to the neuro art collection is exactly what I envisioned when my wife and I first commissioned the original art collection. I knew that the neuroscience community was full of artistic and creative people. I knew their art could inspire others and I hoped that my own patients would one day give back to our collection. Shanley is the first former patient to contribute her talents to our collection and the first former patient to benefit all the patients that come behind her,” Dr. Perry said.

Shanley’s intention with the piece she’s donating is to give people the feeling of hope. With her experiences living with epilepsy, her surgery and all of the ups and downs of life, she’s always tried to look for the “rainbow after the storm” and hopes to convey that in her art.

Hope for the future and advice for people battling epilepsy

With her goal of getting a degree in psychology next year, Shanley plans to have the opportunity to work with children who have chronic neurological disorders like epilepsy. For a long time, doctors have only treated epilepsy symptoms, not the emotional, social and psychological challenges that living with epilepsy creates. She also wants to help people who’ve had challenges readjusting to life after their long-term disorder is suddenly gone.

Shanley thinks it’s important for people battling epilepsy to remember they are not their disorder. Living with epilepsy and experiencing surgery has helped Shanley become even more empathetic. She encourages people to look for the positive and for opportunities wherever they can, to lean into what they love and to remember that they aren’t alone.

One in 26. That’s the number of people who will develop epilepsy in their lifetime. Each November, Cook Children’s Comprehensive Epilepsy Program creates original T-shirt designs to raise epilepsy awareness. This year’s theme is “Lights, camera, take action!”

Megan was the “one.” She was born in 1997. Her mom, Mary Overfield, had a healthy full-term pregnancy. However, shortly after birth, Megan began experiencing infantile spasms and was later diagnosed with a rare form of epilepsy, Lennox-Gastaut Syndrome (LGS), at 4 years old. At 16, genetic testing revealed that Megan also had a rare genetic anomaly known as PURA Syndrome.

“Megan was included in the first genetic study of this particular anomaly at Baylor College of Medicine in 2014 which became identified as PURA syndrome,” Mary said.

Sadly, Megan passed away earlier this year at the age of 26. Despite her struggles with LGS and other medical complexities, Mary said Megan was a bright light in her life – as well as the lives of her husband, Dane, and their older daughter, Emily.

“She always showed the strongest spirit,” Mary said, “Megan taught all three of us many important life lessons without ever saying a word.”

While Megan never received care at Cook Children’s, her family had a special bond with Cook through the annual epilepsy awareness T-shirt campaign. This year’s design celebrates that connection and Megan’s story.

Parenting a child with special health care needs

Being a specialized caregiver around the clock can be very isolating and take a toll on one’s health. Mary said she joined Twitter (now X) shortly after its launch when Megan’s health care team recommended social media as a way to connect with other families facing similar challenges.

“I found a great deal of support on Twitter, connecting with foundations, epileptologists, medical professionals and other families like ours,” Mary said. “I started feeling less isolated in my parenting journey. Our family connected with the LGS Foundation and found Executive Director Tracy Dixon-Salazar, among others there, to be an amazing source of helpful information, understanding and support.”

Discovering Cook Children’s and raising epilepsy awareness

Mary and Emily have been raising epilepsy awareness for many years. They came across M. Scott Perry, M.D., a pediatric epileptologist and head of Neurosciences at the Jane and John Justin Institute for Mind Health at Cook Children’s, on social media. Dr. Perry's annual T-shirt fundraiser each fall raises epilepsy awareness and support for Cook Children’s Comprehensive Epilepsy Program. 

“We purchased Dr. Perry’s first epilepsy awareness T-shirts years ago and every fall we eagerly await to learn the unique themes and designs for his annual T-shirt fundraiser with Cook Children’s,” Mary said.

International LGS Awareness Day

November is National Epilepsy Awareness Month and November 1^st is International LGS Awareness Day and Illuminate for LGS Awareness. Mary and her family illuminate their home with purple lights all month to educate and raise awareness for epilepsy and LGS.

“Megan always had purple string lights hung above her bed for the month of November and we have purple outdoor lights as well as our LGS awareness yard sign for the whole month,” Mary said. “Emily wears—and Megan also wore—the annual T-shirts designed by Dr. Perry and the LGS Foundation. Emily has always been a fierce advocate for her sister, including her in as much of life as possible and continues raising awareness for rare epilepsies.”

Mary and her family live in Rochester, New York, and she said the city also lights up for LGS in purple and green lights on November 1.

“We feel it is important to raise awareness as the experts work towards a cure for rare epilepsies,” Mary said.

LGS clinical studies

With Megan experiencing LGS and PURA syndrome, she has contributed to a handful of clinical studies.  

“Megan participated in multiple clinical trials for new antiseizure medications (ASMs) over the years as we feel both research and seizure cessation are integral to ending rare epilepsies,” Mary said.

At Cook Children's, Cynthia Keator, M.D., Medical Director of Neurology at the Justin Institute, was recently awarded an Endowed Chair from the W.I. Cook Foundation for her proposal to establish a Lennox-Gastaut Syndrome Center of Excellence.

Through this clinical program, Dr. Keator aims to create a natural history study to better define the course of epilepsy and other non-seizure symptoms of LGS. She’s also working with the Pediatric Epilepsy Research Consortium (PERC) to develop a national consensus on LGS treatment and care. The goal is to bring attention to health care decisions and co-existing conditions, or comorbidities, not targeted by current therapies in LGS as well as support needs for preventative intervention to develop new guidelines, treatments and protocols.

Advice for other families

Reaching out to organizations like the LGS Foundation and staying educated can help families feel connected and understood in their own journeys. Mary also encourages families to take life one day at a time and to enjoy the “infrequent, but happy moments when they occur.”

“Megan enjoyed numbers and counting, reading books, playing her chimes and many other simple joys in life,” Mary said. “She always reminded us to enjoy the little things, especially when she was powering through a particularly hard seizure day. Dane and I agree that we would all be very different people had Megan not been born into our lives.”

Remembering Megan

Mary and her family feel fortunate that they had 26 more years with Megan than they were promised when she was born.

“Although her time on earth was short in quantity, we tried our best to ensure it was long in quality,” Mary said.

Mary believes her family is fortunate they met so many amazing people throughout Megan’s life including gaining “extended family members” for whom they care deeply.

“If it weren’t for Megan, we would not have crossed paths with amazing humans like Dr. Perry and many others in the rare epilepsy realm. For that gift from Megan alone, we are especially grateful.”

Connect with Mary

To connect with others who have experience living with LGS in their families, consider following Mary on X (Twitter) and Instagram.

Support Cook Children's Epilepsy Awareness

To purchase a Cook Children’s 2024 epilepsy awareness T-shirt, please visit Under the Peaks retail shop at Cook Children’s Medical Center - Fort Worth, or call 682-885-7325. If you live outside of the area, you may order your T-shirt online here: https://www.customink.com/fundraising/1in26-2024

Children with a rare and difficult-to-control form of epilepsy called Dravet syndrome have new hope thanks to landmark research data showing the effectiveness of an RNA-based medicine, STK-001, to improve seizure control and modify disease progression.

The breakthrough was announced in March by Stoke Therapeutics, Inc., the company testing the use of STK-001. Data from a trial called MONARCH and study called SWALLOWTAIL showed that children and adolescents 2 to 18 years of age with Dravet syndrome who were treated with the medicine experienced a reduction in the number of convulsive seizures. They also showed improvement in other conditions that commonly result from Dravet syndrome such as developmental delays, speech and language problems, and balance and walking issues.

Four children with Dravet syndrome treated at Cook Children's Jane and John Justin Institute for Mind Health participated in one or more of the trials. M. Scott Perry, M.D., epileptologist and head of the Justin Institute, is the lead investigator for the SWALLOWTAIL trial.

The MONARCH trial studied the safety and effectiveness of the medicine. Following the completion of MONARCH, qualifying patients could also join the SWALLOWTAIL trial studying the long-term safety and tolerability of repeat doses of the drug. The SWALLOWTAIL study is ongoing.

“What the data tells us is that this medicine has the potential to be disease-modifying, meaning it changes the course of the disease over just treating the seizures,” Dr. Perry said. “In the world of epilepsy, the treatments we have are primarily symptom-treating. We treat the seizures, which are a symptom of the epilepsy, but we don't necessarily correct the underlying problem unless we’re talking about a lesion on the brain that can be surgically removed. Dravet syndrome is caused by a mutation in the SCN1A gene, so this treatment works on the gene itself to correct the problem and improve some of the comorbid conditions.” 

Understanding Dravet Syndrome

Genes are segments of DNA that contain instructions for building proteins, which are essential for the structure and function of the body. Because humans inherit two copies of most genes, one from each parent, individuals with Dravet syndrome typically have one normal copy and one mutated copy of SCN1A. This gene provides instructions for making a sodium channel protein that is critical for the normal function of brain cells. Mutations in one copy of the gene can lead to the production of defective sodium channels, which disrupt the electrical activity of neurons and contribute to seizures and other Dravet syndrome symptoms.

Our DNA produces a molecule called messenger RNA (mRNA). It acts as the intermediary between DNA and protein synthesis by carrying genetic information from DNA to the protein-making machinery within a cell. It also plays a role in the regulation of protein production and will sometimes instruct the body to discard copies of genes, even if those genes are healthy. In this case, copies of the SCN1A gene.

The STK-001 medicine works by introducing a synthetic material called antisense oligonucleotide (ASO) that binds to mRNA and stops it from discarding gene copies, whether they're good or bad. By keeping all healthy gene copies from one SCN1A gene, more functional proteins are produced, essentially making up the loss caused by dysfunctional copies of the gene.

“So all of the mutated copies get made and all of the healthy copies get made, and it's okay that the mutated copies get made because they don't work,” Dr. Perry said. “By keeping all of the healthy copies, we effectively can replace the 50% that were non-functional from the mutated gene by making everything from the healthy version.”

While ASO technology has been used for many years to treat other genetic disorders, like spinal muscular atrophy, this is the first treatment of its kind for epilepsy.

“It's a big deal to have a precision medicine therapy meant to treat the underlying problem,” Dr. Perry said. “If you do this kind of treatment early on in life before a child starts to have developmental delays, you might be able to prevent some of the significant developmental and behavioral problems typical in Dravet syndrome patients. It's harder to reverse things once a child is already behind, but imagine if we could do this early on and avoid getting behind to begin with.”

Team Approach

Participation in these trials requires collaboration between multiple specialties, which is something the Justin Institute for Mind Health is uniquely designed for. The Institute connects nine specialties that treat the mind and nervous system under one roof, including Neuropsychology, which performs the cognitive developmental testing required for the trial. Administration of STK-001 also requires support from the Anesthesia department as the drug is given every four months via a spinal tap while often under sedation.

STK-001 has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA), and rare pediatric disease designation by the FDA as a potential new treatment for Dravet syndrome, according to Stoke Therapeutics, Inc.

Dr. Perry expects that this type of ASO therapy will be replicated for other genetic epilepsies and gene mutations in the future.

Whenever Luke Waggoner’s seizures start ramping up, his mom Ami can make a switch on her phone that changes the rhythm of electrical activity delivered to his brain.

Inside Luke’s body is a network of tech devices and wires – running from his head to his abdomen – designed to help control his seizures. Deep brain stimulation (DBS) isn’t a cure for his type of epilepsy. Instead, it’s an adaptable tool used to keep Luke’s worst seizures from getting out of hand.

Ami is amazed at how much Luke’s health and quality of life have improved since July 2021, when neurosurgeon John Honeycutt, M.D. placed a pulse generator in his chest delivering electrical impulses to leads implanted in his brain.

Prior to receiving the DBS system, cluster seizures caused Luke to need emergency care at the hospital several times a month. Now, at age 16, he still has seizures every day. But the seizures no longer escalate to the point where he has to be hospitalized.

"Just to keep us out of the hospital has been amazing,” Ami said. “It’s been a life-changer for Luke.”

Luke’s family in Arlington works closely with the specialists at the Jane and John Justin Neurosciences Center at Cook Children’s in Fort Worth. They communicate frequently to track how Luke responds to different DBS settings. 

Warren Marks, M.D., director of the Movement Disorders Program at Cook Children’s, described DBS as a way to send small electrical impulses to specific areas of the brain. That stimulation affects the abnormal electrical bursts that cause seizures in Luke and other people with epilepsy. In simplest terms … DBS changes the brain’s electrical waves in hopes of reducing the misfires that lead to seizures. 

“I would think about DBS as being similar to medications, except it’s extremely targeted. Therefore, you can reduce most of the side effects that you see with medication,” Dr. Marks said. “We’re putting the impulses only where we want the impulses to be. We are not bathing the brain with electricity like we bathe the brain when we give medications.”   

Luke takes four medications daily, down from five prior to starting DBS.  Those meds likely contribute to Luke’s grogginess and slurred speech. That’s why his family and doctors hope he’ll be able to scale back even more on the dosage, as long as DBS continues to be effective. 

Cynthia Keator, M.D., medical director of the Epilepsy Monitoring Unit at Cook Children’s, said DBS not only gives Luke better seizure control, but clearer thinking and more independence. She said yes last year when Luke asked her if he could go to Disneyland, the farthest he’s ever traveled from Cook Children’s.

“The impact of this is not just immediate, but it’s continued,” Dr. Keator said. “Granted, he still has seizures, but the improvement is giving him freedom that he didn’t have before.”

An epilepsy awareness campaign called Purple Day occurs every year on March 26. On this Purple Day we wanted to highlight the resilience that Luke and his family have shown in managing his care collaboratively with their medical team. Here’s the update.

Treatments for Epilepsy

The U.S. Centers for Disease Control and Prevention estimates that 370,000 children nationwide have epilepsy. The chronic disorder has no cure and often no identifiable cause.

Luke was diagnosed at age 5 with generalized epilepsy affecting both hemispheres of his brain. He experiences a variety of seizures; they might cause muscle spasms, sudden stiffness, or blank staring into space. Sometimes Luke won’t be able to speak, but he can give a thumbs up. 

Medication successfully controls the seizures in up to 80% of children with epilepsy. But not in Luke’s case. He has Lennox-Gastaut syndrome, which is especially difficult to control. He received a vagus nerve stimulator (VNS), a pacemaker-like device implanted in his chest. Even with the VNS and medications, Luke continued the cycle of big seizures and frequent hospitalization. 

By 2021 it looked like Luke’s next course would be a corpus callosotomy, an irreversible procedure. Corpus callosotomy severs most of the connections between the two halves of the brain, aiming to prevent the most dangerous and disabling seizures. That’s when the doctors at Cook Children’s proposed a less invasive option. 

That option was DBS, which the movement disorders specialists at Cook Children’s had already utilized since 2007 for about 150 patients with a condition called dystonia. DBS would be a new therapy for pediatric epilepsy. The Waggoners agreed to give it a try.

So in July 2021, Luke became the first pediatric patient in North Texas to undergo DBS for intractable epilepsy. He’s believed to be the first child in the United States to receive a newly approved sensing lead technology DBS system for epilepsy.

The network has three main components:

• Leads (pronounced “leeds”) – tiny electrodes embedded in Luke’s thalamus, the brain’s relay center for transmitting signals. The leads deliver electricity directly to the source of his disruptive waves. They’re held in place by caps screwed into Luke’s skull.
• Generator – a mini-computer under the skin of Luke’s abdomen. Wires run from the generator through his neck to connect to the leads.
• Programmer – a tablet that regulates the strength and frequency of electrical impulses per second. When he needs an adjustment, Luke holds the programmer at his abdomen, next to the generator, and his mom changes the setting from her phone. 

“With a corpus callosotomy, you essentially take out most of the connections between the two halves of the brain so that they can’t cross signals from one side to the other,” Dr. Marks said. “What we tried to do with the DBS is to simulate that electrically without going through the actual surgical disconnection.”   

Showing Improvement

Dr. Marks and Dr. Keator continue to monitor Luke to determine his tolerance for different electrical amplitudes and speeds. When the Waggoners go in for appointments, Dr. Marks will tweak the settings on Ami’s phone to try new modes, such as synchronized versus non-synchronized.

Ami said Luke reacts best to high speed and high amplitude settings. But turning the device too high also causes problems. Luke had jerky legs, pain in his teeth and trouble sleeping when the amplitude was too much. 

His mom knows to change the mode whenever Luke’s seizures start to cluster. It usually happens every three or four weeks.

“All you’re trying to do with those different synchronizations is trick the brain into stopping the seizures,” she said.

She doesn’t rush into mode changes because there are temporary side effects to making the switch. She waits at first to see if the seizures ease up on their own. Meanwhile, she always takes detailed notes to track Luke’s condition.

“It’s a whole lot of trial and error and a huge communication between me and the physicians,” she said of DBS. “And it’s a huge commitment for the family. It’s not just something you set and forget.”

Luke, who is homeschooled, has some cognitive delays. His mom says he’s on the level of about 7 or 8 years old. He tires quickly and has trouble with coordination of his leg muscles, so he sometimes uses a wheelchair.

With new energy thanks to DBS, Luke has been able to get out more. He likes visiting museums, playing Miracle League baseball and exploring his passion for trains. The family’s 2023 trip to Disneyland had a few hiccups, but gave them the confidence to travel again.

Ami would advise other parents to look into the therapy -- but understand that it’s a risk and an ongoing commitment. A family considering DBS would also need a strong relationship with their child’s medical team.

“You have to be really, really patient,” Ami said. “Don’t be afraid, but just go into it knowing it’s a lot of work, and it’s not curative. If it has the success that it had on Luke, it’s so worth it.”

She thanked the Cook Children’s neurology staff for never giving up on Luke.

“He amazes me every day. He is a true blessing! He is where he is today because of the great care he has received and continues to receive at Cook Children’s,” she said. “This isn’t easy, but we find joy every moment of every day.”

Dr. Keator and Dr. Marks, meanwhile, weren’t sure what to expect from DBS in an epilepsy patient. They’re both pleased with Luke’s outcome so far. And they predict that the therapy for future patients will continue to be refined as the data and research progress.  

“We have to remember to thank Luke and his family for wanting to try this,” Dr. Marks said. “We are learning as much as they are about this, and so this is definitely a journey we are taking together.”

Dr. Keator pointed out Luke’s sense of humor and cooperative spirit.

“He’s fun and full of life, and no challenge is too big,” Dr. Keator said. “He is just always up for anything that we throw at him. He’s an incredible person.”

Family Advisory Council

Cook Children’s Health Care System has almost 20 Family Advisory Councils that give input and share ideas for improvements. The councils are made up of trained volunteers, mostly moms, who advocate for patients and one another.

The Neurology Family Advisory Council went inactive a few years ago early into the COVID-19 pandemic. But Ami Waggoner’s bringing it back. Ami previously served on the Medical Family Advisory Council and now has ideas for neurology, especially in regard to staff recognition, donations and parent mentoring. Her experiences seeking epilepsy care for Luke have given her some perspectives that could benefit others at Cook Children’s, she said. 

“This isn't an easy journey,” Ami said. “What's made it easier for us is we found our community now. I feel like there's strength in numbers. And we're all here to just make it best for our families and our children.”

Natalie Dorsey, coordinator for the Parents as Partners program at Cook Children’s, said proposals from the various Family Advisory Councils have yielded new educational resources, welcome folders, open house events, newsletters and more. Volunteers must be objective, protective of confidentiality, good listeners, empathic and passionate for Cook Children’s.

Dorsey said the role of the Family Advisory Councils helps ensure that Cook Children’s continues to provide exceptional care. 

“’I feel heard, I feel respected, I feel dignified. I feel like I'm on a team here.’ Those are the things our parents say all the time,” Dorsey said. “And if we didn't have councils, I don't think we would have that same environment.”

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Cooper Jeffcoat was a 15-year-old sophomore in high school when his life changed forever. He had a passion for skateboarding and dreams of joining the military or attending the police academy after graduation. 

“All of a sudden, it was like I got hit by a truck,” Cooper said.

Onset of Seizures

On October 13, 2021, Cooper had his first convulsive tonic-clonic seizure—a seizure categorized by a loss of consciousness and violent muscle contractions. He was working on an assignment at school and only remembers blinking before his seizure started.  

“The school called me and said that his lips were blue and he wasn’t breathing,” said his mother, Amber Snider. “They were having to resuscitate him, and I was thinking, are you sure this is my kid? Do you have the right number?”

Amber left work immediately and headed to Cooper's school, where an ambulance had arrived to take him to the hospital. After some testing, Cooper was released. 

The next day, Amber stayed home with Cooper. She was talking to him from another room in the house when he stopped responding to her. She hurried to the living room to find Cooper having another tonic-clonic seizure and resuscitated him with CPR. From that point on, Cooper began having seizures almost every day. 

“Our whole life just did a 180,” Amber said. 

Diagnosis and Treatment Options 

Cooper's care team at Cook Children’s performed many scans and tests to determine the cause of his seizures. An MRI revealed a cavernous malformation—a group of tightly packed, abnormally small blood vessels—in the left frontal lobe of his brain. Cooper then underwent a magnetoencephalogram (MEG) to map out the electrical charges in his brain and determine if they were related to the malformation. 

“Under that evaluation, his epilepsy was consistent with generalized epilepsy and found to be completely independent of his malformation,” said Cooper's neurologist, Cynthia Keator, M.D.

Over the next several months, Cooper was prescribed roughly six different types of medication, none of which stopped him from having disabling breakthrough seizures. Each seizure slowed him down and affected his motor skills and memory. During one of his seizures, Cooper fell and dislocated his shoulder. He has done so roughly 20 more times since.

When it became clear that his medications were ineffective, Cooper's doctors started to consider palliative surgery options. 

“Palliative means we know can’t fix this 100%, but we can likely significantly improve the overall quality of life and cognitive function of the patient,” Dr. Keator said. 

Autism and Epilepsy

Cooper is on the autism spectrum, which has been known to have a strong association with seizures. 

“We know children with autism are more likely than the general population to develop seizures or epilepsy,” said Dr. Keator. The reason, she says, is yet to be fully understood.

 “We know of many genes that are associated with epilepsy and autism, but there are probably thousands of others that we have yet to discover,” she said. “We just don't know the underlying gene or combination of genes that answer why some children with autism develop epilepsy.”

Responsive Neurostimulation Device

According to Dr. Keator, the two main treatments to consider for generalized epilepsy that don’t respond to medication are deep brain stimulation and responsive neurostimulation. Both methods involve the implantation of a device into the brain that sends a signal or impulse to disrupt the electrical activity that causes a seizure. 

After a very thorough evaluation, Cooper was deemed a great candidate for the implantation of the responsive neurostimulation (RNS) device. 

“The RNS allows us to put electrodes down into areas of the brain that are responsible for either generating seizures or mediating the network through which seizure signals are sent,” said Cooper's neurosurgeon, Daniel Hansen, M.D.

The implanted electrodes can detect abnormal electrical activity in the brain within microseconds, often before a seizure even begins. 

“When the device detects that activity, it's able to send a small electrical impulse through the electrodes to disrupt that abnormal electricity,” Dr. Hansen said. “Ideally it never becomes a full-blown seizure, or at least a full-blown clinical seizure where we would see outward manifestations of it.”

The Surgery

On October 27th, 2022, Cooper had his RNS device implanted. 

According to Dr. Hansen, the entire surgery only takes up to two hours. Most patients don’t experience much pain afterward and are even able to go home the very next day. Cooper's surgery went off without a hitch. Once the device was in place, his care team was able to start tracking his seizure activity immediately. 

“We actually train the device to recognize his specific type of electrical pattern so the treatment is really tailored to him,” Dr. Hansen said. 

Typically, by the time a patient comes back for their first follow-up after surgery, there is enough data to train the device on how to disrupt their unique seizure activity.

Significant Improvement

After his surgery, the time between Cooper's seizures gradually began to increase. His first seizure-free period was 15 days, followed by one month, then two months. Cooper still takes some medications, but thanks to the RNS device, he will hopefully be able to wean off of them eventually.

“The seizures have really died down,” Amber said. “He can tell when he's going to have one because it'll send an electric shock, and every once in a while he can feel it.” 

The RNS device also decreases the time it takes for Cooper to return to a normal state of functioning after a seizure. 

“It took him hours to get back to some kind of normalcy before,” said his father, James Snider. “The first time he had a seizure with the device, he was already almost back to Cooper within 10 minutes.”

Finding Strength in Faith

Cooper's family attributes his improvement largely to their faith in God and the power of prayer. 

A few weeks before Cooper’s RNS device was turned on, a kind stranger asked to pray over James. Without knowing anything about Cooper, the stranger somehow knew that James had a son who was suffering from seizures and shoulder troubles. He reassured James that something was about to drastically improve Cooper’s life. This encounter strengthened James’s faith in the RNS device and his hope for healing.   

“If God’s given a blessing, I want his blessing to be known,” James said. “There might be a family down the road that's going through the same thing and needs to hear our story.”

Continued Improvement With RNS 

“All of the literature on the device tells us that the initial seizure response within the first couple of years is very often improved upon over the subsequent years,” Dr. Hansen said. “For reasons that are not entirely understood, the seizure network and modulation component really seem to continue to improve over very long periods of time.”

Studies in adults have shown continuous improvement in seizure control rates even ten years out from surgery. These findings are extremely promising for Cooper, whose symptoms should only continue to lessen given his great response to the device so far. 

“The RNS is wonderful for children who previously had no other options for seizure control,” Dr. Hansen said. “This has been a really big, life-changing advancement.” 

Looking Forward

Cooper is now a senior in high school. While he was unable to attend school before his surgery, he is now able to go twice a week.  

Video games, writing, and drawing bring Cooper joy. He enjoys talking to his friends online and sketching video game characters, anime, and superheroes. 

Though Cooper’s dreams have changed since he was diagnosed with epilepsy, he still has high hopes for his future. He wants to attend Sam Houston State University and earn a degree in Criminal Justice so he can become a forensic psychologist. 

Though he’s feeling more like himself these days, Cooper knows the road ahead of him will not be easy. His seizures have lessened, but his battle with epilepsy is not over. 

“There will be some hard days, but as soon as I get through it, it’s going to feel like a huge achievement,” he said. “I don't want people to recognize me for my seizures. I want people to recognize me for my perseverance.”

In 2013, Ann Marie Woodruff was involved in a severe traffic accident that crushed her skull. Eight years later, her ongoing path of recovery took a new twist when she had a seizure and was diagnosed with epilepsy.

November is Epilepsy Awareness Month, a time to highlight the disorder that happens when the brain’s electrical activity misfires – a seizure. People with a traumatic brain injury (TBI) are at higher risk for developing epilepsy weeks or sometimes years after their brain injury, as in Ann Marie’s case. 

Ann Marie was 7 years old when she was involved in the wreck. The trauma to her brain caused serious complications:

• Removal of forehead bone, to give space for her injured brain to swell
• Reconstruction of her forehead with a titanium plate  
• Physical, speech and occupational therapy during three months of hospitalization
• Problems with reading comprehension, headaches and noise sensitivity
• Then at age 16 … the epilepsy diagnosis

Despite all those challenges, the Euless 18-year-old is now a high school graduate and a licensed driver. She’s following her dream by working at a kennel and attending dog grooming school. The anti-seizure medication she takes causes some sleepiness but has kept her epilepsy under control.  

"Epilepsy stumped us for a few months, but she is such a determined girl that she was not going to let epilepsy keep her down or define who she is or wants to be," said her mother, Carla Woodruff.

According to the Epilepsy Foundation, seizures can result from a change in the chemical environment around the brain cells after bruising/bleeding in the brain, or a skull fracture. Early treatment with medication reduces the chance of additional seizures.

Ann Marie fits the higher-risk category for developing epilepsy because she lost some tissue in the frontal lobe of her brain, said Cook Children’s neurology nurse practitioner Erin Davis, APRN, CPNP. Ann Marie sees Davis every six months to manage her epilepsy. When she meets with families in neurology, Davis uses the analogy of file cabinets to explain how the brain stores memories and other functions. 

“It’s all organized,” she said. “And when you have a traumatic brain injury, they all get knocked over. You have to spend time lifting each one back up and then putting the files back in.”  

Ann Marie has come a long way in putting those file cabinets upright thanks to perseverance, a sense of humor, and the skill of her providers at Cook Children’s. “I have spent the last 10 years doing so many things to improve myself and not just be the girl with a brain injury,” she said. “It hasn’t been easy. But I know I’m worth it.”

This is her story.

The Injury

In the second grade, Ann Marie lived in the West Texas town of Anson. She took karate class in Abilene, about 25 miles away. Her dad, Bill Woodruff, picked her up from karate on Jan. 29, 2013, and began driving home. Ann Marie sat in the back buckled into a high-back booster seat. It was dark and dusty, which reduced visibility on the highway.

Bill Woodruff didn’t see the stopped 18-wheeler that was blocking both lanes. Their crew cab truck slammed into the semi’s trailer and went under it. The impact killed Ann Marie’s dad. She took a blow above her right eye, and her skull was shattered.

Paramedics rushed Ann Marie to a hospital in Abilene. She had multiple injuries – including a liver laceration and broken leg -- but the most urgent priority was to relieve pressure from the swelling of her brain. Doctors in Abilene performed a craniectomy, removing most of her forehead bone from ear to ear. Later that night a helicopter transported Ann Marie to Cook Children’s Medical Center in Fort Worth.     

Admitted to the pediatric intensive care unit, she remained in a coma for several weeks. Therapy began once she woke up.

“She had to relearn everything … how to walk, how to talk, who she was,” Carla Woodruff said.

Ann Marie’s brain shifted as the swelling and fluid began to subside. Measurements were made via CT scan, and a manufacturer in Germany created a metal device to fit the exact size and shape of her missing bone.

In the meantime, Ann Marie wore a hardshell helmet to protect her head in case she fell or something bumped into her. The next step: Placing a titanium plate across the gap in her forehead.  

Reconstructive Surgery and Therapy

Seven weeks after the accident, Ann Marie went back into surgery for a cranioplasty, to replace the missing part of her skull. Cook Children’s neurosurgeon Richard Roberts, M.D. followed the incision made when the bone was taken out. Peeling back the skin was a slow process because her scalp was so thin.

Dr. Roberts installed a plate custom-made for Ann Marie and built from titanium, which resists infection. The plate contains hundreds of tiny holes.

“What winds up happening is tissue from underneath and tissue from the scalp can grow together through the holes and help anchor the plate,” he said.  

He described Ann Marie’s recovery as amazing given the extent of her injury.

“If you look at the original CT scan you would think it would be difficult to survive,” Dr. Roberts said. “The hard work and dedication of Ann Marie and her mom and the whole hospital laid the foundation for success.”

That hard work included speech, physical and occupational therapy during her stay at Cook Children’s. As a nurse practitioner, Davis coordinated various aspects of her care. Exercises were designed to feel like play. Those sessions aimed to repair Ann Marie’s attention span, impulse control and other thought processes. For patients with TBIs, intensive rehabilitation soon after injury can help the brain to rewire, Davis pointed out.  

Speech therapy six days a week helped Ann Marie to regain language, focus, and skills such as problem-solving. Speech pathologist Renee Lavelle, MS, CC, SLP in the Neuro Rehab Unit helped Ann Marie learn to eat, starting with liquids and moving to solid foods. “She was easy to work with. She would try anything,” Lavelle said.

Ann Marie remembers little about being hospitalized. But she does recall feeling feisty enough to warn the nurses that she knew karate.

When she was discharged three months after arriving at Cook Children’s, Ann Marie could walk with assistance, feed and dress herself, and respond to simple questions. She continued speech therapy on an outpatient basis and returned to Cook Children’s for annual checkups.

“Over the years every time I see her, she’s better and better,” Davis said. 

Adapting and Achievements

The mental fog continued to lift after Ann Marie left the hospital. But reading comprehension remained a particular struggle. She eventually enrolled in Novus Academy in Grapevine, which serves students with learning differences. She made good grades and thrived in the alternative setting, graduating in May 2023.

It takes a little longer for the pathways of Ann Marie’s brain to process information.

“When asked a question, I usually can’t just answer. I must think about it and see if my brain has stored it somewhere,” she said. “It isn’t always there.”

But she has found new tricks for learning, especially through touch and music. She took up the piano, guitar and trombone. She also loves caring for animals. Her mom describes Ann Marie as kindhearted and hardworking. And she’s resilient when challenges arise, like the news that she needed medication for epilepsy.  

As Ann Marie puts it … Being stubborn comes in handy. Don’t let hurdles stop you from pursuing your goals, she advises. She hopes to someday work at a zoo or wildlife refuge.

“Sometimes it takes a little more grit, but you can do it,” she said. “Don’t give up on your dreams just because something is hard. It is worth everything you must put into it.”

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Cook Children's Neurosurgeon Talks Medical Phenomenon on National TV

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Join us for “Under the Lights,” an inspiring story about a teen with epilepsy, followed by a Q&A with the film's writer and director Miles Levin and executive producer Greg Grunberg. This event is hosted by Scott Perry, M.D., an epileptologist and head of Cook Children’s Jane and John Justin Institute for Mind Health. 

This event begins at 6 p.m. with light appetizers, followed by the film screening and virtual discussion. Registration is required to attend. Get your complimentary tickets here.

The Story

Under the Lights is the story of Sam, a boy with epilepsy, so desperate to feel like a normal kid, he goes to prom knowing that the lights will make him have a seizure. 

Cinema has historically stigmatized and ignored people with epilepsy. A demographic of 1 in 26 who have almost never been represented authentically on screen, and suffer from brutal stigma every day. Written and Directed by filmmaker with epilepsy, Miles Levin.

Learn more about "Under the Lights" here.

Story by Ashley Antle. Video by Tom Riehm.

There was a time when world-renowned painter John Bramblitt’s life was shrouded in darkness. At the age of 31, after years of gradual vision loss due to complications from epilepsy, Bramblitt lost the last of his eyesight. 

Bramblitt was 2 years old when he had his first seizure. From that point on, he spent his childhood in and out of hospitals. During his most severe seizures, Bramblitt’s heart would momentarily stop beating and he would stop breathing. As a teen, his epilepsy was further complicated by Lyme disease, which he likely contracted years before it was discovered and diagnosed.

To pass the time and cope with the many days and nights he spent in the hospital as a child, Bramblitt turned to art, an activity he has loved since as far back as he could remember. 

“I love to draw and I think I could draw before I could walk,” he said. “For some reason, in my own brain, art just makes sense. It was my way of figuring things out. It became really important because, even in the hospital, it's easy to have stuff to draw with. You can have crayons. You can have pencils. So it's easy to bring drawing stuff with you everywhere you go. And I drew every day. I took every class I could take on drawing and read every book that I could about it and different artists.”

Drawing was Bramblitt’s connection to the world outside of his hospital room. It was his escape from epilepsy and helped him process the daily health challenges he faced. 

Then, while a student at the University of North Texas, his world began to go dark. Damage to Bramblitt’s brain from years of seizures eventually took 40% of his hearing and all of his sight. Bramblitt spiraled into a deep depression, thinking the artist in him was also lost forever. 

“After my eyesight went, I didn't think I'd ever be able to draw again,” Bramblitt said. “Honestly, I was so angry and so depressed. I just didn’t feel like I had any future. I didn’t have any hope.” 

But the artistic abilities Bramblitt used to make sense of his difficult circumstances were still there and eventually resurfaced in his soul. 

The Darkness Fades 

“It took me about a year to learn how to travel independently to leave my little college apartment and travel a short distance to the university,” Bramblitt explained. “Then it occurred to me if I can cross these streets, surely I should be able to use these same techniques to cross a canvas. So I got some materials and I just started to draw.”

Instead of a pencil, Bramblitt picked up a paintbrush. He never considered himself a painter or even felt like he’d be good at it, but he knew the texture of paint would allow him to feel his work, something he couldn’t do with pencil or charcoal. 

“I thought, well, at least I could get paint and I could touch it,” he said. “So I could touch red, and I could touch blue. I still remember what colors look like.” 

Bramblitt began painting the lines and shapes of objects that he felt, and taught himself to navigate each work of art the same way he navigates the world around him — through touch. A special additive that gives paint texture allows him to customize the feel of each paint color so that he can differentiate where his paint lines begin and end.

He says his first completed drawing after becoming visually impaired was the worst work of his life, but the most proud he’s ever been of a piece. Bramblitt had no idea how far he could go with the rediscovery of his skills, but he knew he could at least get what he was seeing in his mind’s eye and feeling in his soul on paper again. 

“For the longest, I didn't think anybody would ever want to see a painting of mine,” he said. “I mean, why would they? But it was helping me.” 

It wasn’t long before Bramblitt was painting up to 16 hours a day. The more he painted the more the darkness lifted. Art was once again a way to cope, communicate and connect with the world around him, this time with more vibrancy, color and emotion than ever before. 

“That's really why I paint with realism, instead of it just being all abstract,” Bramblitt said. “I want to feel people's faces. I want to feel objects, and I want to incorporate that into the artwork so people know that I'm actually understanding the world. It gives me a way to be able to tell stories. Over the years, though, I care a little less about what people think, but I still love telling stories and I love communicating with people. So I still paint realistically, but the colors are very abstract. Colors are a wonderful way to be able to tell emotion.” 

Patience and Perseverance Pay Off

Following the encouragement of a friend, Bramblitt began entering his paintings in art shows. Initially, he did not reveal to people viewing his art that he was blind. He wanted others to see the work for what it was and not for the fact that it was created by a visually impaired individual. 

Today, Bramblitt’s art has been sold in more than 120 countries. His masterpieces and story have been featured in national and international news outlets, numerous magazine covers and even major feature films. 

But it took time, he says, and he encourages others facing similar challenges to be patient with themselves and their progress. 

“We always want everything right now, but give yourself time to work through things and don’t be afraid to fail every once in a while,” he said. “It's OK for things to not work out. If things aren't going wrong every once in a while when you're doing something, then you're probably not trying enough new things. Be easy on yourself and give yourself time.”

A Magical Mural

Bramblitt’s latest work is a 6-foot-tall by 15-foot-long mural depicting Fort Worth’s rich culture and vibrant identity. It will hang at the entrance to the new Jane and John Justin Institute for Mind Health. The piece was commissioned by Scott Perry, M.D., head of Neurosciences at the Justin Institute and self-proclaimed art enthusiast. Dr. Perry was first introduced to Bramblitt and his work at an Epilepsy Foundation Texas fundraiser. 

“As an epileptologist and art lover, I instantly connected with John, his story and his work, and initially asked him to do a project with the kids in Cook Children’s Epilepsy Monitoring Unit during Epilepsy Awareness Month,” Dr. Perry said. “When we began thinking about artwork for the Justin Institute, I wanted to feature pieces that would be more than just pictures on a wall. I wanted the artwork to be an experience for visitors, and for children and families to see hope for their own stories in these pieces, and I knew John was the perfect artist for this. Not only is his work beautiful and powerful all on its own, but his story will be an inspiration to every child that hears it and sees this painting.”

The star of the mural is a little girl surrounded by iconic Fort Worth scenes, including a calf and a singing cowboy. The bright, bold colors in one scene are balanced with the depiction of a nighttime scene that Bramblitt says includes “all kinds of wonderful, nice things.”

“For a child in the hospital, the hard times often are at night and on weekends, especially if you're in the hospital for weeks or months,” he said. “You'll have a lot of visitors sometimes during the week, but it seems like the weekends just drag on. So I wanted to have a little bit of the darkness there, but also have it pleasant and happy as a reminder that there are positive, wonderful times.”

Bramblitt’s painting is one of a number of neuro art installments at Cook Children’s. Every work within the neuro art collection was created by artists who have a connection to the neurosciences through their own personal experiences or careers.

Bramblitt hopes his mural connects with the feelings kids face when up against a health challenge, while also evoking confidence, optimism, a sense of calming reassurance and, above all else, happiness for those who pass by.

“I honestly thought my life was over whenever I lost my eyesight,” he said. “I'm still epileptic and I'm still blind, but I'm happier than I've ever been. I get to do things like this mural, and I get to travel, and I get to meet and talk to people and hear their stories. I'm just really happy.”

To many parents and their children, M. Scott Perry, M.D., head of Neurosciences at the Jane and John Justin Institute for Mind Health at Cook Children’s, is best known as an epileptologist. One who isn’t afraid to take on rare and difficult childhood epilepsies. An active clinical researcher, always searching for therapies to treat and cure epilepsy. A relentless advocate for his patients.

But his more than 8,000 Twitter followers know him as @TheNotoriousEEG, and follow him for his take on everything from epilepsy research to food, music and art. Despite his healthy following, Dr. Perry was initially reluctant to join the Twitterverse.

“At some point, people within the hospital asked me if I would consider joining social media, and my immediate answer was, ‘No, thank you,’ because I have a lot of stuff to do, and I don't need to add another activity to my life,” Dr. Perry said. “But they seemed to think I would be good at it. So I decided if I could come up with a handle that was clever enough, then I will do it.”

Dr. Perry elicited naming ideas through a contest with his colleagues in the neuroscience department but none of the suggestions felt right. Then, it came to him: @TheNotoriousEEG, a play on his love for 90’s rap music and his favorite artist, The Notorious B.I.G., coupled with a nod to his work with the acronym of a common neurologic test called an electroencephalogram (EEG).

Dr. Perry’s Twitter feed is as diverse as his interests. Yes, you’ll find a lot of posts about epilepsy awareness and medical research, but you’ll also see pictures of the nightly meals he cooks for his family, his weekend cheer dad persona as he follows his youngest daughter to cheer competitions and his support of Texas Christian University where his oldest daughter is studying to be a nurse. Scroll a little more and you’ll pick up on his love for art, something he gets from his antique-loving mother with an eye for beautiful things.

His initial reluctancy to tweet has given way to cautious appreciation, and he’s proven himself a natural at harnessing the power of social media for good.

“Despite all of Twitter's problems, I think that it's a good platform for scientists, frankly, to share information very quickly,” he said. “It's a great way to connect with patients and other advocates quickly and to bring them information that maybe they don't have available to them or to gain knowledge from others that you didn’t have access to. It's a way to share expertise widely with people that might not have access to some of those things all the time. Beyond that, it's a good way to show people that doctors have lives and personalities and, to some degree, we are regular people, too.”

The Doctor from the Delta

Dr.  Perry’s road to becoming a world-class pediatric epileptologist began in the Mississippi Delta where he was born and raised in the small town of Cleveland, Mississippi — home to the Delta State Fighting Okra! His father owned and operated a used car company and his extended family operated lots throughout Mississippi. The family business is still in operation today with his two older siblings at the helm.

As a kid, Dr. Perry had his sights set on an occupation that would take him far beyond Mississippi into parts unknown. He wanted to conquer space exploration as an astronaut. But, during a stint at Space Camp, Dr. Perry was told his vision was not perfect and he would never be able to command a space shuttle. 

“If you know my personality, my goal is to be the commander,” Dr. Perry said. “So I had to step out of the astronaut business and try to look at something else. Being a doctor sounded challenging.”

During his junior and senior year of high school, Dr. Perry attended the Mississippi School for Mathematics and Science, followed by Emory University in Georgia for his undergraduate degree in physics. That’s also where he met his wife of 22 years, Becky.

Dr. Perry went back to his home state to earn his medical degree at the University of Mississippi School of Medicine. It was there that a neuroanatomy class stoked his desire to specialize in neurology. He said that, for him, the subject matter “just clicked.”

Following medical school, Dr. Perry returned to Emory University for his pediatrics and child neurology residencies. In 2008, he joined Nicklaus Children’s Hospital in Miami, Florida, to pursue a neurophysiology fellowship. 

Westbound to Cowtown

When his training was complete, Dr. Perry longed for a place to practice medicine free from the bureaucracy that came with medical facilities attached to teaching institutions. It just so happened that he came across an advertisement for Cook Children’s. He had never heard of the place but was impressed that the medical center had an epilepsy monitoring unit and was performing a healthy amount of epilepsy surgeries, which is where his interest lay.

“It just sounded like a decent opportunity, so I decided I'd come and give it a shot and see who these people were,” Dr. Perry said. “I came and interviewed here and I really loved the concept of what they were doing, and how these were essentially private practice neurologists. They were doing things that you would typically only see being done in an academic medical institution, but they were doing it here in a private children's hospital. This kind of pioneering spirit they had was really impressive to me.”

Thirteen years later, Dr. Perry has blazed a trail at Cook Children's as an expert in rare genetic epilepsies and epilepsy surgery.

“I find both of those things incredibly rewarding because I love to tackle very difficult cases and break them down, hopefully, to determine either where the seizures are coming from or why the seizures are occurring,” he said.

He’s admittedly the type of person that does not deal well with incremental change. It's either go big or go home. That’s why Dr. Perry loves epilepsy surgery. When a patient comes out of an operation seizure-free or with significantly reduced seizure activity for the first time in their lives, it’s an immediate payoff.

When an operation can’t cure a condition, like in the case of many genetic epilepsies, it is his patients and their families that keep him going. The tenacity of the families that deal with these conditions, and the relentless drive to help their children through advocacy, forming their own non-profits, and funding the research necessary to find cures, is all the inspiration he requires to do his job daily. Dr. Perry says that, thanks in large part to their efforts, we see the advent of new therapies and the potential of disease-modifying treatments to correct the underlying genetic cause of these rare conditions.

Collaborating for Mind Health

In addition to his patient load, Dr. Perry is overseeing the transformation of Cook Children’s divisions of neurosciences with the development of a unique and comprehensive care model for children with diseases of the nervous system. It’s known as The Jane and John Justin Institute for Mind Health at Cook Children’s. Nine specialties that commonly overlap in the treatment of nervous system disorders, and have traditionally been siloed in separate locations, are coming together under one roof to make care easier and more efficient for patients and families. The Justin Institute will also open the door of collaboration between physicians and other providers when it comes to shared patients.

“I'm excited about the potential convenience for families to be able to get everything done in one fail swoop. To park your car once, and to miss one day of work, and to get out of school one day and get everything you need,” Dr. Perry said. “Then on the backside, knowing that your doctors are all down the hallway from each other and can be face-to-face about your care and make sure everybody's on the same page.”

Dr. Perry has personally curated much of the neuro-focused art that will hang in the hallways of the Justin Institute, housed in the newly expanded Dodson Specialty Clinics building at Cook Children’s Medical Center. The pieces range from paintings of Fort Worth’s skyline to images of the brain made from glass. All of the art installations were created by artists with a connection to the neurosciences in an effort to make the topic of brain science more approachable.

“I'm very excited about the building because I have spent a lot of time obsessing about how it’s going to look and how it's going to work,” he said. “It'll be our version of Disney for neuroscience. A place you look forward to coming to for the care of your child.”

Getting the Justin Institute up and running hasn’t been easy, but for someone who wants the best possible care experience for patients, it’s been worth it. He says bringing this many specialties together in order to attain a collaborative network encourages change across all nine divisions. It has required a lot of listening and learning on his part in order to understand how specialties outside of his, like behavioral health or developmental pediatrics, run their clinics so that they can build a care model that is good for patients and providers.

Collaboration within the Justin Institute will also expand neuroscience research opportunities into behavioral health, developmental psychology, autism and other disorders associated with the nervous system.

Even though Cook Children’s is not a traditional academic medical center affiliated with a teaching institution where research is a cornerstone of the programming, the medical center has a robust research arm. It’s one of the things that attracted Dr. Perry to the health care system.

“We're the most academic, non-academic place in the country, in my opinion,” Dr. Perry said. “I think the way we're doing it is unique and offers more opportunity for access to patients for enrollment. I like to think it's a bit healthier research environment because the Dodson Neurosciences Research Endowment is there to cover the salaries of the research employees regardless of grant funding. And then, because we're not tied to any one institution, it allows us to collaborate with numerous institutions and have multiple partners.”

Dr. Perry was instrumental in launching the Dodson Neurosciences Research Endowment at Cook Children’s, which he says is a game changer in taking the medical center, already renowned for its clinical care, to one also recognized for ground-breaking research. It’s one of his proudest accomplishments so far.

Even with all of these big medical career moments, Dr. Perry has not forgotten his Mississippi Delta roots. Look no further than his Twitter feed for proof. Shrimp and grits, po-boys and gumbo — all home-cooked by one of the nation’s leading epileptologists, aka @TheNotoriousEEG.

“I'm just a simple man from Mississippi,” Dr. Perry said. “I just happen to be pretty decent at epilepsy.”

Sunday, March 26, 2023 is Epilepsy Awareness Day to spotlight this neurological condition that affects nearly 50 million people worldwide. People are encouraged to wear purple. 

By Ashley Antle

There was a time when constant seizures plagued 4-year-old Sofia Gutierrez-Lopez’s life. They started when she was 19 months old and gradually the seizures occurred hundreds of times within 24 hours. Day and night, Sofia’s brain misfired, stealing her ability to hit developmental milestones and live a normal life.

No amount or combination of seizure medication helped, which is common with Sofia’s type of epilepsy. Sofia has a severe malformation of the left side of her brain, and that’s where her seizures originated. Her parents were desperate for something — anything — that would free their daughter from the unrelenting seizures and allow her to have as normal a childhood as possible.

In April 2022, Sofia underwent surgery at Cook Children’s. Now a year later, her seizure activity is dramatically reduced and her quality of life dramatically improved. Since surgery, Sofia had one day where she experienced three seizures, compared to hundreds every day before surgery.

M. Scott Perry, M.D., an epileptologist and head of neurosciences at the Jane and John Justin Institute for Mind Health at Cook Children’s, was one of several doctors treating Sofia. He recommended a functional hemispherectomy — a surgery that removes or disconnects half of the brain to interrupt the seizures and stop their assault on the healthy side of the brain. In Sofia’s case, it would be the left side.

Like any surgery, it had its risks, but so did living with a brain under constant attack. Sofia already had developmental delays, and every seizure increased the potential for more. Eventually, the seizures could rob her of the ability to walk, talk and eat. Children with uncontrolled seizures also are at greater risk for sudden death during a seizure.

“In this case, the risk of surgery is weighed against the risk of her continuing to have seizures,” explained Daniel Hansen, M.D., a pediatric neurosurgeon specializing in epilepsy surgery and medical director of neuro-trauma at Cook Children’s Medical Center. “The reality is epilepsy surgery is really quite safe when done by a trained epilepsy surgeon or a pediatric neurosurgeon with epilepsy experience.

“The risk of catastrophic operative complications or unexpected postoperative complications is very low,” Hansen said. “Even knowing that there will likely be permanent changes to strength and vision on the opposite side of the body that are unavoidable, the trade-off to being seizure free is, for most children, completely worth it.”

Fateful Connection on Trip

Even so, having a portion of their child’s brain disconnected was a scary thought for Sofia’s parents.

“It's crazy to think that they could actually go in her brain, take part of her brain out and that is going to help her,” said Cristina Gutierrez-Lopez, Sofia’s mother. “It sounded like fiction.”

Sofia’s parents weren’t quite ready for that step until a trip to Mexico to visit family brought a turn of events that not only confirmed the surgery was necessary, but that Cook Children’s was the right place with the right doctors to have it done. While in Mexico, Sofia suffered a seizure emergency that sent her to the emergency department of a local hospital. A physician there seconded the diagnosis of Cook Children’s neurologists and explained that surgery was the only option for any relief.

Without knowing the family’s already established ties to Cook Children’s, the physician told them about a neurologist he knew in Texas to be one of the best in epilepsy treatment. He attended a presentation made by this Texas doctor at a medical conference. That Texas physician turned out to be Dr. Perry. The same Dr. Perry that Sofia had seen as a patient before her fateful trip to Mexico.

Sofia’s parents were stunned at the connection. Her mother said it was confirmation that God had orchestrated these events to bring them to a place of certainty and peace and that surgery was the right next step for Sofia.

When they returned to Fort Worth, the family met again with Dr. Perry and discussed the hemispherectomy. He introduced them to Dr. Hansen who would perform the procedure. Gutierrez-Lopez told the medical team they were ready.

“I am clear on all the risks,” she said. “I understand that this is the only thing that can possibly help my daughter.”

“When we went home from the hospital, I took home the same Sofia I brought to the hospital, but improved,” Gutierrez-Lopez said. “She had the same communication skills and the same physical ability. Everything was the same or better, plus no seizures.”

As complicated and risky as epilepsy surgery sounds, outcomes like Sofia’s are actually common.

“Sophia's case and her outcome is nothing short of astounding,” Dr. Hansen said. “I mean, we go from a girl who had literally hundreds of seizures a day to almost seizure-free. But although that outcome is amazing and astounding, it is the expected outcome. This is not a one-off sort of thing for children with epilepsy.”

Breaking Cultural Barriers

A perception that the brain is too complex to fix and, therefore, should not be touched is a common misconception, especially among minority groups, according to both Dr. Perry and Dr. Hansen. Dr. Perry is studying the disparities that exist within epilepsy treatment and, in particular, surgery. Many of those disparities are already well documented but a lot of cases use insurance databases to illustrate the fact that more white people have epilepsy surgery than non-white people, according to Dr. Perry. The problem with this approach, he says, is that it only looks at those who underwent surgery and not at those who were offered but declined.

“We say there's a disparity, which is true, but we don't know why there's a disparity,” Dr. Perry said. “Was it because they weren't offered the opportunity because maybe their insurance is not as good? Or their social situation isn't as good, or they were offered but declined for whatever reason?”

Dr. Perry’s study, which now has a database of more than 2,000 patients, examines the cases of those referred for epilepsy surgery and any differences between the work-up of each case. For example, do people of color have fewer medical tests and therefore are not revealed to be good candidates?

“It turns out that the work-ups are not really different based on race or ethnicity,” Dr. Perry said. “However, based on the data we’ve collected so far, people of color are almost four times more likely to decline the opportunity for surgery when offered.”

The question now becomes, why?  

“Insurance as a primary factor is not the whole story,” Dr. Perry said. “I think that's one limitation, but another limitation is there are cultural barriers to getting epilepsy surgery, and if we don't understand those barriers, then getting everybody the best insurance is not going to fix the problem. There's an aversion to this treatment approach and that's something we need to explore a little further because we need to learn what their concerns are so that we can address those barriers and make sure this opportunity is available to everybody.”

Tracy Vang, director of equity and inclusion at Cook Children’s, agrees. She cited the book “The Spirit Catches You and You Fall Down” by Anne Fadiman as an example of how cultural beliefs intersect with medicine when it comes to how some perceive illness, what causes it, and how it should be treated.

That’s why Gutierrez-Lopez shares her daughter’s story. 

She wants other parents, particularly those who share her Latino heritage, to know that while these are hard decisions to make, parents should consider the possibilities for their child over their own fear or perceptions of surgery.

“Fantasy” is the word she used to describe her initial impression of epilepsy surgery. After much of her own research, putting her faith in action, and trusting the capability of Sofia’s doctors, she pushed past her disbelief and fear. 

“As a mother, you never want to expose yourself to losing your children or anything bad happening to them, but when you have special needs children, the pain of seeing them suffer teaches you to be strong enough to take risks when you know there is hope for a better quality of life for them,” Lopez-Rosas said. “We trust in God Almighty and in the wisdom he has given to the doctors and put our little ones in their hands. They would never suggest surgery if they did not know that there is a great chance of success.”

 “Surgical resection of the brain area where these functional networks are localized offers higher chances of seizure freedom than conventional methods,” said Dr. Papadelis, director of Neuroscience Research at Cook Children’s. “This novel method has the potential to improve the outcome of children with epilepsy, particularly those who were previously ineligible for neurosurgery due to the absence of abnormal activity in their electrophysiological conventional diagnostic tests.”

 One out of every 100 children in the U.S. suffers from epilepsy, a severe brain disease that causes frequent and unprovoked seizures. Anti-seizure drugs can control seizures in most cases, but they fail in 30% of children suffering from epilepsy. Children with uncontrolled seizures are at increased risk for poor long-term intellectual and psychological outcomes and poor health-related quality of life. For these children, brain surgery is the best available treatment since it offers high chances of seizure freedom.

 This study is funded by the National Institute of Neurological Disorders and Stroke and is in collaboration with the Boston Children’s Hospital, Massachusetts General Hospital and Harvard Medical School. Ludovica Corona, a Ph.D. student of Bioengineering at the University of Texas at Arlington, serves as first author in this scientific paper.

Coming Soon

The Jane and John Justin Institute for Mind Health at Cook Children’s, opening in October 2023, is bringing together nine specialties under one roof. Pediatric specialists in neurological, developmental and behavioral health are changing the way we deliver health care. Together, we’re healing minds and bodies and sharing smiles that warm the soul and connecting care for kids unlike anyone else.

 About Cook Children’s

Cook Children’s is more than a health care system: we strive to be an extension of your family, growing with your child from their first steps to adulthood. By collaborating to deliver on our Promise—to improve the well-being of every child in our care and our communities, we connect the dots for our patients. Between primary and specialty. Between home and medical home. Between short-term care and long-term health.

Based in Fort Worth, Texas, we’re 8,000+ dedicated team members strong, passionately caring for over 1.5 million patient encounters each year. Our integrated, not-for-profit organization spans two medical centers (including our new, state-of-the-art location in Prosper), two surgery centers, a physician network, home health services and a health plan. It also includes Child Study Center at Cook Children's, Cook Children's Health Services Inc., and Cook Children's Health Foundation. 

And our impact extends beyond the borders of Texas. We proudly treat children from virtually every state in the nation and 32 countries. By seeing the world through the eyes of children and their families from all backgrounds, we’re able to shape health care suited to them: connected by kindness, imagination and respect—with an extra dose of magical wonder.

Discover more at cookchildrens.org.

Her head and arms lift. Her eyes open, turned to the side. Her body goes rigid and she loses bladder control. Sometimes she moans; usually the episodes unfold silently. The next morning, Baylie doesn’t remember.

“It’s very tough to watch. It never gets easy,” said her mom, Brandi Williams. “Most of the time she just goes right back to sleep.”

Diagnosed at age 2, Baylie is among the estimated 12% of epilepsy patients who experience nighttime seizures. An electroencephalogram (EEG) monitoring study at the epilepsy monitoring unit at Cook Children’s found that her seizures occur six or seven times a night – even more than her parents initially realized.

Dave Shahani, M.D. an epileptologist at Cook Children’s, explained that nocturnal seizures cause special concern because of the risk that a child in the throes of a seizure might suffocate on fluffy bedding or soft toys.

“It’s not that they are any different from other seizures per se, but we tend to worry about them more,” he said. Seizures while sleeping are less likely to be witnessed by a parent, he pointed out. “Any number of nighttime seizures is a high number. Even one a month is a high number.”

The U.S. Centers for Disease Control and Prevention estimates that epilepsy affects 470,000 children nationwide. Irregular electrical activity in the brain characterizes this chronic disorder, which encompasses a wide variety of seizure types. Symptoms of epilepsy can look very different in different people.

Someone having a seizure might collapse, twitch or spasm, stiffen, blink rapidly, stare into space, or lose consciousness, for instance. Nighttime seizures pose the added challenge of sleep disruption. And studies have indicated a higher risk for Sudden Unexplained Death in Epilepsy (SUDEP) during sleep. SUDEP is poorly understood but suspected to involve cardiac or respiratory complications.

Damian Campbell, D.O., a pediatric neurologist at Cook Children’s in Prosper, said Baylie’s frequent and consistent sleeping seizures stand out as “the most extreme case that I’ve experienced.” But he’s encouraged about the prospect of surgically correcting her epilepsy.

Doctors think Baylie’s seizures originate from the right frontal lobe of her brain due to focal cortical dysplasia, a jumbling of the neuron cells as her brain developed before birth. In a surgical procedure scheduled for December, her medical team expects to pinpoint the abnormality’s exact location – and eventually reduce or even eliminate her seizures.

In November, as we observe Epilepsy Awareness Month, we’re highlighting Baylie’s story to illustrate the complexity of epilepsy, to share hope, and to feature the work of the neuroscience experts at Cook Children’s who treat the seizure disorders of more than 13,000 infants and children per year.

Starting to Find Answers

Baylie loves to sing and dance, can charm someone she’s just met, and in her dad’s words “she’s amazing.” So the discovery of their daughter’s epilepsy several years ago came as a surprise to Jabyrie and Brandi Williams. None of Baylie’s five older siblings has seizures. And judging just by appearance, nothing seemed obviously wrong with the toddler. But the family noticed occasional behavior they thought was unusual.

“Every once in awhile she would start staring off into space and then she would start laughing after she came out of it. We would snap our fingers and say ‘Baylie, Baylie,’ and she wouldn’t say anything,” Brandi remembered.

“We didn’t think it was anything at first,” Jabyrie said. “She would look around and laugh, and we thought it was an imaginary friend.” The Williamses referred to these strange bouts as “blanks.”

Then they picked up on other odd signs… dizziness after her blank spells, dark circles under her eyes, and complaints about feeling tired. She struggled to follow directions at home. At gymnastics, she couldn’t focus enough to complete a step-by-step routine. “Walk the beam and then do a handstand and do a cartwheel,” Brandi said. “Her mind couldn’t process doing those things in a certain order.”

After a referral from a pediatrician, Baylie underwent various tests, including an MRI, spinal tap and electroencephalogram (EEG). In 2020, they sought a second opinion at Cook Children’s, where she came under the care of both Dr. Campbell and Dr. Shahani. Further tests showed that Baylie’s “blanks” and trouble concentrating stemmed from the disorganized layering of neuron cells on one side of her brain.

She currently takes two medications that mostly control her daytime seizures. At full-day pre-kindergarten she hasn’t had a seizure during nap time. But a stressful day, Brandi said, might trigger a breakthrough seizure during waking hours. And the nighttime seizures still happen regularly.

“Focal cortical dysplasia can’t be fixed with medication. You can suppress the seizures, but you can’t fix anything. Surgery is the only thing that could fix it,” Brandi said.

Dr. Campbell characterized Baylie as a good candidate for epilepsy surgery. He cited the higher likelihood for surgical success in patients whose seizures onset lies in just one part of the brain instead of generalized in multiple locations. A lesion in Baylie’s right frontal lobe “as a result of being malformed, doesn’t respect the organization of how the brain produces electricity,” Dr. Campbell said.

Dr. Shahani concurred in the assessment of good surgical potential. The four medications Baylie tried didn’t stop her nighttime seizures. “Without any change in her treatment plan, she will continue to have seizures for the rest of her life,” he said.

Next Step, Surgery

A stereo EEG is scheduled for Dec. 13 to precisely locate the source of her brain’s erratic electrical waves. Daniel Hansen, M.D. a neurosurgeon at Cook Children’s Jane and John Justin Neurosciences Center, will make small incisions in Baylie’s scalp and skull to place electrodes that record brain activity. Those findings could pave the way next spring for either a resection (removal of a small amount of brain tissue), or thermal ablation (a probe that uses heat to destroy the area causing the seizures). Cook Children’s performs more than 30-40 epilepsy surgeries annually.

The odds are stacked in Baylie’s favor. Dr. Shahani explained that the target area doesn’t involve critical parts of her brain that control language or motor skills. ‘She presents as a very good candidate for potential seizure freedom,” he said.

For epilepsy patients whose seizures resist medication, alternatives may include dietary therapy or implanted devices such as vagus nerve stimulators. “Early recognition and early treatment always lead to better outcomes,” Dr. Shahani said. And from Dr. Campbell: “Earlier detection is better because uncontrolled seizures can affect patients cognitively over time.”

They encouraged parents to call a neurologist or epileptologist if they suspect their child might be having seizures. Videos can be a valuable diagnostic tool by capturing a recording of the twitches, spasms, “blanks” or other concerns. Seizures often go undiagnosed or misdiagnosed because they occur so uniquely in each person, Dr. Shahani said.

“It makes it challenging and extremely rewarding to help identify what is a seizure. Parents are our greatest asset because they know their child the best.”

Back in Rowlett, the Williams family keeps Baylie on an evening routine – dinner, medicine, bath, in bed by 8:30pm. She sleeps in her own bedroom, protected from falls by a guard around the edge of her mattress. A camera keeps watch.

“In the beginning she was sleeping with us because we were nervous,’ her mom said. “But we had to come to the agreement that we have to let her be a kid.”

Brandi and Jabyrie expressed optimism that this treatment path will put an end to Baylie’s nighttime seizures and allow her to come off the meds. They urged other parents to know that the signs of epilepsy can be silent and easy to miss. Their advice? Ask questions, pay attention to seizure triggers, and advocate for your child.

“We want answers, and that’s what Cook Children’s gave us,” Brandi said. “If we never would have switched to Cook Children’s we just would have been chasing seizures for the rest of her life. We want her to be as independent and normal as possible. Being on medication for the rest of her life just wasn’t what we wanted for her, if we could help it.”

Left uncontrolled over time, seizures can cause buildup of brain scarring, Dr. Campbell said. Nighttime occurrence interferes with the restorative sleep that children need. He applauded the Williamses for their willingness to follow the recommendation for surgery to stop Baylie’s seizures.

“I hope that this article helps other families with the expected fear with hearing someone say ‘Maybe we should consider surgery,’” Dr. Campbell said. “It is a scary conversation. But I think over time we’ve become optimistic that her story will make it less anxiety-producing for families.”

“Epilepsy will affect one in 26 people during their lifetime, and 50,000 kids in Texas each year,” said Dr. Perry. “It’s my personal mission to do everything I can throughout the year, but especially during the 30 days of November, to bring awareness to this common disorder.”

Currently, 3.4 million people live with active epilepsy in the U.S. 

If you’re out and about in Fort Worth this evening, you may notice some recognizable landmarks glowing purple. While it’s not uncommon to see the city awash in this color in support of TCU’s Horned Frogs, there’s a different reason for the lights shining tonight. November is National Epilepsy Awareness Month and purple is the official color of the cause. In addition to Cook Children’s Medical Center, Fort Worth’s 7^th St. Bridge, Will Rogers Tower, Dickies Arena, TCU Stadium and the new City Hall (previously the Pier I Imports Building) will all glow purple.

“Epilepsy will affect one in 26 people during their lifetime, and 50,000 kids in Texas each year,” said M. Scott Perry, M.D., head of Neurosciences at Cook Children’s. “It’s my personal mission to do everything I can throughout the year, but especially during the 30 days of November, to bring awareness to this common disorder.”

Besides spearheading the effort to light Fort Worth purple, Dr. Perry can be seen sporting his purple Vans tennis shoes this month. He’ll also toss the coin at Paschal High School’s football game on Nov. 4, which will be dedicated to raising awareness of the disorder.

Currently, 3.4 million people live with active epilepsy in the U.S. If you’re interested in learning more about epilepsy, check out some of these stories we’ve covered on Checkup Newsroom:

• Cook Children’s Opens Clinical Trial For Investigational Treatment of Rare Epilepsy Disorder
• Teen Becomes First in North Texas to Undergo Landmark Brain Surgery for Epilepsy
• Landmark Brain Surgery Research at Cook Children’s Published in Annals of Neurology
• A Simple Seizure Plan Can Save a Life
• Teen Seizure Free For The First Time in 16 Years Following Brain Surgery
• Cook Children’s Patient Becomes First in North Texas Implanted With Smart Device to Control Seizures

“This very severe type of epilepsy currently has no approved treatment,” said M. Scott Perry, M.D., study investigator and medical director of the Genetic Epilepsy Clinic at Cook Children’s Jane and John Justin Neurosciences Center. “This targeted drug treatment is designed to directly target the cause of their SCN8A-related seizures.”

SCN8A-DEE is a very rare genetic disorder that causes seizures and developmental impairment in children. Seizures often begin in the first 18 months of life (average 4 months) with a variety of seizure types including infantile spasms, generalized tonic-clonic, myoclonic, focal-onset and absence seizures amongst others. Common manifestations of the disease may also include other movement disorders, mild to severe intellectual disability and autistic symptoms.

The link between the SCN8A gene and epilepsy was first discovered in 2016 by a geneticist searching for the cause of his daughter’s seizure disorder. SCN8A is a gene that encodes sodium channels found throughout the nervous system and is highly expressed in the brain. Sodium channels are, in part, responsible for generating the electricity of the brain. In children with an SCN8A mutation, sodium channels can open too easily or stay open too long, which increases the production of electricity and leads to seizures. Click here to learn more about SCN8A-related epilepsy.

 “Other anti-seizure medications are often prescribed for this disorder but they have to be given in high doses to be effective, and that can lead to increased side effects,” Dr. Perry said. “The drug we’re studying selectively binds to a specific sodium channel and therefore may reduce the side effects these children often experience with other non-targeted seizure medications.”

The trial, slated to begin in the third quarter of 2021, is now accepting volunteer participants at Cook Children’s Genetic Epilepsy Clinic. Participants must be between 12 and 21 years old (inclusive) and have a confirmed SCN8A-DEE diagnosis.

Other eligibility requirements include:

• Average at least one countable motor seizure per week. Must not be seizure-free for more than 20 consecutive days.

• Currently treated with at least one other anti-seizure medication (ASM), but no more than four.

• Unable to achieve seizure freedom with at least two ASMs currently or in the past.

• Must use a nocturnal alerting system or practice consistent with standards of care at the time of screening. The alerting system/practice must be used for the duration of the study.

• Must have an adequate rescue medication regimen in place at the time of screening and use it for the duration of the study. The investigator will determine the adequacy of the rescue medication regimen.

• The participant’s parent/caregiver must be able to accurately identify seizure types, especially countable motor seizures such as grand mal, tonic, atonic or focal onset, and be able to complete a seizure diary.

Individuals who have participated in an interventional clinical trial less than 30 days prior to screening are not eligible. Other excluding criteria includes:

• Have symptoms more consistent with another epilepsy disorder.

• Currently receiving cannabinoids or medical marijuana, except Epidiolex/ Epidyolex, unless approved by the investigator.

• Currently taking systemic steroids, unless it is an inhaled medication for asthma treatment. A participant must be off of these medications for at least three months prior to screening. They may not be taken during the duration of the study, unless they are intermittent steroids to treat non-epilepsy related diseases such as allergies or dermatological conditions.

• Have a history of moderate or severe head trauma or other neurological disorders or diseases that are, in the investigator's opinion, likely to affect function of the nervous system.

• Have a clinically significant medical condition or chronic disease that, in the opinion of the investigator, would prevent the subject from participating in and completing the study, or that could complicate interpretation of study outcomes.

• Have clinically significant abnormal vital signs at the screening visit.

• Have one or more clinical laboratory test results at the screening visit that may put the participant’s safety at risk.

• Have an abnormal electrocardiogram (ECG) at the screening visit or the presence of any significant cardiac abnormality.

For more information about the trial, or to determine your child’s eligibility for enrollment, contact Cook Children’s trial investigators at 682-885-2844.

Luke Waggoner’s epileptic seizures were getting worse, striking multiple times a day sometimes in back-to-back clusters that sent him to the hospital.

The seizures caused the 13-year-old Arlington boy to jerk or jump uncontrollably. He might fall backward so forcefully that he’d bruise. Other seizures left Luke mute, confused and unresponsive.

Luke has Lennox-Gastaut syndrome, a rare type of difficult-to-control epilepsy. His seizures are medically refractory, having failed many medications and other non-pharmacological treatments. Even with five different medications taken multiple times daily, Luke was still having breakthrough seizures, the erratic misfires between neurons in his brain. These seizures often resulted in trips to the emergency room and frequent admissions to the hospital. The medications and frequent seizures also make it hard for him to think and speak clearly.

In the midst of the setbacks came a new treatment option: deep brain stimulation (DBS), a surgical therapy that utilizes electrodes, wires and a generator to modulate the brain’s abnormal electrical impulses. The movement disorders team at Cook Children’s has been utilizing DBS for dystonia since 2007 in children as young as 7 years of age. DBS was recently approved by the U.S. Food and Drug Administration (FDA) for adult patients with Lennox-Gastaut syndrome.

Luke was facing the prospect of undergoing a corpus callosotomy for his epilepsy. This irreversible neurosurgical procedure permanently severs most of the connections between the two halves of the brain to prevent drop seizures, the most dangerous and disabling seizures often seen in Lennox-Gastaut syndrome. Based on extensive experience with pediatric DBS, the movement disorders and epilepsy teams collaborated with Luke’s family about the potential to offer DBS to Luke as an alternative to callosotomy. If the DBS did not work, callosotomy remained an option.

After much discussion and planning, the decision was made to implant temporary electrodes in two sites on each side of Luke’s brain to assess the impact on his seizures and potential unwanted effects. In April 2021, Luke had the temporary leads implanted. After several days of continuous monitoring on the specialized epilepsy unit trying different stimulation settings, the sites for permanent leads were chosen in consultation with Luke and his family. A detailed proposal including the data from the trial was used to get insurance approval for the placement of DBS.

Then in a two-part landmark surgery at Cook Children’s – on July 8, when electrodes were implanted in his thalamus; and on July 14, when wires were placed through his neck to the generator in his abdomen – Luke became the first pediatric patient in North Texas to undergo DBS for intractable epilepsy since the FDA approved the treatment. He also became the first child in the United States to receive the newly approved sensing lead technology DBS system for epilepsy.

“Deciding to do the DBS and for Luke to be the first pediatric patient at Cook Children’s for epilepsy was a very difficult decision, and we did not take it lightly,” said his mom, Ami Waggoner. “We just knew we had to do something to try to help him.”

Cynthia Keator, M.D., medical director of the Epilepsy Monitoring Unit at Cook Children’s, expressed optimism about the potential to mitigate Luke’s seizures for years ahead. Other desired outcomes from the ongoing brain stimulation? Better cognitive function, fewer meds, greater independence and a more normal lifestyle.

“Our hope is that not only will this immediately start to show improvement in his seizures, but give him a chance to have a better quality of life, to be able to go back to school in person, to be able to go outside and not worry about falling down or having a seizure, and to be able to taper off of some of his medications,” Dr. Keator said.

Since 2007, the Jane and John Justin Neurosciences Center at Cook Children’s has established a record of excellence in deep brain stimulation, providing the surgical therapy to almost 150 patients with a movement disorder called dystonia, currently FDA-approved for pediatrics. Luke is a pioneer in DBS because of his underlying condition … epilepsy rather than dystonia.

Ami and Tim Waggoner said their son already has made big strides since his two DBS surgeries in July. His seizure count is down from the pre-surgery norm of five to 10 per day, she said, and the seizures that still occur aren’t the dangerous variety that requires additional “rescue” medications. Luke is able to read, play with Legos and his beloved trains, and go for short trips in the car. He started weaning off one of the drugs he takes. They are amazed at the change.

“You can just look in his eyes and see he’s more with it,’’ Ami said. “This is all really, really exciting. He knows he’s feeling better.” And from Tim: “I’m seeing more energy, fewer seizures, clearer speech and he is able to do more! It is just amazing the difference in just over a month since turning on the generator.” 

Let’s take a closer look at epilepsy facts, the precision involved in deep brain stimulation, and the route Luke took to becoming the first patient to undergo this new treatment for childhood epilepsy.

Epilepsy explained

The U.S. Centers for Disease Control and Prevention estimates that 3.4 million people nationwide have epilepsy, including 470,000 children. There is no cure and often no identifiable cause. Epilepsy is a chronic disorder that results from sudden intense bursts of electrical activity in the brain, manifesting a range of seizure types.

Someone who’s having a seizure might collapse, twitch or spasm, stiffen, blink rapidly, stare blankly, or lose consciousness depending on the type. Medication successfully controls the seizures in up to 80% of children with epilepsy.

Luke was diagnosed at age 5 with generalized epilepsy, which affects both hemispheres of his brain. Big sister Lexi didn’t know what was happening when she witnessed the first seizure.

“He couldn't hear me. And he started walking in a circle and then he just fell over and turned blue. Seeing that freaked me out,” Lexi remembered. “The first few years were really hard for me to understand and get used to it. But now it's to the point where it's just a part of our everyday lives.”

Medications helped at first, his mom said, but the seizures started getting more dangerous and debilitating about three years ago. Ami, who is a nurse, could administer the rescue medications at home when the seizures got especially bad. But even then, about twice a month Luke required hospitalization and intravenous therapies to stop the back-to-back clusters.

Dr. Keator said electroencephalography on Luke found the two distinct patterns of brain waves indicative of Lennox-Gastaut syndrome, (slow spike-and-wave complex and generalized paroxysmal fast activity). A vagus nerve stimulator, which uses a pacemaker-like device implanted in his chest, worked for a while for Luke, but the seizures and hospital stays kept recurring.

Game-changer potential

Warren Marks, M.D., director of the Movement Disorders Program at Cook Children’s, visited Luke’s hospital room in February 2021. Dr. Marks mentioned the prospect of deep brain stimulation, which had been approved by the FDA since 2018 for adults with epilepsy. Cook Children’s anticipated that the FDA’s green light for DBS in epileptic children was on the horizon, and Luke seemed like an ideal candidate.

“Dr. Marks just really believed he could help Luke. He gave us a spark of hope,” Ami recounted. “We were on board from the beginning because of the trust I have in the physicians and Luke’s neurology team. They're just amazing. They have never, ever given up.”

Dr. Marks explained that DBS sends small electrical impulses to targeted areas of the brain to alter the abnormal movements seen in dystonia as well as tremors and Parkinson’s disease. Results were encouraging in the almost 150 dystonia patients who underwent DBS in the past 14 years at Cook Children’s. Dr. Marks thought the therapy held promise for epilepsy patients too.

Collaboration between the Cook Children’s movement disorders and epilepsy teams had already been underway to adapt technology and share expertise, Dr. Marks said. The next step was a weeklong trial in April to gather data on Luke’s tolerance for different electrical amplitudes. And the doctors needed to know exactly where to implant the DBS devices.

“We recorded and stimulated different places in the brain to decide which seemed to be beneficial, but also which didn’t cause him unwanted side effects,” Dr. Marks said. “When you stimulate the brain in these areas, sometimes you get thing that you don’t want. We were trying to find one target that would give us the best chance of success.”

Not only did the April testing phase produce essential data, but during that practice run Luke spoke more clearly and felt better than he had in years, his mom said. So DBS was scheduled for July. John Honeycutt, M.D., medical director of Neurosurgery at Cook Children’s, is the surgeon who implanted several electrodes bilaterally in the centromedian nucleus of Luke’s thalamus, the relay center for transmitting signals in the brain.

The DBS system consists of three main components:

• Leads (pronounced “leeds”) – tiny electrodes embedded deep in the brain to deliver the electricity directly to the target area. They’re held in place by caps screwed into the skull.
• Generator – a mini-computer under the skin of the chest (the abdomen, in Luke’s case). Wires run through the neck to connect leads to a generator. In some cases, the battery is rechargeable.
• Programmer – a tablet that talks to the generator, regulating the strength and frequency of electrical impulses per second. Settings can be adjusted based on the patient’s response via Bluetooth connection.

Dr. Marks described DBS as flexible, specific and less invasive than other surgical approaches. Primary candidates are the patients like Luke whose seizures originate in both halves of the brain. “This has the potential to be an absolute game-changer,” Dr. Marks said. “It’s essentially like delivering medication without all the medication side effects. That’s one way to think about this. We are directly targeting the area of interest without bathing the rest of the brain with unwanted chemicals.”

The mechanism of action of a DBS in epilepsy is not fully understood. Scientific studies have supported that certain thalamic nuclei of the brain, specifically the centromedian nuclei, are generators of the slow spike-and-wave complex and paroxysmal generalized fast activity seen in patients with Lennox-Gastaut syndrome. Studies have shown favorable seizure reduction over time possibly through modulation of network excitability through stimulation of the centromedian nucleus of the thalamus. 

Doctors will continue to monitor Luke and adjust his settings as needed. Dr. Keator hailed Luke’s patience, good humor and cooperative attitude. He considers the medical team at Cook Children’s his best friends and ploy for pranks. “He’s just a trooper, and he lets us try new things with him, which we appreciate,” Dr. Keator said. “He’s just ready to get his life going, and he’s motivated. And that makes our job a lot easier.”

Luke said having epilepsy “can be a little tough at times.” He’s glad for all the care he received at Cook Children’s and the chance to potentially pave the way for DBS in other children who have seizures. “And I hope I get better so I can go on beach vacations and go places to ride lots of trains,” he said.

His parents look forward to the possibility of Luke’s epilepsy improving to the point that he can go to school, sleep over at a friend’s house, or travel without having a seizure. They are cautiously optimistic that deep brain stimulation will provide long-term relief for Luke and other children with epilepsy. And they hold out hope that this latest twist in Luke’s journey can blaze a trail for wider options in epilepsy care.

“I prayed a lot about it. I believe a lot of things happen for a reason. I think Luke is here to show us a story, to teach us something, to show us how brave he is,” Ami said. “His attitude the whole time has been basically ‘I just want to do this to help other kids.’”

But for some patients with severe seizures who have not responded to medications or who have had significant side effects with medications, epilepsy surgery might be the best option. The goal of epilepsy surgery is to identify and resect the area of the brain that is responsible for the generation of seizures. However, identifying this brain area can be challenging.

Thanks to new techniques developed by Christos Papadelis, Ph.D., director of Research at the Jane and John Justin Neurosciences Center at Cook Children’s, the ability to better locate the source of epilepsy has improved. Working with researchers at Boston Children’s Hospital, Massachusetts General Hospital, and Harvard Medical School, Dr. Papadelis developed a novel biomarker, or medical sign, that can identify the area in the brain causing seizures with non-invasive strategies and high precision. Using premiere imaging technology such as magnetoencephalography (or MEG) and high-density electroencephalography (or EEG), the team measured the magnetic and electric activity generated by the human brain to locate the biomarker and source of seizures. This work was recently published in the Annals of Neurology, a widely-respected journal produced by the American Neurology Association.

Improvement in precision of locating the source of seizures decreases the risk that a child will suffer from disability due to surgery. It also increases the odds that children will recover function and improve their quality of life without negative consequences. While still not easy, this research will allow parents to feel even more confident about their decision to move forward with such a complex procedure as epilepsy surgery.

To help raise awareness of this rare genetic cause of neurodevelopmental disease, M. Scott Perry, M.D., medical director of neurology and director of the Genetic Epilepsy Clinic at Cook Children’s, shares basic information about the disorder and exciting advancements towards treatment for this rare disease.

What do SCN2A-related disorders look like? 

Children with genetic variants in SCN2A can develop early onset epilepsy with various levels of severity. SCN2A was first discovered as a cause of benign familial neonatal infantile seizures (BFNIS), a syndrome that often occurs in multiple family members. These children can develop seizures as newborns or infants, but can develop normally with good seizure control.

Later, SCN2A was discovered as a cause of infantile spasms and other early onset severe epilepsies of childhood, the so-called early infantile epileptic encephalopathies. The gene has also been linked to Ohtahara Syndrome, Dravet Syndrome, Migrating Partial Epilepsy of Infancy and West Syndrome amongst others. In addition, SCN2A variants are a major cause of intellectual disability, schizophrenia, and autism which may occur without associated epilepsy. A variety of other medical conditions may be present in people with SCN2A-related disorders, including sleep problems, cerebral palsy, and movement disorders to name a few.

What is the cause of SCN2A-related disorders? 

SCN2A is a gene which makes a sodium channel found primarily in the nerve cells that generate electricity. Two issues can occur with SCN2A. The first is a change in the gene which causes a gain of function – a change that allows too much sodium to enter the nerve cell and thus increases electricity – often presenting with epilepsy as a main symptom.

For others, SCN2A variants cause a loss of function – a change that decreases sodium entering the nerve cell and thus decreases electricity – more often presenting with autism and intellectual disabilities. Many mutations in SCN2A are de novo, meaning they occur spontaneously and were not inherited from the parents. This is often the case in more severe disease presentations. There are instances where SCN2A may be inherited from a parent and this is more commonly seen in benign presentations such as BFNIS.

How are SCN2A mutations diagnosed? 

Often, genetic testing can diagnose SCN2A mutations. The Behind The Seizure program provides free testing for children in the U.S. under the age of 8 years.

Magnetic resonance imaging (MRI) scans are often normal and electroencephalogram (EEG) findings may vary.

Is there a treatment for SCN2A-related disorders? 

While there is not yet a cure for SCN2A-related disorders, a significant amount of research is leading to exciting new therapies. Certain traditional sodium channel seizure drugs (for example, phenytoin, lamotrigine) have demonstrated more favorable responses for seizure control in select patients (often gain of function), while in others, sodium channel drugs may aggravate seizures.

New drugs are being developed that specifically target the abnormal channel produced by SCN2A. These treatments may provide more precise control of the channel without disrupting the function of other sodium channels like many traditional sodium channel seizure drugs. This may result in better seizure control with less side effects.

Potentially most exciting is the development of genetic approaches to therapy, treatments that don’t just treat symptoms, but aim to correct the genetic abnormality. Antisense oligonucleotides (ASO) are small pieces of genetic material that can be given to help increase or decrease production of SCN2A. This approach has been used in other genetic conditions (spinal muscular atrophy and Dravet syndrome) with success and represents a promising therapy for SCN2A disorders as well. This is just one of several genetic approaches to therapy on the horizon.

Where can you find more information about SCN2A disorders?

For more information about SCN2A and SCN2A Awareness Day, visit www.scn2a.org. The SCN2A Foundation serves as an excellent resource for information about SCN2A related disorders and helps connect a community of people living with these rare conditions. The site provides updates on SCN2A research as well.

Seizures aren’t as uncommon as one might think. In fact, one in 26 people in the United States will develop epilepsy at some point in their lifetime, according to the Epilepsy Foundation. Apply that statistic to a typical school classroom, church, workplace or family gathering, and it’s likely that at least one individual you know or love may have seizures.

Because a seizure can occur any time, anywhere, without any warning at all, it’s important for those with epilepsy to have an action plan for emergency seizure response, and for those close to them to be familiar with that plan. Seizure Action Plan Awareness Week, which kicks off Monday, Feb. 8, in conjunction with International Epilepsy Day, aims to demystify seizure disorders and arm those who live, work and spend time with someone with epilepsy with the information they need to help during a seizure emergency.

“Having a seizure action plan helps those close to you know how to best protect you from injury during a seizure, gives direction on the most appropriate medical response or rescue therapy and provides important information to first responders about your seizure type and medical condition,” said M. Scott Perry, M.D., epileptologist and medical director of neurology and the Genetic Epilepsy Clinic at Cook Children’s Medical Center. “These situations are often high-stress, so being prepared with a clear and precise plan will help you and those who love you confidently and successfully manage your epilepsy.”

Make A Plan

Some seizures, especially those that are prolonged or occur in clusters, can be life-threatening. Having a plan that dictates accurate intervention reduces response times, and decreases the risk of death and the need for additional rescue medications, according to the Seizure Action Plan Coalition.

A good plan includes tailored guidelines specific to the individual’s seizure type, medical circumstances and needs. It clearly and concisely organizes all of this vital information into a document that can be put into the hands of loved ones, friends, co-workers and caregivers so they are prepared to respond in the event of a seizure.

Components of a seizure action plan should include:

• Information about your seizure type.
• How one should respond to your seizures to help protect you from injury and get you the appropriate medical assistance.
• When to use rescue therapy medications, their names and dosing information.
• The type of help you need following a seizure and special instructions for first responders.
• A list of seizure triggers and other important information about your condition.
• Emergency contacts.

Parents of children with epilepsy should have a plan for their child. Anywhere the child frequents—be it school, church, sports activities or camp—should have a copy and teachers, school nurses, coaches and counselors should be familiar with your child’s plan. Experts say it’s important to include children in the planning process to help them feel more confident and secure that they’ll get the help they need when a seizure occurs.

“Seizure action plans are so useful for our families,” said Aubrey Esparza, neurosciences clinical nurse leader at Cook Children’s Medical Center. “They give them a guide on the best plan of action during those emergency situations when you really need a step-by-step approach to provide the safest care so that the patient has the best possible outcome.”

Enhancing Action Plan Efficiency

Esparza is spearheading an effort at Cook Children’s to improve the process of developing, accessing and updating seizure action plans for patients. Currently, paper plans are scanned into a patient’s electronic medical record making them difficult for clinicians to electronically search, track, edit and update. In some cases, there may be multiple copies—some outdated—in different places within a single chart. Working together with Esparza, a multidisciplinary team of nurses, physicians and IT professionals are developing a digital tool for building a seizure action plan directly within a patient’s electronic medical record.

The digital enhancement would mean patients’ action plans would be located in a dedicated space within the medical record and allow clinicians to easily search and update electronically. The tool will alert health care providers when it’s time for a patient’s annual action plan update, ensuring that patient caregivers have the most up-to-date rescue instructions at their fingertips. The plan can be printed for use at home, school or other places the patient frequents. The electronic seizure action plan tool will launch in 2021.

“The thing parents report most frequently about seizure action plans is that they have increased confidence in being able to manage their child’s seizures at home because they have clear-cut instructions on what to do when that seizure occurs,” Esparza said. “It helps them know when to be concerned, when to give medication and when to call 911.”

Information about Seizure Action Plan Awareness Week and the Seizure Action Plan Coalition, along with tips and tools for creating a personalized plan, can be found at seizureactionplans.org. The Epilepsy Foundation also provides helpful resources about aiding someone having a seizure at First Aid for Seizures Procedure.

Log on to cookchildrens.org to learn more about Cook Children’s Comprehensive Epilepsy Program, recognized by the National Association of Epilepsy Centers as a level 4 epilepsy center providing the highest level of care for patients with complex epilepsy.

“Virginia has intractable localization related epilepsy or drug-resistant epilepsy. If we break that down, that means she has epilepsy that has been uncontrolled by two or more medications,” said M. Scott Perry, M.D., medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children’s. “’Localization related’ meaning it arises from one area of the brain, as opposed to the entire brain at one time.” 

In early December, Virginia had minimally invasive brain surgery. It’s been nearly three weeks and for the first time in 16 years, she’s seizure free.

“We did laser thermal ablation. This means we used electrodes to pinpoint the problem area and used a laser fiber to burn that area of the brain,” Dr. Perry explained. “She went home the next day. Now we enter the patient waiting game to see how it’s going to go.”

Though epilepsy is common to children, Virginia’s story is unique. She says she was in 4th grade when she realized how much impact seizures had on her life. She began looking down on herself and looking at herself differently. She felt as if she wasn’t the same as her peers in a bad way.“

When I was younger, I definitely hid a lot more, because I was afraid that people would look at me a lot differently. I only really told people if they were coming to sleepover. As I got older, I told more people, mainly my friends and I began accepting it more,” Virginia said. 

As years passed, things became normal to her. She played field hockey with her friends and was able to do most of the same things as her peers. It wasn’t until her sophomore year in high school when the “different” feelings came up again, because her friends were beginning to drive. 

“I really noticed it again when everyone was getting their permits. But when I was a junior, things were back to normal again because driving was routine and not everyone was excited about it anymore,” Virginia said. 

Virginia’s mom, Kate, has been her advocate every step of the way. She said when Virginia first started having seizures, she thought she was just making a funny face. Her dad was holding her the next day, and it happened again. When they took her to the doctor, Virginia had a seizure in front of them and the neurologist. It was then that they started on a path to find out the cause.

 “It’s very hard to watch a child suffer from a disease that is tragically underfunded and tragically understudied, and under researched and misunderstood,” Kate said. 

Over the years, Virginia has failed 12 drugs. Medical professionals say if an epilepsy patient fails two drugs, it’s unlikely that any others will work. She has seen several doctors in her home state of Virginia and across the country. Doctors have tried several things with her case and could never pinpoint where the seizures were coming from. 

Virginia’s mother refused to allow her disease to hinder her from living a full life and doing everything her siblings could do. Kate says Virginia has traveled with her family extensively. She’s gone paragliding in South Africa and swimming with manta rays in Hawaii. She ran cross country and is even on a competitive rock climbing team. All things they knew were a risk, but a risk they were willing to take.

“I would rather have a child with a broken arm than a broken spirit,” Kate said.

While searching Twitter in the fall of 2019, Kate came across Dr. Perry’s professional profile where he regularly posts about advancements in treatment for epilepsy. She decided to seek his opinion. After securing an appointment, mother and daughter flew to Texas. In her initial appointments, Dr. Perry ran tests to see Virginia’s seizures for himself. 

“From the beginning, it felt like a very collaborative relationship and a very transparent relationship, and that just stood out to me from other patient and caregiver experiences that we’ve had in the past,” Kate said. “I felt like everyone was familiar with her case history, everyone knew why we were there, everyone knew what we were hoping for. Again, not overpromising and not being overly optimistic, but really understanding our goals and what we had already tried." 

Virginia agrees that Cook Children’s was different from other appointments she’d been to. She was happy to finally have doctors that focused solely on her case.

“At Cook Children’s, they didn’t compare my case to anyone else, but looked at it as a singular case. I think that was the difference and they also had a more positive outlook. All of the doctors were good at explaining things in a way that I could understand them, but also not making me feel dumb,” Virginia said. 

After observations, running tests, and reviewing hundreds of pages of paperwork from Virginia’s doctors over the years, Dr. Perry was confident that he’d pinpointed where the seizures were coming from. He then recommended her for epilepsy surgery. Virginia was able to have her surgery and fly home two days later.

While visiting Cook Children’s, Kate and Virginia also met Cynthia Keator, M.D., medical director of the Epilepsy Monitoring Unit at Cook Children’s who made an impact on the Cooper family. Kate says the moment she met Dr. Keator, she felt immediately encouraged and appreciated how transparent she was about what she was seeing in Virginia.

Dr. Keator said she knew from the minute she saw the data on Virginia’s EEG that she could help her, and as a doctor that is always the best feeling.

“There is something about teenagers in general and just knowing that they’ve got the rest of their life ahead of them. You’re excited to get to their breakthrough and get them better, so they can start to have an independent life,” Dr. Keator said.

Since returning home, Virginia has gone back to school to complete her senior year and study for the ACT exam. While she was at Cook Children’s waiting for her surgery, she was excited to receive two college acceptance letters. She will soon apply for her top choice, McGill University, in Montreal where she hopes to attend next year. 

Virginia says it still hasn’t hit her that she’s had a surgery that could potentially change her life. She says the best part is the hope of having a normal college experience. 

“If it works, I don’t have to tell my professors about it, and my roommates, or my friends and have that complicate my whole experience too,” Virginia said.

Dr. Perry hopes the surgery was all Virginia needs to live a normal life and that her story is a testament to why epilepsy surgery should be considered more often. 

“People don’t pursue epilepsy surgery, despite it being the one thing we can do for epilepsy where we might be able to cure it and get you off of medication,” he said. “Epilepsy surgery is vastly underutilized.” 

Dr. Perry’s ultimate goal is for her to be seizure free, off of medication, and living happily ever after.

 Kate and Virginia both agree that having a support system while dealing with epilepsy is important. Having people who are there to listen with no judgement and willing to jump in when you need them most has been helpful to them both. 

“It’s really important to find one or two super close friends who you can talk through everything with and never feel insecure when talking to them,” Virginia said. “It really helps.”

As a mother who’s dealt with epilepsy for 16 years, Kate has three pieces of advice that she hopes will help other parents:

1. Build your support group. Seek out people who might be going through something similar and that you can lean on.

2. Take care of yourself. Do things for yourself and practice self-care.

3. Listen to your gut. Don’t be afraid to seek guidance from other physicians who specialize in your child’s disorder.

Virginia has one piece of advice for anyone dealing with epilepsy.

 “Never to doubt yourself. Just because sometimes your life is a little bit harder for you than for others doesn’t mean you can’t do the exact same things as they can or get as far as, or further in life.”

“The impact of this treatment device can be pretty dramatic for the lives of the people who are candidates for it,” said Daniel Hansen, M.D., a neurosurgeon at Cook Children’s Jane and John Justin Neurosciences Center. “These are children who, five years ago, we would have told them there’s really nothing else we have to offer and you’re going to have to continue with medications for the rest of your life and manage it as best you can.”

The RNS System is a small, titanium neurostimulator about one-third the size of a credit card. During implantation, surgeons remove a portion of the skull in the same shape and size as the device and place the stimulator flush with the skull. It sits virtually undetected under the skin. Tiny wires, or leads, connected to the device are placed into the area of the patient’s brain shown to be the origin of their seizures. The RNS System monitors electrical activity in the brain and, when it detects unusual seizure-inducing electrical patterns, delivers an impulse, or stimulation, to disrupt the oncoming seizure. The technology is similar to that of a pacemaker that monitors and stimulates abnormal heart rhythms.

While approved by the FDA for use in adults, RNS can be used in select pediatric cases where all other treatments have been exhausted and where surgical removal of the area of the brain where seizures originate would cause significant permanent defects. Unlike anti-seizure medication, which can cause dizziness, drowsiness, depression or confusion, the RNS System does not cause chronic side effects. Patients do not feel the impulses it delivers.

“There are lots of kids who have responses to medicine or who are candidates for more aggressive surgeries, but there’s a good percentage of kids who we tell there’s really nothing left we can do,” Dr. Hansen said. “Now we have the ability to offer families another option and data shows, over time, you actually have a good chance of getting impressive seizure control.

A Glimmer of Hope

Wyatt Keele and his family had little hope left for relief from his lifetime of debilitating seizures. They tried everything from a ketogenic diet to multiple medications to thermal ablations of brain tissue to removing the portion of the brain where Wyatt’s seizures first originated. None of the interventions gave him significant, long-term seizure reduction or control.

“We were out of options,” Jennifer Keele, Wyatt’s mother, said. “There's no more medications for us. There's no more surgeries as far as taking out more of his brain. We were just kind of stuck.”

In February, doctors at Cook Children’s Medical Center told the Keele’s about the RNS device and its potential as a new treatment option for Wyatt. During the following months, physicians spent time mapping out the electrical activity in Wyatt’s brain using previous brain scans and electroencephalograms (EEGs) in order to pinpoint seizure location and determine potential placement of the device’s leads. By July, the Keele’s were convinced this was the right next step for Wyatt.

“My husband and I had already said that we weren't going to put Wyatt through anymore surgeries,” Keele said. “But after talking to his physicians we started researching and saw that this is a big deal and it has helped so many adults. The success rate is so high that we just couldn’t say no.”

It was the hope they longed for. The potential for Wyatt to be independent, attend school without worry, take part in activities with other kids and do all of the things his older siblings get to do without suffering from daily or weekly seizures.

“We do hope that the RNS is able to, over time, significantly control Wyatt’s epilepsy,” said Cynthia Keator, M.D, Wyatt’s epileptologist and medical director of the epilepsy monitoring unit at Cook Children’s Jane and John Justin Neurosciences Center. “We’re not sure if he’ll be able to fully come off of seizure medications, but we do hope that it'll decrease his medication burden while also decreasing the seizure burden and restoring some of his quality of life.”

The RNS device will continuously monitor and collect data related to Wyatt’s brain and seizure activity and, as it learns more and more, will adjust and improve its seizure-preventing interventions. In other words, the more data points the device collects about the electrical patterns in Wyatt’s brain, the smarter it will get in knowing when to send an impulse to interrupt a seizure, potentially improving Wyatt’s outcomes year after year.

Clinical studies of the effectiveness of the RNS System demonstrated a continuous improvement in seizure reduction over time. According to NeuroPace, at 9 years post implantation, patients experienced a median of 75 percent reduction in seizures and 28 percent experienced seizure-free periods equal to or greater than six months. Quality of life also improved, with patients reporting a rebound in cognitive function and physical and mental health.

The device will be teaching Wyatt’s doctors along the way, too. Data collected by the RNS System can be downloaded wirelessly, providing physicians with important feedback on the intensity, duration and location of seizures. This type of long-term monitoring can help physicians better pinpoint seizure activity origin and guide them in treatment decisions and options as the child grows.

“I think what will be most interesting is what data these devices provide us,” Dr. Keator said. It's another advancement in how we understand epilepsy networks and allows us to continue to find the best ways to ideally help these patients and hopefully find a cure for them.”

Dr. Hansen believes the lessons learned from RNS data collection has the potential to help more than just the device recipients.

“This really does give us the opportunity to capture that long-term data that we never had before, which I think will also be hugely impactful in the overall research of epilepsy,” Dr. Hansen said. “So all of these children and adults who have the device implanted are really creating a unique research population that we never had before. And they all understand that they're getting to contribute something to our understanding of epilepsy and how that electrical activity propagates throughout the brain and that what we find out may help someone else, too.”

#1in26

One in 26 people in the United States will be diagnosed with epilepsy in their lifetime, according to the Epilepsy Foundation. For Wyatt, that diagnosis came at just 10-months old.

“Neither my husband or I had ever dealt with anybody that's had epilepsy before,” Keele said. “So this was a big learning experience for both of us. In the very beginning, we were scared to death all the time because of what we didn’t know and all the scary things that you hear about epilepsy.”

It’s a disease wrapped in a lot of stigma and misunderstanding, Keele said, and their family—Wyatt especially—has experienced the resulting isolation. But they remain guardedly optimistic about the future.

“As parents we try very hard to make sure Wyatt doesn’t feel like he is different,” Keele said. “We feel that is so important because he always says he just wants to be normal. Unfortunately, this is our normal, but we try to tell him God made him this way because he’s one tough kid and can handle anything thrown at him. We are excited because this could be life-changing for him.”

The Seizure Recognition and First Aid Certification program helps individuals understand and recognize types of seizures, identify signs and symptoms of each, learn how to administer first aid when witnessing a seizure and outlines when to call for help.

“We sought to develop the program in-house knowing that Cook Children’s was an ideal venue to demonstrate how a company could institute wide-scale implementation of the Epilepsy Foundation's training to get large numbers of people educated,” said M. Scott Perry, M.D., epileptologist and medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children’s. “Several of our nurses completed the necessary instructor education and, subsequently, took the training and made it an online course available to our staff. We’re encouraging all staff to complete the training in an effort to make Cook Children’s seizure safe.”

Dr. Perry sits on the professional advisory board for the Epilepsy Foundation of America and chairs the Public Health and Education Committee that reviews the course’s content.

About one in 10 people may have a seizure in their lifetime, according to the Centers for Disease Control. Although common, seizures are as varied as the individuals they impact. While some may result in a visible loss of consciousness or uncontrolled movement, others may be invisible to those who lack experience with or are unaware of the nuances of seizure disorders.

“This program breaks through stereotypes about seizures, even among health care professionals,” said Aubrey Esparza, MSN, RN, CPN, neurosciences clinical nurse leader at Cook Children’s. “Seizures can present in many different ways. Some can be subtle, so it is important to know the signs to look for.”

Oftentimes, unrecognized seizures are incorrectly labeled as behavioral problems, attention deficits or even substance abuse, resulting in a lapse of timely medical treatment, according to Esparza. Knowing what to look for and being able to describe the seizure activity in detail is key in getting individuals the help they need. The certification program emphasizes the importance that seizure description plays in diagnosis and treatment and the types of information health care providers need from a witness for better diagnosis and treatment.

“When a seizure is presumed to be something else, a child is unable to receive timely medical treatment," Esparza said. "Knowing what to look for and being able to describe that seizure activity in detail gives providers so much information as to how to diagnose and treat an individual. The more we know about what an individual’s seizure looks like, the better.”

Certification was first offered in-house to Cook Children’s inpatient neurosciences staff members in September. Since then, 56 members of the neurosciences team have completed certification—now a mandatory part of their continuing education employee training. But understanding how to recognize a seizure is also very valuable for those on general medical floors and in high-traffic areas like patient registration or the cafeteria, and the training is suitable for both medical professionals and non-medical employees. All Cook Children’s staff are encouraged to complete the optional one-hour course through the hospital's employee education portal.

The certification program is also offered to families of patients at risk for seizures or newly diagnosed with epilepsy. So far, nine families have completed the training and have reported increased confidence in managing seizure activity as well as the ability to better recognize and describe seizures. Even families who have children with epilepsy for multiple years have reported that the course is extremely valuable. Training for patient families is currently offered once a week via Zoom and will be provided in-person once it is safe to do so.

The Epilepsy Foundation’s course is open to any adult interested in increasing their confidence in recognizing seizures and providing seizure first aid. It is designed for anyone who works, lives or plays in a setting where seizures could occur or who interacts with someone who has seizures, according to the Foundation.

For more information on how you or members of your organization can become Seizure Recognition and First Aid Certified, visit www.epilepsy.com/firstaid or contact your local Epilepsy Foundation.

Miller Queen suffers from a severe and debilitating form of epilepsy known as Dravet syndrome, but you’d never know it by looking at him. At 7 years old, Miller is doing things that never seemed possible like playing soccer and going to school.

“Daily life when you don’t have seizure control is just a rollercoaster,” his mother Chelsea Queen told NBC 5. “You’re kind of always on edge waiting on the next seizure to happen.”

Starting at 6 months old, Miller was having as many as 10 seizures a day. Every treatment he tried failed and his parents were afraid to take their eyes off of him for even a moment.

Then, they found Cook Children’s and M. Scott Perry, M.D.,  an epileptologist and medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children's.

“When you deal with epilepsies that are so difficult to control, it certainly becomes difficult not to feel that there’s not an answer,” Dr. Perry said.

Miller was enrolled in a clinical trial for the drug fenfluramine, which was once used as a popular appetite suppressant. Only a handful of hospitals nationwide were involved in the trial and Cook Children’s happened to be the only one in Texas. The drug completely stopped Miller’s seizures.

“The treatment completely changed his life,” Queen said in the interview with NBC 5. “He’s always been such a happy kid but now he’s able to experience life to the fullest.”

Overall, the clinical trial showed fenfluramine reduced seizures on average by about 70%. The research helped lead to approval from the Federal Drug Administration, opening up fenfluramine as a treatment for everyone with Dravet syndrome.

“The next medication to try and make you seizure-free is probably 2%, but you know what, you might be that 2% so that’s why we keep looking for it,” Perry said.

For Miller’s parents, they know this to be true.

Matt Queen, Miller’s father told NBC 5 “If something doesn’t work, don’t lose hope.”

On Nov. 1, purple lights will shine at the following locations:

• Cook Children’s Medical Center
• Sundance Square
• 7^th Street Bridge
• Will Rogers Tower
• Pier I Imports Building
• Shops at Clearfork

In addition, a ‘#1in26’ selfie statue will be displayed at the north entrance of Cook Children’s Medical Center, next to the 7^th Ave. parking garage. We encourage patient families to take a photo with the statue and share it on their social media pages with the hashtag #CookChildrens1in26.

Throughout the month of November, we will also be sharing epilepsy stories on our online newsroom, Checkup Newsroom. Topics will include a new seizure recognition and first aid program currently in place at Cook Children’s, which aims to train all staff members how to recognize and help a person having a seizure. We’ll also highlight the incredible career of pioneer neurosurgeon, David Donahue, M.D.

About Cook Children’s Epilepsy Program

Cook Children's Comprehensive Epilepsy Program is one of the leading and most advanced pediatric epilepsy programs in the country. The National Association of Epilepsy Centers recognizes Cook Children's Comprehensive Epilepsy Program as a Level 4 Pediatric Epilepsy Center. Level 4 epilepsy centers have the professional expertise and facilities to provide the highest level medical and surgical evaluation and treatment for patients with complex epilepsy.

Our program coordinates the skills of a highly specialized team of experts across neurosciences and Cook Children's Health Care System. This team is made up of epileptologists, neurologists, neurosurgeons, neuropsychologists, nurse specialists, EEG technologists, nutritionists, nurse educators, social workers and Child Life specialists, all working together to ensure children with epilepsy receive the most accurate diagnosis and advanced treatment available.

More than 13,000 infants and children with seizures are treated at Cook Children’s each year. Annually, we perform more than 6,000 EEGs and 40-50 epilepsy surgeries, making Cook Children's Comprehensive Epilepsy Program one of the busiest pediatric epilepsy centers in the nation. And with specialized diagnostic tools, like our MEG, the newest generation of advanced imaging technology is now available to even our youngest patients.

For more information, visit our website.

For most of her 20 years, Shanley Stuteville has been a patient at Cook Children’s.

She came to the medical center at the age of 3 after she began having seizures. Even as an adult, she continues to be seen by the Neurosciences team. After receiving care for so long, Shanley knows better than most how overwhelming a hospital stay can be, especially for younger kids.

“I was in the hospital last summer for my second phase [of testing], and my nurses were mentioning they were really glad I was older because a lot of the younger kids get scared,” Shanley said. “After that, my mom suggested I should write a book to help them.”

After years of testing and needles, Shanley has a wealth of empathy for younger patients. She recalls her initial feelings of fear of the unknown, but they were quickly lost when she realized her hospital was unlike any other.

Shanley began to write in July 2018, while scheduled to undergo testing at Cook Children's Neurology Epilepsy Monitoring Unit (EMU), where she would be watched 24/7 for four days to see what the source of her seizures was. The book became a family interest when her aunt began to illustrate Shanley’s medical team and created an animated world where leads, IVs and MRI machines weren’t so scary after all.

“Soon an IV was applied to my hand. Their magical spray made it something I could stand,” Shanley wrote. “It took away the pain and for that I was glad. It did not hurt, not even a tad.”

Shanley donated 50 copies of her children’s book to the Epilepsy Unit, but despite her appointments and hospital stays she’s found other ways to give back to her medical team. As a student leader at her university, Shanley completes a lot of service hours, but her service project last year was a hospital-sized treat.

As a “thank you” to her medical team, Shanley baked over 900 cookies for the Dodson Specialty Clinic staff. It took her a period of several school semesters to complete, but she delivered homemade cookies to each floor.

Although she spends an ample amount of time at Cook Children’s trying to figure out why she has seizures, it’s not uncommon for patients with epilepsy to have periods of time without seizures. Shanley would occasionally go 100 days without seizures, and even celebrated with a cake with her nearly lifelong doctor, Howard Kelfer, M.D., a Cook Children’s neurologist. However a life without seizures was never permanent.

“She’d go long periods of time without having a seizure and then one would come back around so it was really discouraging for them because they thought she was going to be over it,” Dr. Kelfer said. “It eventually became very clear that her seizures weren’t responding just to medications. It was always, ‘well she went this long without a seizure, maybe she’ll go longer this next time.”

Shanley was eventually determined as a surgical candidate after her time in the EMU last summer. Her surgery in May 2019 removed a portion of the front lobe in her brain. While she has not had a seizure since, it will take a year of no seizure activity before it can be deemed a success.

Shanley is now able to sleep through the night, a small comfort she didn’t have before her surgery. Her surgeons were also careful in the placement of her scar, which will be hidden by her hair when it begins to grow back.

“I have to say that I wouldn’t mind if it did [show],” Shanley said. “It will always be a reminder of the wonderful men and women at Cook, as well as hopefully provide an example to other children that they can walk through this and recover too.”

Shanley remains an advocate for younger patients, and is recovering quickly after her brain surgery. Her passion for patients inside the medical center has shaped her life for the last 17 years, and she is hopeful to make it a lifelong expression of gratitude.

“Shanley and her family come to all the family support groups and they’re willing to volunteer to talk to other families,” Dr. Kelfer said. “Shanley is extremely motivated to not allow her seizures define who she is.”

Following her surgery last month, Shanley will return to school this fall where she is studying to become a pediatric occupational therapist.

What is photosensitivity?

Photosensitivity is a phenomenon that occurs in approximately 3% of people with epilepsy, so this risk impacts a small percentage of people with epilepsy overall. For those with photosensitivity, exposure to certain patterns and frequencies of flashing light over a period of time may induce a seizure. For many, the trigger can be very specific and vary from person to person – certain colors or wavelengths of light, particular frequencies (often between 5-30 flashes per second), and specific patterns could be triggers.

Movies with flashing lights aren’t the only potential photic triggers in our environment. Other potential examples include:

• Strobe lights used at dances or when part of fire alarms
• Sunlight flickering off water, shining through Venetian blinds or through roadside trees
• Lights hanging down through bridges or tunnels
• Television or computer screens with rolling images

How do you know if you are photosensitive?

The easiest way to know if you are at risk for photosensitivity is through electroencephalogram (EEG) results. Often, as part of the EEG exam, patients are exposed to strobe lights at various frequencies during the study. The neurologist reviews the EEG to see if there were changes to the brainwave pattern during the lights suggesting a higher risk of seizures. This is called a photoparoxysmal response (see the image to the right). If that pattern is present, sometimes the technicians will then repeat the test using colored filters over the strobe light to see if they can make the trigger disappear. If they can, some people can wear polarized colored glasses to filter out the triggering light and avoid the photic response.

Certain epilepsy syndromes are known to have a higher association with photosensitivity. These include the idiopathic generalized epilepsies and some named syndromes below.

• Dravet Syndrome
• Juvenile Myoclonic Epilepsy
• Jeavons Syndrome
• Sunflower Syndrome
• Unverricht-Lundborg Disease

What steps can you take to avoid photic-induced seizures?

Disney did not indicate which scenes in the film may contain potential photic triggers, so the viewer must remain aware of potential triggers. There are multiple easy steps people can take to avoid photic triggers and still enjoy the film and other environments where photic triggers may be present.

• Close one or both eyes and look away during scenes with sustained flashing lights.
• If you are playing a video game or watching TV/movie and you start to get jerks in your arms/legs, turn away from the screen immediately.
• Use computer screens with glare guards.
• Turn off the autoplay features on social media (videos can automatically play on social media platforms that have strobe effects and may trigger seizures) – not sure if we want to comment on the court case Monday of Kurt Eichenwald who -was the victim of a strobe attack.
• Turn down the brightness of TV/computer screens.

While photosensitivity can be a seizure trigger for some people with epilepsy, it should not be a deterrent from enjoying these activities. Being aware of the potential for photic triggers and taking steps to avoid sustained exposure can help prevent seizures while still enjoying the event.

So go forth, grab a popcorn, and enjoy the movie – and may the Force be with you!

"Bubbles. Bubbles. Up. Up. Pop!"

The nurse taking Aaden's vitals before his doctor's appointment can't help but smile too. She's blowing the bubbles as she takes Aaden's blood pressure and weight at the Jane and John Justin Neurosciences Center at Cook Children’s.

It’s a routine visit for a little boy whose life has been entirely unpredictable until recently.

Stephanie Balderamos, Aaden's mom, smiles and soaks the moment in for all it's worth. Smiles didn't always come so quickly to Aaden or his mom. Aaden was born with tuberous sclerosis complex (TSC), a genetic disorder that causes benign or nonmalignant tumors to form in many different organs in the body.

"I had a mantra when we were adjusting to all of the lifestyle changes that come with being a parent to a child with special needs – This is our new ‘normal.’ The meaning behind that has changed so much for me after Aaden's surgery,” Stephanie said. “I know he still has TSC, and it's possible the seizures could come back, but he's not having them right now. That's a big change for us because Aaden's happy now. We're not used to that. We're used to Aaden waking up every day and having at least four or five seizures by 9 a.m. Now he can go play and be a happy little boy."

Living with TSC

Tuberous sclerosis affects approximately 50,000 people in the U.S. The brain, heart, kidneys, skin, lungs and eyes are some of the more critical locations tumors appear. When tumors form in the brain, they can cause seizures, developmental delays, intellectual and mental disorders. TSC is also considered a leading cause of medically-intractable epilepsy and autism.

M. Scott Perry, M.D., an epileptologist and medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children's, began treating Aaden when he was only 4 days old.

Aaden's first seizure occurred when he was 4 months old. Stephanie grabbed her phone to record Aaden's seizure and sent the video to Dr. Perry.

Aaden's infantile spasms lasted about a month, and doctors controlled his seizures with medicine (vigabatrin). But a new battle began in February 2017 when Aaden developed focal onset seizures.

His seizures were frightening to watch. With some seizures, Aaden wouldn't speak. With others, he babbled incoherently. His lips and eyelids would sometimes turn blue. Other times, he would shake and convulse. Some seizures lasted as short as 10 seconds, while others would last for minutes at a time. One seizure lasted more than an hour and a half.

Aaden's eyes twitched, and sometimes he held his eyes and head because they hurt so bad. Following one scary incident, Aaden stopped breathing, and he had to be rushed by ambulance to Cook Children's.

Robotic Surgery: A Precise, Life-changing Operation

By this point, Aaden had tried numerous treatments from conventional medications to research trials. While each helped reduce his seizures, none got rid of them completely. The neurology team recommended epilepsy surgery would be an option. But first, there was work to be done.

The Epilepsy Monitoring Unit at Cook Children's gathered tons of data, including EEGs and multiple types of brain scans. The information showed numerous areas in Aaden's brain had the potential to cause his seizures. Still, the data began to point to one area as the primary cause.

The data captured from video EEG and brain scans painted a picture for Dr. Perry, Neurosurgeon David Donahue, M.D., and Hayden Head, M.D., a neuroradiologist. Each test characterized the seizures differently – the PET scan measured metabolism and energy production in the brain, while the SPECT scan measured blood flow and the EEG gathered electrical activity data. All contributed like colors on a canvas to paint the picture of where in Aaden's brain, his intractable seizures arose.

For Aaden, the seizures took place in the right hemisphere of his brain. The good news was motor and language functions are a distance away from where the seizures started, so they were unlikely to be at risk during surgery. The bad news was the pathways that control vision are located near the suspected region of seizure onset. This area has the most significant potential for concern for the doctors and his mother, Stephanie.

Dr. Perry and the team narrowed the search for Aaden's seizures to a single section of his brain. However, they still needed to be more precise – to locate the smallest area of brain possible causing his seizures and to avoid damage to critical visual pathways.

Dr. Donahue performed a stereoelectroencephalography on Aaden in November 2018. This minimally-invasive surgical procedure was used to help Dr. Perry identify more precisely where Aaden's seizures began. Dr. Donahue then placed the electrodes in specific, targeted brain areas using robot assistance and imaging in the operating room.

Dr. Perry recorded additional seizures and narrowed down the region of the brain responsible for Aaden's epilepsy. With the new areas identified, Dr. Donahue found it easier to resect, or remove, the location or locations causing the seizures during surgery on May 8, 2019.

The Freedom of Living without Seizures

On Nov. 11, 2019, Stephanie sits in a room at the Jane and John Justin Neurosciences Center, waiting to see Dr. Perry and Dr. Donahue for the second follow-up visit since the surgery.

Six months after the surgery and Aaden has not had one seizure.

"I'm so glad we had the surgery. Of course, everybody is going to be scared when you think of brain surgery. But it's the best decision we've ever made," Stephanie said. "He's been seizure-free ever since. Not one seizure since the surgery."

The Disney Channel is on, and Aaden, who will turn 4 on Dec. 13, doesn't seem to have a care in the world. Well, he does have one.

"Paw Patrol?"

Stephanie breaks the news that one of her little boy's favorite shows isn't on right now. One can't help but smile that this is Aaden's biggest issue while waiting to see a neurologist and neurosurgeon.

With Aaden doing so well, it means less time at Cook Children's. Before the surgery, Stephanie looked at the medical center as a second home.

"We were here all the time. We had so many different appointments, and it wasn't just Neurology. Sometimes we would have two appointments on the same day with other departments like Urology or Cardiology," she said. "It's almost weird now not being at Cook Children's all the time. We were here a lot. But that's something that's changed for us. We were here all the time, and now we don't have as many doctor's appointments. We get to do a lot of fun things now we couldn't before. Even though we love Cook Children's."

As Stephanie finishes her thought, the door knocks and in walks Dr. Perry. The visit is to see how Aaden's doing following the surgery and to talk about the eventual goal of taking him off one of his two remaining medications for seizures. The decision is quickly made after a discussion between Dr. Perry and Stephanie to continue both medicines for now. Things are going too well after surgery.

"There are still nerves there," Dr. Perry said. "Do you start taking away some medication right away? Yeah, you could. I would love to have him on less, but I don't want to mess up the good stuff we have going on right now. You know there's a lot of work involved. There's a lot of training. There's a lot of constant learning that goes into figuring out how to do the best we can to cure a child's epilepsy. It's what makes us glad we do what we do."

Next up is Dr. Donahue. Even after years of experience as a neurosurgeon, he marvels at the child standing in front of him.

"How's his scar looking? Looking good?" Then he takes a look at Aaden. "My Lord, that's amazing."

Dr. Donahue said there's a balance when operating on children with TSC. He wants to remove as much epileptogenic tissue as possible without damaging the child.

"You have to find the fine line between aggressivity and being sensible," Dr. Donahue said. "Looks like we hit the sweet spot with Aaden. The hardest thing is to find where the seizure focus is, but our epileptologists are good, and that's what they did here. They were the ones to find that spot. It makes me amazed at how strong these children are and how they can recover. Kids bounce back. They are so resilient. Of course, it makes me feel great inside to see how well he's doing and that what we did worked, but the main thing is the kids themselves and how strong and courageous they are."

Dr. Donahue talks to Stephanie for a few more minutes and tells her he will see her again in a few months. Then he's off to his next case.

The entire visit lasts less than 30 minutes. It's happily routine. So far from where they've come, but Stephanie says much work remains. Aaden remains in speech and occupational therapy. He speaks and has the maturity level of a 2-year-old right now.

Stephanie remains cautiously optimistic about Aaden's future. She knows that there's a chance Aaden could begin having seizures again someday.

But for now, Aaden and Stephanie are living in the now and enjoying every minute of it.

"When I read about side effects before the surgery, I read about behavioral changes,” Stephanie said. “The one that stuck out in my head was ‘bad behavior.’ But it was different. We can go to the store. We can go to Target now and before I wasn't able to go anywhere. We can go to birthday parties now. For me, going to Target for 30 minutes is a significant accomplishment for us. Now, it's just like things have calmed down. It's an amazing feeling to be able to let Aaden play independently without having to keep a constant eye on him anxiously waiting for a silent seizure."

Moments earlier, the 15-year-old Weatherford, Texas teen was watching a movie with his younger sisters when all of the sudden, a fit of cursing and yelling came over him. He wasn’t doing it on purpose, but he couldn’t stop. The strangers staring at him didn’t know what was happening.

Feeling he had no other choice, it was then that Damian decided to stop going out in public.

“Everyone in the theater began pointing and laughing at him. People didn’t get it, they looked at him like he was crazy,” said Patricia Wells, Damian’s mother.

Being misunderstood is something Patricia had grown used to over the years of caring for Damian. Teachers, family members and even some doctors couldn’t comprehend how a boy who seemed so normal one moment could have frightening, emotional outbursts for no apparent reason the next.

WARNING - Some may find this video difficult to watch. It shows Damian Wells during a seizure. 

It’s hard to say how Damian ended up at this point.

At the age of 5, he was diagnosed with epilepsy. Patricia remembers holding her little boy as he would scream, a look of terror on his face. She used to call these spells, but in reality they were seizures. The medication he was prescribed helped keep the seizures at bay for many years, but something changed around the time he turned 12.

“He could be watching the Disney Channel and he would go into a rage, just out of the blue,” said Patricia. “It was like watching a horror movie and your child was right in the middle of it.”

Damian underwent an electroencephalogram (EEG), used to detect abnormal electrical activities in the brain. The test should have revealed if the fits were caused by epilepsy. It didn’t. Instead, doctors were left with little explanation and suspected his problems were psychological.

“I knew that couldn’t be right,” said Patricia. “Over time, we were told he had Tourette’s, PTSD (post-traumatic stress disorder) and many other mental disorders. None of them ever made sense.”

Damian’s life began to deteriorate. He experienced up to 50 fits a day, and by the tenth grade could no longer go to school. Scared he would hurt someone or himself, his family turned to a psychological facility for help. Shortly after, Damian ended up in the Pediatric Intensive Care Unit (PICU) at Cook Children’s. He’d been given a toxic dose of a drug used to treat behavioral issues.

While he didn’t know it at the time, this hospital stay would be the turning point for Damian.

This would be the first time he’d meet Scott Perry, M.D. an epileptologist and medical director of the John and Jane Justin Neurosciences Center at Cook Children’s.

“I was consulted by the PICU to check on a child they believed had Tourette’s,” said Dr. Perry. “Once I met the family, I realized that wasn’t the case. They described a look he would get right before a fit. It was a distinct frown, followed by fidgeting and cursing. That information was key.”

The frown they were describing is called Chapeau de gendarme, a tell-tale sign of frontal lobe seizures.

Because Damian had this stereotyped behavior (i.e. he always had a frown, followed by fidgeting, followed by cursing), Dr. Perry was confident epilepsy was to blame. He just had to prove it.

Once again, Damian underwent an EEG and once again, it didn’t reveal much. Dr. Perry wasn’t giving up though. He ordered more tests and compared those tests to the EEG results.

“I knew I was looking for something in the frontal lobe of the brain because of his stereotyped behaviors, the brief duration of each event, and the circumstances in which it occurred. When seizures come from the frontal lobe, strange, hyperactive behaviors develop,” said Dr. Perry. “I’ve never seen anyone curse during a seizure before, though, so that was unique.”

Dr. Perry’s suspicions were right. Using various tests, he was finally able to pinpoint the very spot in Damian’s brain where the seizures were occurring.

“As a mom, I spent every day afraid I was going to lose my son,” said Patricia. “Dr. Perry always said, ‘I’m going to fix this, I’m going to figure this out,’ and he did. He’s an angel. He saved my son’s life.”

In September 2015, Damian underwent a brain resection, meaning the portion of his brain where the seizures were occurring was removed.

Learn more:

• Scott Perry, M.D.
• Jane and John Justin Neurosciences Center 
• Cook Children's plays vital role in successful CBD study involving epilepsy patients 
• Drug in Cook Children's epilepsy trial shows positive results in separate trial
• Texas legalizes non-euphoric cannabidiol for seizures in epileptic patients
• Cook Children's Epilepsy Monitoring Unit

Making a school “seizure ready” can entail a number of steps and it is important to get started on these as soon as possible. M. Scott Perry, M.D., medical director of Neurology and an epileptologist at  Cook Children's, offers the following advice.

Step 1: Does your child have a seizure action plan?

One of the most important components of being prepared for the school year is having a plan in place should a seizure occur. A seizure action plan is a form provided by your medical team which describes the types of seizures a child has and what to do if one occurs. The plan covers the key components of seizure first aid, as well as for instructions on how and when to use rescue medications for the child’s seizures. A standard form is provided by the Epilepsy Foundation and is commonly used.

Click here for a Seizure Action Plan from the Epilepsy Foundation.

For future reference, I encourage parents to begin requesting updated Seizure Action Plans at least a month before the school year starts, as many clinics get thousands of requests before the start of school and completing them may take time.

Step 2: Is your child’s rescue medication appropriate for their current age and weight?

Rescue medications are commonly prescribed to patients with epilepsy and are most often used for seizures that are prolonged or occur in clusters. Each patient will have unique circumstances for which a rescue medication may be appropriate. Some patients may not have a rescue medication as part of their Seizure Action Plan – for example, if their seizures are rare, well-controlled, and typically very brief.

A variety of rescue medications are available. For prolonged seizures, particularly convulsive type, patients may use rectal diazepam or intranasal midazolam. These medications are favored because they can be absorbed quickly for rapid treatment of the seizure and they don’t require putting anything into the mouth of the person that is seizing. Rectal diazepam comes ready to use for the age/weight of the child. Currently, nasal midazolam will have to be measured out by school staff before administration, but a new ready-to-use formulation has been approved by the FDA and should be available soon.

For patients with clusters of brief seizures, rescue medications such as clonazepam can be given by mouth between seizures. Several other medications, such as diazepam, midazolam, and lorazepam, also come in oral formulations that might be swallowed or put between the gum and cheek of a patient for effect.

It is very important that parents and their providers make sure the rescue medication prescribed for the child is appropriate for their age and weight. As a child grows, the dosing of medications will change. For those patients that have rare seizures and rarely require rescue medications, it is possible that the dose prescribed years ago may no longer be appropriate and therefore, may be less likely to work if the dose is too low.

Step 3: Can your child’s school administer the rescue medications provided?

It is important to know what medications your school is able and willing to give. While rectal diazepam is commonly used in schools, there are some school districts in the U.S. that only allow the medication to be given by a school nurse or similar medical personnel, even though the drug was designed to be administered by laypeople. If your school does not have a full-time nurse, there may be times when the medication cannot be given and an alternative rescue plan may be needed. Likewise, some school districts will not administer nasal midazolam because this formulation of the drug is not FDA approved to be utilized in this manner, though in the medical profession, we’ve used it this way for many years. Talk to your school about the seizure action plan recommended by your medical team. If they are unable to give rescue medications suggested, talk to your team to see if there are alternatives or if training can be provided to the school to ensure the rescue plan is followed.

Step 4: Is your child’s school “seizure ready”?

Probably the most important step in making sure your child is safe at school is making sure the people caring for them during the day are prepared to recognize and treat seizures. Despite how common epilepsy is, many people are only familiar with one type of seizure – tonic clonic (previously referred to as “grand mal”).

It is important that teachers and staff understand what seizures look like for each child with epilepsy, so they can recognize when rescue treatments may be needed, but also to keep parents informed if seizures are occurring frequently and may require a visit to the doctor to discuss treatment changes.

Some seizures, such as absence and partial seizures, may only manifest as staring or decreased response. For these cases, it is important that staff are aware so they can recognize seizures and don’t confuse these behaviors with simply ignoring instructions or bad behavior. Finally, for some children, their first seizure may occur at school and it is important that staff be able to recognize seizures in those who may have no prior history.

There are a number of ways for school personnel to become educated about epilepsy. The Epilepsy Foundation provides many resources including online and in-person training of school nurses and staff on seizure recognition and first aid.

Click below for a couple of great tools:

Managing Students with Epilepsy – school personnel and school nurse training

Seizure Training for School Personnel

The Epilepsy Foundation will also provide an ECHO course for school nurses starting October 2019. This is an online, interactive course for school nurses that includes instruction from epilepsy experts and allows for collaborative case presentations to discuss seizure recognition, first aid, and rescue treatments. Information for this course will be available on www.epilepsy.com in the near future. A helpful Seizure First Aid poster can be found by clicking here.

Finally, the Epilepsy Foundation will host a webinar from 7-8 p.m. CST on Wednesday, Sept. 25, 2019, on rescue therapies are open for anyone to attend.

Resources For Parents:

• Cook Chidren's Comprehensive Epilepsy Program
• Epilepsy
• Sam's Law
• Seizure Action Plan
• Seizure First Aid
• Seizure Training for School Personnel
• Managing Students with Epilepsy - School Personnell and School Nurse Training

But other than that it would be hard to notice a difference in him and any other 5-year-old boy after becoming the first child at Cook Children's to undergo a trailblazing endoscopic epilepsy surgery.

Owen’s story begins at 8 months of age when his parents notice weakness on his right side. His parents know something isn't right with their son and they make an appointment for Monday with their pediatrician. But over the weekend they become afraid when they see Owen has stopped using the right side of his body.

His parents rush Owen to the nearest emergency room in Cleburne, Texas. From there, he's airlifted to Cook Children’s by CareFlight.

His initial scans show a large stroke in the left side of his brain which is soon discovered to be related to a new diagnosis of acute myeloid leukemia. He endures four phases of chemotherapy and fortunately enters remission where he remains today. While his stroke left him with right-sided weakness requiring ongoing aggressive therapy, it's his seizures that prove to be the most debilitating obstacle to overcome.

“We were so fortunate,” Allison Turner, Owen’s mom, said. “That's the day we met (Kenneth Heym, M.D.), who would become Owen’s oncologist. He happened to be on call that weekend. He met us there. He told us at that point, our kid was one of the sickest in the hospital. If we had waited to bring him in until the next day, Owen may not have made it.”

Owen’s first seizures occur in the days following the stroke, but they are controlled with medication. He’s even able to stop taking medication shortly after his initial diagnosis, but the seizures returned around age 3. His parents describe his seizures as periods of suddenly pausing in activity with a decreased response to them and sometimes unprovoked laughter. Other events are described as a sudden fall to the ground or stiffening and shaking of his arms and legs posing a significant risk of injury. Despite trials of at least six different medications – nothing helps his daily seizures.

His neurologist at Cook Children’s, Howard Kelfer, M.D., refers Owen to the Cook Children's Justin Comprehensive Epilepsy Program for epilepsy surgery evaluation. Once Cynthia Keator, M.D., took over his case, she begins a workup to determine where in the brain his seizures were arising, understanding the likelihood of seizure control with medications is minimal. Owen’s evaluation in the EMU (epilepsy monitoring unit) captures many seizures starting from the left hemisphere. Additional evaluation with a MEG (magnetoencephalogram) scan shows multiple areas of abnormal electrical activity throughout the left hemisphere both in front and behind the region of his prior stroke.

Given that his seizures arise from such a large area of Owen's brain, the epilepsy team feels his best chance of seizure freedom is to disconnect the left side of his brain from the right by cutting the fibers (corpus callosum) that connects the two sides of the brain.

One traditional approach to this type of surgery is corpus callosotomy, which often involves a large incision on the patient’s skin, opening a large hole in the skull, and then cutting the corpus callosum in half. While considered by many to be the “gold standard” with good seizure control rates, after-surgery care involves a lengthy recovery in the hospital and then at home. While Owen’s family wants better seizure control, they’re reasonably hesitant to undertake such an invasive surgery.

Fortunately, Cook Children’s neurosurgeon, Daniel Hansen, M.D., is one of only a few pediatric neurosurgeons in the United States who has experience doing similar procedures, using less invasive endoscopic techniques. Endoscopes (small video cameras with channels for operating tools) allow the surgeon to perform surgery through much smaller openings in the skull. When successful, this means a smaller incision, less surgical blood loss, quicker operating time, shorter hospital recovery, and the same chance of seizure freedom post-operatively as if undergoing a more traditional open surgery.

Owen’s family understood that endoscopic epilepsy surgery is the leading edge of advancement and their child would be the first such surgery at Cook Children’s, and one of only a few in the country that have been reported.

“Giving their consent and placing trust in our team, we went forward with surgery,” Dr. Hansen said. “The operation itself went well. We were able to completely disconnect the two hemispheres of the child’s brain using a bony opening not much larger than an inch square, and his recovery in the hospital was quick.”

“After everything we’ve been through, I don’t know if you ever say you are comfortable. I guess we’ll always be on guard,” Allison said. “But we’re a little more relaxed now. Before the surgery, we never knew when a seizure would come on. Owen couldn’t go outside and play without one of us with him.”

Owen is now 9 months out of surgery and the family has noticed no seizures since. He’s an active young boy who is making steady strides in kindergarten now that his uncontrolled seizures have stopped. While it remains too early to speak to years of seizure control, doctors say this is an encouraging start.

Given the successful outcome with Owen, Cook Children’s has since performed two additional procedures with similar favorable results. The Epilepsy team hopes to expand the number of children who are candidates for this type of surgery in the future. Such children will have medically refractory epilepsy and will have undergone a thorough evaluation by the team at Cook Children’s. Potential surgeries that can be performed endoscopically include complex surgeries including corpus callosotomy, single lobe disconnections, focal lesion resection, and functional hemispherectomy. As the team’s experience grows with this technology and technique, its use may expand beyond this short list.

And in the process changing more lives for the better.

“It has been such a relief for us. It was a huge decision to disconnect his brain. Just saying those words … But this was the best thing for him,” Allison said. “He has flourished. He’s made improvements by leaps and bounds. Just the progress in everything. His speech, school work, everything. His whole body is functioning with just the use of one side of his brain. He can’t throw a football with his right hand and he has problems with his fingers on his right hand. He can’t pick up a Cheerio with his right hand. But other than that, I don’t know if anyone would notice a difference in him and any other child.”

A rare disease is defined as any disease affecting fewer than 200,000 people in the U.S.¹ While individually, each of these diseases is rare, as a group, they are quite common. As many as 1 in 10 individuals may have a rare disease and half of those are children.

Importantly, up to 80 percent of rare diseases have a genetic basis yet only 5 percent of these diseases have treatments.² For these reasons, it’s important to bring awareness to rare diseases and to continue developing expertise and support for research to find cures.

M. Scott Perry, M.D., medical director of Neurology and the Genetic Epilepsy Clinic at Cook Children’s, discusses some of the rare diseases he cares for and how bringing awareness to these conditions can impact patients with other conditions.

What are some of the rare diseases you encounter in your Genetic Epilepsy Clinic?

Two of the most common conditions I treat are Tuberous Sclerosis Complex (1 in 6,000) and Dravet Syndrome (1 in 20,000), though I encounter a variety of other rare genetic-based epilepsies on a daily basis. Tuberous sclerosis is estimated to affect approximately 50,000 people in the U.S and presents with a variety of tumors that can grow in the heart, brain, kidneys and eyes – as well as skin manifestations, seizures, and delays in development. Dravet syndrome may affect as many as 1 in 16,000 children in the U.S. and presents with seizures – often prolonged seizures with fever initially which evolve to multiple other seizure types including tonic - clonic, absence, myoclonic and “drop attacks” by age 2 years. Children are often normally developing initially but demonstrate a slowing or decline in development after onset of their seizures. For both of these conditions, the epilepsy is a major component and often seizures are resistant to the available treatments – thus one reason for continued research.

How have you seen research into these conditions change treatment?

So often with neurological conditions, especially epilepsy, we’ve focused on treating the symptoms – meaning the seizures. Both of these conditions have a genetic basis that results in seizures, but also a host of other problems such as difficulties walking, problems with sleep cycles, behavior, and feeding for example. By understanding the genetic basis of the disease, we hope to develop therapies targeted at the source of the condition, such that multiple symptoms can be treated and one day the disease cured. For tuberous sclerosis, understanding the genetic mechanism of the disease led to the development of everolimus, a drug that targets an important step in tumor development in this condition. By using this drug, we now have a way to stop or slow the growth of some of the tumors in this condition. The drug has also shown ability to reduce seizures in children with tuberous sclerosis.

For Dravet syndrome, several new drugs have been investigated and either approved (Epidiolex®/cannabidiol) or submitted for approval (Fintepla®/fenfluramine). These drugs, along with stiripentol (approved 2018), are the first drugs to be studied and approved specifically for Dravet syndrome. We know the gene which causes the majority of Dravet syndrome is SCN1A which encodes a sodium channel important to brain function. Researchers are now developing treatments which target genes which regulate how much SCN1A is made to increase the availability of healthy SCN1A in these patients. This treatment (antisense oligonucleotides) gets at the root cause of the condition and holds potential to treat seizures and many other complications of the disease – potentially reversing it completely one day.

Does Cook Children’s participate in research for rare conditions?

Absolutely. In Neurosciences we have recently participated in trials of both Epidiolex and Fintepla for Dravet syndrome and Lennox Gastaut syndrome. We are preparing to launch additional drug trials this year for these conditions as well. I have been working with researchers to develop trials for antisense oligonucleotides mentioned earlier. We are also planning to start a trial for CDKL5, another rare form of genetic epilepsy and we participate in collaborative studies of tuberous sclerosis.

Why is it important to study rare diseases?

As we said earlier, while these diseases are rare they are actually quite common as a group. As many of these diseases have a genetic basis, research into cures directed at this genetic etiology potentially hold clues to curing a number of conditions. If we can find a method to correct the gene dysfunction in Dravet syndrome, then we may be able to apply the same science to cure other genetic epilepsies such as SCN2A, SCN8A, KCNQ2-related epilepsy, etc.

What are you most excited for in the coming year for treatment of rare disease at Cook?

This summer we plan to open our Adult Genetic Epilepsy clinic. One of the great things about research into rare diseases is that we are now seeing kids with these rare syndromes live to be adults. The downside is that adult providers have never had experience with many of these conditions and are mostly unprepared to care for them the way we do. In addition, we don’t know a lot about how these rare epilepsies act in adulthood – do they develop new or unique symptoms as adults that we didn’t see as children? The Adult Genetic Epilepsy clinic will be staffed by myself and an adult epileptologist who will work with me to care for these patients – ultimately developing the expertise needed to provide the best care as they transition to adulthood. We hope to use this clinic as a model for other institutions to implement similar clinics in the future.

1. FDA Office of Orphan Products Development.
2. “Rare Diseases and Orphan Products: Accelerating Research and Development” Committee on Accelerating Rare Diseases Research and Orphan Product Development Board on Health Sciences Policy.

She’s trying to be calm, but you can see her fidget as she waits for M. Scott Perry, M.D., an epileptologist and medical director of Neurology at Cook Children’s, to walk in the room.

As soon as Dr. Perry walks in the door, the anxiety that Stephanie’s been trying to hide melts away.

For a moment, this isn’t a doctor and patient family greeting each other, it’s old friends catching up. After all, Dr. Perry began caring for Aaden when he was only 4 days old and he has been with the family throughout his treatment for seizures as a result of tuberous sclerosis complex.

But then it’s time to get down to business.

“I find it easiest just to talk with you about what we went through in conference so you know what I told everybody when we came up with our decisions,” Dr. Perry tells Stephanie.

He is referring to a previous conference where a team of neurologists, a neurosurgeon, a neuroradiologist and more gathered to discuss a treatment plan for Aaden. Now it’s time to discuss the plan with Stephanie.

First, Dr. Perry covers familiar ground. He talks about Aaden’s history. In the conference with the Cook Children’s staff, and now in the room with Stephanie, Dr. Perry marvels at her ability to detect Aaden’s seizures. “It’s almost psychic the way she knows her child is about to have a seizure. She detects a slight difference in her little boy’s mood or a quick far-away look,” Dr. Perry said. “Stephanie is never wrong in detecting the seizures.”

“I’ve always been able to notice it, as soon as he started having seizures,” Stephanie said. “To be honest, I don’t know how I knew. I just know when he’s having one. It’s almost as if he looks at me like. ‘Hey mom something’s wrong.’ I can tell by the look on his face. He’s looking for someone to comfort him or grab him.”

After they go over his history, it’s time to look ahead at what’s next. David Donahue, M.D., a neurosurgeon at Cook Children’s, will perform a surgical procedure called stereo-EEG to pinpoint the location in Aaden’s brain that is causing his seizures.

“Aaden will undergo Stereo EEG placement,” Dr. Perry said. “The initial preoperative workup has localized his seizure onset to a region of the brain on the right side-most likely towards the back part, but he has a number of tubers and potentially epileptogenic areas within the region we’ve localized. We will use Stereo EEG to further hone the localization of seizure onset in hopes of limiting any potential resection to the smallest area possible. We will place a number of depth electrodes into the brain to map out the area of onset – the epileptogenic network. From that information, we will then propose a final epilepsy surgery option to the family.”

Dr. Perry carefully explains the procedure. They talk about the possible risks. For this procedure and where the placement is taking place, a loss of vision is the biggest concern if they have to take out brain tissue in the back, but they hope to avoid this with more precise mapping through Stereo-EEG.

Stephanie admits to being scared, but she also lets Dr. Perry know she believes in him and trusts him completely. They finish talking about the procedure. Dr. Perry asks Stephanie if she has any more questions. Then he examines Aaden briefly before telling the family goodbye.

Next up, Dr. Donahue walks into the room. The seasoned neurosurgeon has performed countless surgeries on children’s brains, but he knows this is never a moment that the patients’ families take for granted.

He tells Stephanie he understands she’s nervous. He goes over the details of the surgery. He explains the look of the electrodes that will be placed in Aaden’s brain (think piano wires). He lets her know that this is what’s best for Aaden as they look ahead to a resective surgery that will hopefully help control or even end the little boy’s seizures.

By the end of the meeting, you can see a different Stephanie. She’s still scared, but there is new found assurance and confidence of the people taking care of her little boy.

Dr. Perry sympathizes with Stephanie, but he is confident this is the best opportunity to help Aaden.

“Epilepsy surgery is an art – and the ‘value’ of the surgery, like art, is sometimes in the eyes of the beholder,” Dr. Perry said. “For example, seizure freedom is the goal of every surgery, but it can sometimes come with adverse functional consequences, like weakness or vision loss. Some consequences obviously outweigh the benefit of seizure reduction/freedom and make surgery a no-go, in others the functional consequences may be acceptable.

“The art is a discussion and decision making process between the epilepsy team, the family, and the patient to decide where the value lies. The surgery itself is an art – as there are multiple potential ways to do it – not just the technologies used (laser ablations, resection, neuromodulation, etc) but the way the technique is used, for example, approaching from different angles to avoid damage to normal brain. These different options all come with a variety of benefits/risks, each which must be weighed with the potential to achieve the end goal of seizure freedom with minimal adverse effects.”

After all, Balderamos watched the doctors at Cook Children’s try every other treatment option available for her son, Aaden, before deciding that surgery was the correct choice.

Aaden was diagnosed with tuberous sclerosis complex (TSC) at 4 days old. TSC is a genetic disorder that causes benign, or nonmalignant, tumors to form in many different organs in the body. The brain, heart, kidneys, skin, lungs and eyes are some of the more critical locations where these tumors appear. When tumors form in the brain they can cause seizures, developmental delays, intellectual and mental disorders. TSC is also considered a leading cause of medically-intractable epilepsy and autism.

At 4 months old, Stephanie captured on video Aaden’s first focal seizure. She sent the video to Aaden’s neurologist Scott Perry, M.D., an epileptologist and medical director of Neurology at Cook Children’s. The next day Aaden started on a medication to treat those seizures. After a week, that seizure type stopped, but more would soon arise.

Four months later, infantile spasms started and they have continued in some form to this day – intractable to every therapy Dr. Perry has prescribed.

Aaden has tried several medications for his seizures and at times he reacted poorly to the medication. Dr. Perry talked to Stephanie about surgery early on, but she asked for other options.

Dr. Perry placed Aaden in a research trial of cannabidiol (CBD) oil for seizures in TSC. While he had seen success for other patients, the trial was not a success for Aaden and he needed other treatment options.

Like many with TSC, Aaden’s epilepsy has been intractable to therapy. The tumors in Aaden’s brain cause between eight to 10 seizures on average per day. Treatments thus far haven’t achieved the results that both Dr. Perry and Aaden’s mom had hoped.

“Intractable epilepsy, or the failure to achieve seizure freedom after trials of two appropriate chosen and dosed antiepileptic drugs, has profound impact on quality of life, psychosocial function, cognitive function, and mortality risk,” Dr. Perry said.

For these patients, surgical therapy, consisting of localization and subsequent resection/ablation of the epileptogenic zone can result in favorable seizure reduction and for many, seizure freedom. Among patients with intractable epilepsy, an estimated 5-50 percent may be candidates for epilepsy surgery.

"The decision to perform epilepsy surgery as treatment is a difficult process,” Dr. Perry said. “First we have to make sure we know exactly where in the brain the seizures are coming from, then we need to know the function of the part of the brain we plan to operate on. The goal is to make the seizures stop while avoiding an injury that would hurt the child’s speech, cause weakness, or cause loss of sensation.”

Aaden’s treatment has been a series of a couple of steps forward and then three more back. Now surgery remains the next option. David Donahue, M.D., a neurosurgeon at Cook Children’s, will operate on Aaden at some point in the near future in hopes to control Aaden’s seizures better, but a lot of work has to be done before he is ready for the operating room.

“I wanted to try other options before, surgery,” Stephanie said. “I was scared to think of surgery. I wanted to see if anything else could work. Sometimes I regret not doing the surgery earlier. But then I think, well at least I tried everything else before making that decision.”

Stephanie says she won’t allow herself to think about the surgery yet, but that’s just so she can continue with her daily life. She is the mother of Aaden and his older brother Eli, who is 8.

“When I think about the details of the surgery, it makes me sick to my stomach. I haven’t thought about it much,” Stephanie said. “When it pops into my mind, I push it to the side. That’s the way I handle it. I get really nervous. I will think about it about two days prior to the surgery when I have to get everything together.”

For more on this topic:

• The Art of Treating Epilepsy: Diagnosis and Treatment
• The Art of Treating Epilepsy: The Team Behind Aaden's Care
• Comprehensive Epilepsy Program
• Meet our Neurosciences Team
• Choosing Our Neurosciences Center

But in this room, the discussion isn’t about mergers or quarterly profits. Their discussions center on the quality of life for a child and matters of life and death.

The men and women meeting on this morning are part of the Justin Neurosciences Program at Cook Children’s. They meet weekly to discuss complex epilepsy cases and to plan the treatment ahead for each patient.

Sitting around the table are epileptologists, neurologists, neurosurgeons, neuropsychologists, neuroradiologists, an epilepsy program coordinator and the epilepsy research project manager.

This is a frequent occurrence at Cook Children’s. A dedicated team coming together to map out their treatment plan for their young epilepsy patients, most for whom conventional treatments have not yet been successful

“A good epilepsy program will have representation from neurosurgery, neurology, neuroradiology and neuropsychology at the least there to discuss,” said M. Scott Perry, M.D., an epileptologist and Medical Director of Neurology at the Jane and John Justin Neurosciences Center at Cook Children’s. “What is good about our team is that it is an even exchange between us all. When we gather together, we aren’t just telling each other what to do, but we are making suggestions, discussing risks and benefits and giving everyone an opportunity to ask their own questions given their unique knowledge of epilepsy. No one person runs the show. It is a team effort - always.”

The last patient discussed on this morning is Aaden Balderamos. Aaden, who will turn 3 years old in December, has been a patient at Cook Children’s since he was 2 days old when he was transported by a Cook Children’s ambulance to the Neonatal Intensive Care Unit.

Aaden was diagnosed with tuberous sclerosis complex at 4 days old after tumors were found in his heart and in his brain. He developed epilepsy soon after.

Tuberous sclerosis complex (TSC) is a genetic disorder that causes benign, or nonmalignant, tumors to form in many different organs in the body. The brain, heart, kidneys, skin, lungs and eyes are some of the more critical locations that these tumors appear. When tumors form in the brain they can cause seizures, developmental delays, intellectual and mental disorders. TSC is also considered a leading cause of medically-intractable epilepsy and autism.

Aaden has tried a number of treatments up to this point, from conventional medications to research trials. While each helped reduce his seizures, none got rid of his seizures completely – thus the team recommended a presurgical evaluation to see if epilepsy surgery would be an option for his family to consider. Time spent in the Epilepsy Monitoring Unit at Cook Children’s gathered tons of data, including EEGs and multiple types of brain scans, showing that multiple areas in Aaden’s brain have the potential to cause his seizures, but the data begins to point to one area as the primary cause.

The data captured from video EEG and brain scans paint a picture for Dr. Perry (neurology), Dr. Donahue (neurosurgery) and Hayden Head, M.D. (radiology). Each test characterizes the seizures in a different way – the PET scan measures metabolism and energy production in the brain, while the SPECT scan measures blood flow, and the EEG electrical activity. All contribute like colors on a canvas, to paint the picture of where in Aaden’s brain his intractable seizures arise.

For Aaden, the seizures take place in the right hemisphere of his brain. The good news is motor and language function are a distance away from where the seizures arise, so they are unlikely to be at risk during a surgery. The bad news is the pathways that control vision are located near the suspected region of seizure onset and have the greatest potential for concern for the doctors and his mother, Stephanie.

At this point, while Dr. Perry and the team have narrowed the search for Aaden’s seizures to a single section of his brain, they want to be more precise – to locate the smallest area of brain possible causing his seizures and to avoid damage to important visual pathways. They recognize they have not yet collected enough data to decide the type of surgery Aaden needs, so Dr. Donahue will perform a stereoelectroencephalography on Aaden in November.

Stereo EEG means Dr. Donahue will place thin electrodes (think piano wires) in Aaden’s head, focusing on the region of brain the presurgical workup suggested was the source of his seizures. This minimally-invasive surgical procedure will be used to help Dr. Perry identify more precisely where Aaden’s seizures begin. Dr. Donahue will place the electrodes in specific, targeted brain areas using robot assistance and imaging in the operating room.

Once those EEG leads are placed, Dr. Perry will record additional seizures and narrow down the region of brain responsible for Aaden’s epilepsy. Once those areas are identified, it will make it easier for Dr. Donahue to resect, or remove, the location or locations causing the seizures in a later surgery and make for the best outcome possible for Aaden.

Stephanie says the mere thought of her little boy requiring surgery makes her sick to her stomach. For now she’s trying hard not think about. She said she will wait until it’s closer to the surgery to get “everything together.” It’s her way of coping.

“I get really nervous, just the thought of it. Aaden’s so little. He doesn’t know what’s going on. He’s without a care in the world,” Stephanie said. “He doesn’t know he needs surgery, brain surgery. He’s so innocent. He doesn’t deserve it. It makes me sad.”

But then the mom who has watched her child suffer since the day he was born pauses. She knows this is what’s best for her son. She hopes for seizure control. It would be life altering if her child didn’t have as many seizures a day or they could go week without them. But as a mom, she can’t help but hope for so much more.

“Aaden is already such a happy, little boy. I can only imagine how much better he would feel and how different his life would be if he was finally seizure free,” Stephanie said.

Welcome to the First in a Series

More than 3.4 million people in the US live with active epilepsy and over 150,000 new cases are diagnosed each year. It sounds astonishing, but 1 in 26 people will develop epilepsy in their lifetime and over one-third of those patients will fail to respond to treatment with medication. The evaluation and treatment of epilepsy is an art form.

This is the story of one of Cook Children’s young patients and the art of treating epilepsy.

To view the entire series click below:

Part 2

Part 3 

Part 4

During the last month of Stephanie Balderamos’ pregnancy, a routine prenatal screening found cause for alarm.

The tests showed some abnormality with her baby’s heart. Doctors agreed Stephanie’s baby would need more testing once he was born.

Following his birth, a cardiac ultrasound confirmed a tumor on the heart of Aaden.

“I still thought were going to go home and I thought I would have a healthy little boy,” Stephanie said. “The doctor came in and told me they had found tumors in his heart. I didn’t think anything at the time. I couldn’t think. I just broke down crying. Then I wanted to know, ‘Is Aaden going to live?’ That’s the first thing I asked. I wanted to make sure he was going to live and get through it.”

Stephanie soon learned that Aaden will live, but he might have many problems moving forward.

Cook Children’s Teddy Bear Transport delivered Aaden from his birth hospital to the medical center where he was placed in the Neonatal Intensive Care Unit.

On the third day at Cook Children’s, Aaden was diagnosed with tuberous sclerosis complex. Tuberous sclerosis complex (TSC) is a genetic disorder that causes benign, or nonmalignant, tumors to form in many different organs in the body. The brain, heart, kidneys, skin, lungs and eyes are some of the more critical locations that these tumors appear. When tumors form in the brain they can cause seizures, developmental delays, intellectual and mental disorders. TSC is also considered a leading cause of medically-intractable epilepsy and autism.

“I didn’t look up his diagnosis until I got home. I didn’t sleep, I didn’t eat or anything,” Stephanie said. “We were there for four days and everything was such a blur at that point. I just remember crying the whole four days. It was pretty tough.”

Before she went home, she remembers sitting in her NICU room alone with her baby before everything changed for her.

“All the sudden several doctors came into the room,” Stephanie said. “There was a neurologist, a cardiologist, a kidney doctor and a lot more. I remember being there and this whole team comes in and spoke with me. They told me about Aaden’s diagnosis. It was very scary at first. I was there by myself and then the whole room is filled with doctors.

“But it was at that point I understood, ‘Wait a minute. I have a team of doctors here and Aaden is going to have a whole team of doctors treating him, probably for the rest of his life. This is a good thing. He has a team on his side and they are all working for him.”

With a plan in place and many more visits to Cook Children’s planned, Stephanie went home still in a bit of a daze. She had once thought these were the problems of other people. They were the kind of things you see in movies or social media, but not to you.

“Once it happens to you, this is your normal now. I have to get used to it. I have no choice,” Stephanie said. “I remember thinking, ‘How am I ever going to go home? Am I ready to take care of him on my own? Am I just going to be waiting for a seizure?’ At that point, I’d never seen a seizure before. I’d never had to deal with it. My main concern was knowing what to do. That’s when I decided I had to look this up and see what I have to do in case Aaden has a seizure.”

Stephanie began her research like any of us would – online.

She read about tuberous sclerosis complex, she looked up seizures on YouTube and she found a mom’s support group on Facebook. Through the Facebook site, Stephanie met five other moms in the area and learned that many kids survive and live long, fruitful lives with tuberous sclerosis complex.

All of Stephanie’s research prepared her for when Aaden had his first seizure when he was 4 months old. Stephanie grabbed her phone to record Aaden’s seizure. She sent the video to Scott Perry, M.D., an epileptologist and medical director of Neurology at Cook Children’s.

The video caught Aaden’s infantile spasms, which lasted about a month and were controlled with medicine (Sabril).

But a new battle began in February of 2017 when Aaden developed focal onset seizures that continue to this day.

Dr. Perry has been a constant in Aaden’s life since he was just a few days old and he continues to be one of the little boy’s primary physicians as he turns 3 in December, 2018.

“My trust in Dr. Perry has grown over time because you know when you have the right doctor taking care of your child. I feel that about Dr. Perry,” Stephanie said. “I trust him 100 percent. Every choice I’m going to make about Aaden, I call Dr. Perry first. If he says yes to something, I do it. If he says no, I don’t. It’s just about trust.”

That faith is returned in Dr. Perry’s opinion of Stephanie. In a consult with other doctors, Dr. Perry marveled at Stephanie’s ability to notice her son’s seizures. Sometimes the seizures are almost impossible to detect, even to a trained eye. But Stephanie knows when they occur. She said she can tell by the look on Aaden’s face. It’ as if “he looking at me like, ‘Hey mom something is wrong.’”

Dr. Perry says he always listens to Stephanie because she has immersed herself in the care of her child and she’s around her child more than anyone else.

To say the birth of Aaden has been life-changing for Stephanie and other members of her family is an understatement. Their schedules run around Aaden’s schedule. Sometimes they have to change their plans if Aaden has had a seizure. Other times they have to make arrangements on who will be taking him to the doctor that day.

With so much of her life now focused on Aaden, Stephanie said she’s not the same person she was before he was born.

“Having our lives change so drastically also made me grow spiritually,” Stephanie said. “I had to lean on God for that deep inner strength to move forward. Our faith is a big part of our lives. Knowing we have God on our side to comfort us during hard times gives me peace. We have so many people who care about Aaden and are always praying for him.”

Stephanie knows that Aaden’s epilepsy has also impacted the life of her older son Eli, who is 8. Because of Aaden’s illness, the family isn’t able to go out to as many events or places as other families if Aaden isn’t feeling well. But Stephanie said Eli is always very understanding of this as well as his younger brother’s schedule and doctor appointments.

“I know being a sibling to a child with special needs is hard because of his experiences, but this has also made him very protective of his brother,” Stephanie said. “They adore each other and have a very special bond. Watching how much Eli does for Aaden melts my heart.”

With their life turned upside down, Stephanie wishes for a sense of normalcy in her home.

Eli and Stephanie have watched Aaden have seizures where he doesn’t speak, while other times he babbles incoherently. They’ve seen his lips and eyelids turn blue. They’ve seen him shaking and convulsing.

They’ve watched seizures as short as 10 seconds, while others last minutes. One seizure lasted more than an hour and half. Lately, Aaden’s eyes twitch now and sometimes he holds his eyes and head because they hurt so bad.

“When we first found out about Aaden’s illness we were in disbelief,” Stephanie said. “What made it even harder was the fact that we did not know what the future would hold for Aaden, and that is still true to this day. I wake up every day not knowing what the day will hold. Some days he might have one or two seizures, others he will have six to eight. Some days the seizures are mild, other days they are more severe and I have to use his rescue meds.

“I have held my son in my arms and watched him quickly deteriorate as he gasped for air and suddenly stopped breathing. These kind of things change a person. I am not the same person I was before Aaden was born. I remember asking myself when would things get back to normal, and then one day I realized this was our ‘new’ normal. Our days now consist of meds twice a day, therapy three times a week and a calendar full of doctor’s appointments.”

Aaden has had to be rushed to Cook Children’s by ambulance after he stopped breathing. All in all, it’s been scary and things seem to be getting worse.

But there is hope. 

Next Week: The Art of The Deal - Following the medial team through presurgical evaluation and the clinic vist to discuss potential surgical options.

Struggling to make it in the music industry, he gains notoriety when he has a seizure on stage and the video of the event goes viral. The portrayal of the seizure itself is inaccurate, but more troubling is the way the film chooses to make the diagnosis of epilepsy comedic.

Fans of the rapper begin to refer to him as “seizure boy” and even create a ridiculous dance to mock the seizure he had on stage. The official website for the film states “the young rapper with big dreams has one night to bounce back from major embarrassment.”

The fact they label the event of having a seizure in public as an embarrassment only feeds further bias and ridicule for those that suffer from epilepsy. Given 1 in 26 people will suffer from epilepsy in their lifetime, it is a diagnosis every person should be familiar with. It is unfortunate in this day and age, there is still so much misunderstanding, misrepresentation, and stigma for those with epilepsy. Media has the power to educate and raise awareness on a scale unlike any other, yet media has a long history of feeding bias, fear, and confusion about epilepsy.

What is the history of epilepsy in media?

Epilepsy and people with seizures have been represented in film for many years. An analysis of characters with epilepsy since the 1950s show that most characters are portrayed as sad, damaged individuals that are feared and often linked to psychiatric disease.⁽¹⁾ 

The seizures shown on film are almost always convulsive type and violent, though that represents only a small subtype of seizures. This inaccurate portrayal has not improved with time. An analysis of epilepsy in film since 2004 showed almost all seizures depicted remained convulsive type and most were uncontrolled, yet in reality 70 percent of patients gain control of their seizures with medication.⁽²⁾

When simple seizure first aid was delivered in film, 96 percent was performed by a healthcare professional, yet inappropriately provided in 57 percent of the cases. In 97 percent of the portrayals, the cause of the epilepsy was known, though in reality only about 30 percent of epilepsy has a defined cause. These inaccurate depictions set unrealistic expectations for patients, but more importantly teach inappropriate behaviors for those that may be called on to help a person having a seizure in public.

Print media doesn’t fare much better. Newspapers covering neurological conditions were found to utilize stigmatizing language in 21 percent of their stories, and epilepsy represented the most commonly represented diagnosis (30 percent). ⁽³⁾

The advent of social media has taken the ability to marginalize those with epilepsy to another level. Consider this, the internet has become to “go-to” source for medical knowledge with  more than 60 percent of adults reporting they search for medical information on the web – many people using social media sites like Twitter, YouTube, and Facebook to find information.

One would hope user generated information on these platforms would be more accurate and sympathetic, but is it? A seven day analysis of “tweets” related to seizure(s) found over 10,000 tweets.⁽⁴⁾ Of these, nearly 10 percent were written specifically to ridicule and over a third were metaphorical – that is comparing abnormal movements to “seizures” much like the way the “seizure dance” is portrayed in “The After Party.” Overall, 41 percent of tweets were considered derogatory. YouTube videos suffer from inaccuracy as well, with up to a third of videos labeled to depict seizures clearly depicting non-epileptic events – again spreading misinformation. ⁽⁵⁾ In addition, up to 10 percent of videos related to epilepsy/seizures can been labeled as inaccurate or derogatory. ⁽⁶⁾

So much work remains to raise epilepsy awareness throughout the world. Media presents a unique and powerful resource to educate the public on this common condition, its varied presentations, the availability of treatments, and the appropriate response to a person having a seizure. Increased awareness will hopefully erase fear, inaccuracies, and bias towards those with epilepsy.

When films like “The After Party” are created in the name of “entertainment”, they do nothing more than increase the stigma for those with epilepsy, erasing all we in the epilepsy community work to alleviate each day.

References

1. Kerson JF, Kerson TS, Kerson LA. The Depiction of Seizures in Film. Epilepsia 1999 40(8):1163-1167.
2. Moeller AD, Moeller JJ, Rahey SR, Sadler RM. Depiction of Seizure First Aid Management in Medical Television Dramas. Can J Neurol Sci 2011 38(5):723-7.
3. Caspermeyer JJ, Sylvester EF, Drazkowski JF, Watson GL, Sirven JI. Evaluation of Stigmatizing Language and Medical Errors in Neurology Coverage by US Newspapers. Mayo Clin Proc 2006 81(3):300-6.
4. McNeil K, Brna PM, Gordon KE. Epilepsy in the Twitter Era: A Need to Re-Tweet the Way We Think About Seizures. Epilepsy Behav 2012 23(2):127-30.
5. Brna PM, Dooley JM, Esser MJ, Perry MS, Gordon KE. Are YouTube Seizure Videos Misleading? Neurologists Do Not Always Agree. Epilepsy Behav 2013 29(2):305-7.
6. Wong VS, Stevenson M, Selwa L. The Presentation of Seizures and Epilepsy in YouTube Videos. Epilepsy Behav 2013 27(1):247-50.

Watch the full story by clicking here.

Cook Children’s recently participated in multicenter studies of the drug in treatment of patients with Dravet syndrome and is currently enrolling patients in a study for Lennox Gastaut Syndrome.

The research trials sponsored by Zogenix focus on a low-dose, liquid solution of fenfluramine, which was previously used in “fen-phen” for obesity and ultimately taken off the market following evidence it was related to adverse effects on heart valves.

Dravet syndrome affects an estimated 20,000 patients in the United States. Dravet results in a severe epilepsy with seizures typically resistant to treatment with currently available therapies.

The trial found that fenfluramine reduced the frequency of convulsive seizures by a median 62.7 percent, compared with a 1.2 percent median reduction in patients taking placebo, meeting the main goal of the trial.

Dr. M. Scott Perry, medical director of Neurology and Director of the Genetic Epilepsy Clinic at Cook Children’s said, “This drug is a game-changer for patients suffering from Dravet Syndrome. Rarely do we get a treatment for epilepsy which reduces seizures so significantly, especially in an epilepsy syndrome that is this refractory to therapy. I can’t wait to see if the results are as remarkable for Lennox Gastaut Syndrome.”

Thus far, no significant cardiac valvulopathy or pulmonary hypertension has been noted in trials for epilepsy, possibly due to the lower dosing used in these trials.

Zogenix will now focus on submitting applications for a marketing approval of its drug in the U.S. and Europe in the fourth quarter of 2018.

Greenwich Biosciences (GW Pharma) received the approval for Epidiolex, an oil-based purified cannabidiol (CBD), studied specifically in two rare epilepsy syndromes - Lennox Gastaut and Dravet Syndrome.

Cook Children’s participated in several of GW Pharmaceutical’s clinical trials of Epidiolex used to treat children over the age of 2 with Lennox Gastaut and Dravet and continues to enroll children in a trial of the drug for treatment of seizures in Tuberous Sclerosis Syndrome.

The trials were the largest of their kind in the world and have provided the gold-standard evidence needed to prove cannabidiol can be effective as a treatment for epilepsy,” said M. Scott Perry MD, Medical Director of Neurology and principle investigator for the trials performed at Cook Children’s.

The Drug Enforcement Agency (DEA) now has 90 days to schedule epidiolex and it is expected to be available to the public by fall 2018.

Dr. Perry said with the FDA’s approval there now is a standardized, reliable, safe and effective form of CBD oil available for people with epilepsy.

“It means the door is opening for more treatments from the cannabis plant, not just for epilepsy,” Dr. Perry said. “The company (GW Pharma) has shown how quality research, using cannabis can be done safely, scientifically and legally to achieve a result that will prove beneficial to many.”

Dr. Perry explains that Epidiolex is an essentially pure CBD substance produced under strict standards to ensure the drug is the same with every batch. With its approval, the drug will be obtained from a pharmacy, prescribed by a doctor and more likely to be covered by insurance.

Scott Gottlieb, M.D., Commissioner of Food and Drugs, said the FDA will continue to support rigorous scientific research on the potential medical uses of “marijuana-derived product and work with product developers who are in interested in bringing patients safe and effective, high quality products.”

"This approval serves as a reminder that advancing sound development programs that properly evaluate active ingredients contained in marijuana can lead to important medical therapies,” Dr. Gottlieb said.

Previous Articles On This Topic:

• 9 Facts about Cannabidiol (CBD) Oild and The Texas Compassionate Use Act
• Texas legalizes non-euphoric cannabdiol for seizures in epileptic patients
• Success in CBD study: Cook Children's researchers play a vital role
• Cannabis oil trial ongoing at Cook Children's
• Study: Cannabis Oil Can Dramatically Decrease Epileptic Seizures

But not everyone at the movie has had a good time.

Shortly after the initial release of the hit Disney movie, movie patrons began to speak out about several scenes in the film during which a villain uses a weapon designed to disorient people. The scenes feature a bright, flashing strobe effect, lasting for up to 90 seconds.

By Saturday, June 16, social media was lit up with movie-goers’ red flags about the long-awaited sequel. Many reviews and comments on the film consisted of alerts to those with epilepsy about the potential danger of seeing the film. These warnings include a memo from the Epilepsy Foundation of America stating:

“To avoid any serious medical incidents, the Epilepsy Foundation is requesting that Disney Pixar post a warning on all its digital properties, including relevant websites and social media channels, about what has been described as "flashing" and "strobe" lights in its "Incredibles 2" movie. There should be a warning of the potential effects on people with visual sensitive epilepsy or migraine features.”

These concerns stem from the knowledge that for a portion of people with epilepsy, photic sensitivity (a severe sensitivity to lights, especially flashing ones) can trigger seizures.

Photosensitive epilepsy is more common amongst children and adolescents, making parents even more concerned about the new summer blockbuster.

Disney released an advisory on Friday, June 15, to movie theaters asking them to post informative warnings about the film at the entrances of their establishments:

"Incredibles 2 contains a sequence of flashing lights which may affect customers who are susceptible to photosensitive epilepsy or other photo sensitivities."

Are my children at risk?

“What parents should know is that even if your child has epilepsy, not all patients with epilepsy will be photic sensitive,” said Scott Perry, M.D., medical director of Neurology at Cook Children’s.

The Epilepsy Foundation of America states that only 3 percent of patients with epilepsy will experience seizures caused by photic sensitivity.

“This is an individual issue. Just like one person might have a more severe reaction to a bee sting than another person, someone may have more of a reaction to this film,” Dr. Perry said. “Not everyone is going to experience adverse effects from this movie.”

For parents of children with epilepsy, Dr. Perry warns that “every patient with epilepsy has triggers, and they can show up in unexpected places. The best way to make sure your child is safe is to talk with your neurologist and make sure that in the case of a seizure, someone with your child knows what to do.”

- Article by Rylie Steppick

For more information on this topic:

• Treating Epilepsy
• Epilepsy Foundation Advises Viewer Caution Related to "Incredibles 2"
• Learn what triggers seizures
• Cook Children's Comprehensive Epilepsy Program
• Cook Children's Epilepsy Surgical Clinic
• Cook Children's Epilepsy Monitoring Unit

The first Texas dispensaries are now opening and selling their products to eligible patients across the state. But Texans who are interested in pursuing the so-called CBD oil treatment say there are several obstacles to getting the medicine.

There’s roughly 30 doctors across the state eligible to prescribe the medicine. Also, CBD oil is still federally illegal, so people have to pay out of pocket to secure it. And there are only three Texas dispensaries who can sell the medicine — two in Austin and one in Schulenburg.

In this video documentary, The Texas Tribune followed two families as they began their journey in pursuing medical cannabis treatment.

Full story here.

A panel convened by the FDA voted 13-0 that the agency should approve the drug as treatment of these two rare forms of epilepsy. The FDA will make a final decision to approve the medicine by June 27.

Cook Children’s participated in several of GW Pharmaceutical’s clinical trials of Epidiolex used to treat children over the age of 2 with Lennox Gastaut and Dravet and continues to enroll children in a trial of the drug for treatment of seizures in Tuberous Sclerosis Syndrome. “The trials were the largest of their kind in the world and have provided the gold-standard evidence needed to prove cannabidiol can be effective as a treatment for epilepsy,” said M. Scott Perry MD, Medical Director of Neurology and principle investigator for the trials performed at Cook Children’s.

The FDA gave the drug a favorable review, stating that it provides “substantial evidence” of the drug’s effectiveness in treating Lennox-Gastaut syndrome and Dravet syndrome.

“Although the review is still ongoing, the risk-benefit profile established by the data in the application appears to support approval of cannabidiol for the treatment of seizures associated with LGS [Lennox-Gastaut syndrome] and DS [Dravet syndrome]," the FDA said in a report.

Dr. Perry explains that Epidiolex is an essentially pure CBD substance produced under strict standards to ensure the drug is the same with every batch. Once approved, the drug would be obtained from a pharmacy, prescribed by a doctor and more likely to be covered by insurance.

“My hope is this will be the first of many drugs derived from the cannabis plant,” Dr. Perry said. “This drug has gone through a rigorous process to be approved and I think it will help people feel safe taking the medication. I hope it also encourages more research into what the hundreds of other substances in the cannabis plant can do for patients.”

Previously On This Topic:

• 9 Facts about Cannabidiol (CBD) Oil and the Texas Compassionate Use Act
• Texas legalizes non-euphoric cannabdiol for seizures in epileptic patients
• Drug in Cook Children's epilepsy trial shows positive results in separate trial
• Success in CBD study: Cook Children's researchers play a vital role
• Cannabis oil trial ongoing at Cook Children's
• Study: Cannabis Oil Can Dramatically Decrease Epileptic Seizures

What are some of the presentations of SCN2A-related disorders? Children with SCN2A can often present with epilepsy which may manifest in several levels of severity. SCN2A was first discovered as a cause of benign familial neonatal infantile seizures (BFNIS), a syndrome presenting in multiple family members with seizure onset as neonates and infants with normal developmental outcome and good seizure control. Later, SCN2A was discovered as a cause of infantile spasms and other early onset severe epilepsies of childhood, the so-called early infantile epileptic encephalopathies. SCN2A has been implicated as one of the causes of Ohtahara Syndrome, Dravet Syndrome, Migrating Partial Epilepsy of Infancy and West Syndrome amongst others. Finally, SCN2A has been found to be a major cause of intellectual disability, schizophrenia, and autism which may occur in the absence of epilepsy.

What is the cause of SCN2A-related disorders? SCN2A is a gene which encodes a sodium channel found within the initial segments of neurons. This location is important to determining whether a neuron will generate a signal or not, thus a reason mutations can present with neurological symptoms. Most mutations in SCN2A are de novo, meaning they occur spontaneously and were not inherited from the parents. This is often the case in more severe disease presentations. SCN2A may be inherited in an autosomal dominant manner in more benign presentations such as BFNIS.

How are SCN2A mutations diagnosed? Diagnosis is made using genetic testing in patients with appropriate clinical features. MRI is often normal and EEG findings may vary.

Is there a treatment for SCN2A-related disorders? Unfortunately, there is not yet a cure for SCN2A-related disorders. Certain sodium channel drugs (for example, phenytoin, lamotrigine) have demonstrated more favorable responses for seizure control in some patients, while in others sodium channel drugs may aggravate seizures. This may be due to how the mutation impacts the function of the sodium channel (gain of function versus loss of function). Aggressive control of seizures with a clear rescue plan for prolonged seizures is important. Other manifestations such as movement disorders, dysautonomia, and neurobehavioral manifestations can be managed to some degree with medications and therapy.

What other problems might be found in patients with SCN2A disorders? In addition to epilepsy and developmental delays, other manifestations of SCN2A can include movement disorders such as dystonia, abnormal gait, ADHD, autism, dysautonomia (i.e. problems with heart rate, blood pressure, and temperature regulation), and GI problems such as feeding difficulties or reflux.

For more information about SCN2A and SCN2A Awareness Day, visit www.scn2a.org.

What are some of the symptoms of SCN8A-related epilepsy? Children with SCN8A epilepsy often present early in life with developmental delays which may occur from birth or may arise shortly after seizure onset. Seizures often begin in the first 18 months of life (average 4 months) with a variety of seizures types including infantile spasms, generalized tonic-clonic, myoclonic, focal-onset, and absence seizures amongst others. Seizures are often difficult to control in 70 percent of patients. Movement disorders such as myoclonus (quick jerk-like movements), dystonia (fixed abnormal posturing of the limbs), ataxia (unsteady, incoordination), and choreoathetosis (constant, irregular, writhing movements) are also common manifestations. Mild to severe intellectual disability is common and many patients demonstrate autistic symptoms.

What is the cause of SCN8A-related epilepsy? Dr. Michael Hammer, Ph.D., first discovered the SCN8A gene as a cause of epilepsy when he was searching for the cause of his daughter Shay’s epilepsy. Shay unfortunately passed away from Sudden Unexplained Death in Epilepsy (SUDEP), but we continue to celebrate her life and raise awareness of this syndrome on her birthday (2/9) each year. To learn more about Dr. Hammer and Shay’s story, click here. 

SCN8A is a gene which encodes a sodium channel found throughout the nervous system and highly expressed in the brain. Sodium channels are in part responsible for generating the electricity of the brain. In children with mutations in SCN8A, sodium channels can open too easily or stay open too long which produced increased electricity and tendency for seizures. Mutations in SCN8A are almost always de novo, meaning they occur spontaneously and were not inherited from the parents. SCN8A mutations cause an autosomal dominant disorder, meaning only one gene mutation is required for symptoms of the disorder to arise.

How is SCN8A-related epilepsy diagnosed? Diagnosis is made using genetic testing in patients with appropriate clinical features. MRI is often normal or may show some global atrophy. EEGs often show slowing of the background rhythm with multifocal spikes.

Is there a treatment for SCN8A-related epilepsy? Unfortunately, there is not yet a cure for SCN8A-related epilepsy, however, certain sodium channel drugs (for example, carbamazepine, phenytoin, oxcarbazepine) have demonstrated more favorable responses for seizure control. Many families have reported levetiracetam to worsen seizures. Aggressive control of seizures with a clear rescue plan for prolonged seizures is important. Other manifestations such as spasticity and movement disorders can be managed to some degree with medications and therapy.

What other problems might be found in patients with SCN8A-related epilepsy? Anecdotally, patients with SCN8A mutations are often reported to have exaggerated startle response or excessive jitteriness in infancy. Some patients may have small head size (microcephaly), visual impairment, hearing impairment, and autonomic dysfunction (for example trouble maintaining temperature or steady heart rate). As more patients with SCN8A are discovered, the characteristics of the syndrome continue to evolve.

For more information about SCN8A and SCN8A Awareness Day, visit http://www.scn8aawarenessday.net/.

Diego and Tatiana Alvarez did all those things to help their son Mirko in his battle against epilepsy in a wild adventure that began a year ago in Bolivia and brought them to Cook Children's Medical Center in Fort Worth, Texas.

Mirko, now 4 years old, has since returned with his family to Bolivia. He's walking and showing amazing progress. It's hard to believe that this little boy went through so much over the course of a year, taking his family with him through a remarkable adventure.

Down a dead-end street

Life in Bolivia is judged on a different scale than how we measure success in the United States. Minimum wage is around $280 a month. You make a decent living at about $800 and anything over $1,000 is considered great.

Diego and Tatiana lived a good life in Santa Cruz, Bolivia, raising their children - Andrey, 10, Mia, 8 and Mirko. Diego helped students learn English and competed in mixed martial arts. Tatiana drew amazing sketches and her art hung in the couple's home.

For three years, Mirko kept up with other children his own age when it came to speaking, running and playing.

Then on Feb. 12, 2016, Mirko ran a very low temperature, but nothing to get too concerned over ... at least not right away. After the fever continued for a couple of days, the family made a doctor's appointment.

The evening prior to the appointment, Diego was in the gym training for his next fight. He put his phone away, but as he was warming up he noticed it was blinking and he felt that something was going on before he picked up the phone. When he answered, he heard his mom hysterically screaming and shouting.

"Something has happened to Mirko," she said. "He's convulsing."

Diego grabbed his stuff and ran to his car. His wife called shortly after. "Mirko's dying," Tatiana cried.

Tatiana held Mirko and stepped outside their home screaming for help, Andrey ran to a neighbor's house to a neighbor, who rushed Tatiana, Mirko and his siblings to the hospital. Diego drove from training to the hospital to meet his family. The convulsions continued all over the little boy's body and his eyes rolled back in his head. The doctor on duty asked Diego to step outside.

"We are a small hospital. We can't take care of him," the doctor said. "You need to take him to a big hospital."

Then the doctor surprised Diego with a question. "Do you have a car?" The doctor explained the ambulance at the hospital wasn't dependable and a newer car would get Mirko to the hospital faster.

Diego, his sister, Mirko, with an IV in his arm, and the doctor piled into the sports car and took off like they were being chased in an action movie.

"Thank God I drove a fast car," Diego said.

The family raced through Bolivia, pounding the horn, screaming at people to get out of the way while running red lights. At one point, a traffic jam stopped the car and the doctor told Diego he had to find a way to get Mirko to the hospital because the little boy only had a few minutes left to live.

"It was terrifying," Diego said. "I was moving on instinct and desperation."

Diego remembered that another hospital was only three blocks away from where they were stopped. He hopped his car on the sidewalk, yelling at people to move. They made it to the bigger hospital's ER. The convulsions lasted for more than 40 minutes. But doctors were able get Mirko stabilized.

Treated Like a Refrigerator

Mirko always had been a daddy's boy. They share a special bond that began at birth. Diego stayed next to his sleeping son, scared of what would happen if he closed his eyes.

"I didn't even know what a seizure was until this happened to Mirko," Diego said.

Mirko woke up at the hospital and smiled at Diego like it was any other day and even asked, "Why are we here?" But any sign of relief vanished as Mirko's eyelids began to twitch again.

Mirko received thorough testing - an MRI and an EEG. The next day, Diego and Tatiana met with a neurologist at the hospital in Bolivia.

"She treated our son like a refrigerator. She was very cold," Diego said. "She said, 'Your son has epilepsy. Give him this medication. I'll see you in three months.' We had so many questions. 'What can he eat?' 'What can he drink?' 'What happens the next time he has a seizure?' 'Will he have a normal life?' 'But we never got the chance to ask anything."

White Spots on the Brain

The MRI scan of Mirko came back, showing "white spots on his brain." A neurologist told Diego that his son could have leukodystrophy, which shows up in the white matter of the brain on scans. Diego looked up the disorder online and his heart plummeted into his stomach. If he had leukodystrophy, Mirko possibly faced loss of motor function, muscle rigidity, the loss of sight and hearing and eventually death."

"I cried a lot," Diego remembers. "It's the worst you could hear about your son. He's going to die. I was never an alcoholic. I never did drugs. I didn't smoke. Neither did my wife. We lived such healthy lives. But we couldn't help but wonder if it was somehow our fault."

Fortunately, Mirko's parents wanted a second opinion. They found a neurologist who told them their son didn't have the fatal disorder. The white spots were likely a result of the MRI machine being so old at the previous hospital.

While that news was good, it only proved what Diego and Tatiana already knew. They weren't getting the best care possible. They would have to go elsewhere to find any hope for Mirko.

A Game of Chance

Their new neurologist told Diego and Tatiana their son wasn't going to die, but he needed surgery to control his epilepsy. Mirko needed surgery to remove the portion of the brain causing the seizures and he needed it fast.

Mirko's seizures came often - 20, 40, 60 seizures or more a day. He lost his quality of life and their happy little boy was losing himself to epilepsy.

"I was tortured," Tatiana said. "I would count the seizures every day. The amazing thing was after every seizure, Mirko would still smile. I read a Facebook post by a dad who said to count the smiles and not the seizures. That changed everything for me. I now saw more smiles than seizures."

Diego and Tatiana were desperate to find help for their son.

Diego's father, Javier, told his son they would find the best place in the world for their son. Somehow, they would find the money to make this miracle happen.

Mirko's parents searched online and researched to find the right hospital for their little boy. They found hospitals in Chile, Brazil, Miami, New York and Houston. They narrowed their focus to a children's hospital in Miami. The soonest they could see him was three months.

But as Diego frequently says, "God has his ways."

During the turmoil of trying to find a place to help his grandson, Javier went to play billiards with friends to distract him from the real world for a little while.

A friend could see something was bothering him and asked what was wrong. When Javier told the man Mirko's story, the friend told him about his niece's child who had a serious neurological disorder. He described to Javier about a place in Fort Worth, Texas called Cook Children's. After being seen at Cook Children's, the family had actually moved to Fort Worth to be near the doctors. That's how much the place had meant to them.

"He told my dad that lady had been all over the world. All the same places we'd been looking at too. But the woman said she couldn't find any treatment for her son until they came to Cook Children's," Diego said.

That evening, Javier talked to his friend's niece about Cook Children's. The following day Javier connected Diego with the woman and they spoke for more than two hours.

"She really convinced me," Diego said. "I felt it. I felt this was the place. We had to get to Fort Worth."

Diego called Cook Children's and was connected to Yadira Nunez, International Business Development liaison. He told her his story and that a neurologist at Cook Children's, had taken care of a family friend's son. Nunez was in Mexico for a conference with a neurologist and put Diego on the phone with the doctor.

Within a matter of hours, Diego and Tatiana booked an appointment that would have them arriving in Fort Worth in less than two weeks.

Sell Everything

With an appointment made, the Alvarez family now had to pay for their trip. Javier bought the plane tickets for Mirko and his parents. The need for money called for drastic steps. On Dec. 5, 2016, Diego spent his birthday selling nearly everything he owned to provide care for his son; and the rest of the family also sacrificed their belongings.

"Thank God Diego's father was there to help and made everything possible," Tatiana said. "Diego always says, 'My dad is our guardian angel.'"

Diego, Tatiana and Mirko arrived in Fort Worth on Dec. 6, 2016. They spent Tatiana's birthday, Mirko's birthday, Christmas and New Year's Day at Cook Children's - all away from their two other children.

Their older son and daughter were heavily impacted by Mirko's condition. Not only were they away from their parents for more than six months, but they had to withdraw from private school.

"Private schools are so important in Bolivia," Diego said. "Public schools there aren't good. You can't get the same education, plus they are insecure. There are kidnappings at the other schools."

Diego's mom went with her grandchildren to the school and stayed there until the end of the day so the kids wouldn't be left alone.

Dump Truck

At Cook Children's, the Comprehensive Epilepsy Team took over the day-to-day care of Mirko as he was admitted to the Epilepsy Monitoring Unit once he arrived. Within 11 hours, he experienced 40 seizures.

"We evaluated Mirko and struggled a bit with the actual reason for his epilepsy, but ultimately decided a large resection of his frontal lobe would be the best answer to help him without hurting him," said Scott Perry, M.D. medical director of Neurology. "We also knew this initial resection may not be adequate, but wanted to try to preserve as much of his brain as we could."

On Feb. 2, 2017, David Donahue, M.D., a neurosurgeon at Cook Children's, performed the surgery on Mirko to remove his left frontal lobe. While the Diego and Tatiana found previous doctors cold, they found themselves being listened to and informed at Cook Children's. Both Diego and Tatiana refer to Dr. Donahue as the "sweetest."

Following surgery, doctors prepared Diego and Tatiana for the possibility that their son may not speak because speech was in the area removed. But when he came out of anesthesia, Mirko looked at his parents and said two simple words typical of many little boys.

"Dump truck."

It's believed that the brain, being the amazing organ that it is, already was using the healthier parts on the opposite side to shift his speech. The other fear was that Mirko would be paralyzed on his right side. But soon after surgery, they noticed while sleeping Mirko moved his right arm and leg.

Diego and Tatiana hoped that the surgery would end Mirko's seizures. While they weren't every day, Mirko still had seizures, although not the severe ones that had been so devastating. The neurological team held out hope that the surgery would eventually end the seizures altogether.

And Diego and Tatiana waited for things to return to how they used to be.

You Can't Go Home ... Yet

Following the initial surgery, Diego, Tatiana and Mirko planned to go home to Bolivia. They had received help and Mirko's seizures weren't as severe and easier to control.

But that wasn't good enough for the Epilepsy Team.

The team knew that the same quality of health care wouldn't be waiting for Mirko in Bolivia and he wasn't responding well enough to medications to control his seizures. They felt it was it was in Mirko's best interest to have one more surgery.

"It was difficult to tell Mirko's family that another major surgery was needed. But we felt under the circumstances, a second surgery was required to establish a better quality of life for Mirko once he returned home," Dr. Perry said. "It was really his only hope at that point."

While the first surgery removed Mirko's left frontal lobe, a few weeks later the second surgery disconnected the entire left hemisphere from the right side of his brain.

After the surgery was performed Mirko developed a blood clot in his brain and the family stayed in Texas for two more months to treat it. Mirko required six blood thinner shots a day for those two months and took them "like a warrior he is." After the blood clot was gone, it was finally time to return home. Mirko and his parents arrived in Santa Cruz, Bolivia on May 26, 2017, just one day before Mother's Day. They celebrated the holiday and Mirko's health six months after their adventure began in Texas.

The surgery and treatment was a success. Mirko is now seizure-free. His mental faculties are intact and he is able to speak. Physical therapy helped Mirko regain the right side of his body and he is now able to walk.

"We used to have a normal life," Tatiana said. "We would go to the cinema. To the mall. We had a normal family. A year later, everything changed because of epilepsy. We have a normal life again now. We are just so thankful to God for Cook Children's and everything they have done for us. We really are."

After all, what's a great adventure without a happy ending.

Celebrating Cook Children's Centennial

Cook Children's is turning 100 and will be celebrating all year! Don't miss out on the fun throughout 2018. Enjoy unique stories, parades, special guests, and community events across Fort Worth. We hope that you can share in some our celebrations because you're the 1 in our 100!

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Compassionate Cultivation will be the first of the three licensed dispensaries to open in the state, but will be followed, in theory, by the other two companies that received licenses last year under the Texas Compassionate Use Act, which was passed in 2015.

Watch the story here. 

The bill required DPS to license at least three dispensing organizations by Sept. 1, 2017, should they meet requirements.

On Feb. 8, 2018, the first medical dispensary in the state of Texas will open.

What does all of this mean for children with epilepsy?

1. What is it in the cannabis plant that helps treat epilepsy?

The truth is we don’t yet really know. There are over 500 chemical compounds in the cannabis plant and over 100 of them are plant-based cannabinoids (phytocannabinoids) which may interact with the endocannabinoid system of the human body and treat disease. Cannabidiol (CBD) is a non-psychoactive component (i.e. does not produce a “high” feeling) and has been most widely studied so far for epilepsy. It does not interact with either of the two known cannabinoid receptors in the brain and its mechanism is still unclear. Tetrahydrocannabidiol (THC) is the component in the plant that produces a high and does interact with the cannabinoid receptors, but for many reasons, is not likely to be a good choice as an antiepileptic compound.

2. What is CBD oil and what types of CBD oil are now legal in Texas?

A CBD oil is an oil made from a cannabis plant that is high in CBD and typically lower in THC. The oil may contain amounts of multiple other compounds found in the plant as well. The 2015 Texas Compassionate Use Act allows for “high” CBD (more than 10 percent by weight)/”low” THC ( less than 0.5 percent by weight). This is slightly higher than the amount of THC (less than 0.3 percent) allowed in a plant to be considered hemp. Hemp oils are produced from these lower THC plants and are often a poor source of CBD but have been legal and widely available.

3. People on the Internet already say CBD oil works, so why aren’t all doctors OK with using it over typical medications prescribed for seizures?

All FDA approved antiepileptic medications have gone through rigorous studies to prove they work and they are safe to use. The studies are blinded and placebo-controlled which means neither the doctor nor the patient knows whether they are getting the real drug or a placebo until the study is complete. This helps remove bias (i.e. people feeling like their seizures are better because they know they are taking the real drug). It also helps separate which side effects are due to the drug and which occur randomly in the course of life (for example fevers, rash, nausea which can occur commonly regardless). CBD has only recently been tested in this type of rigorous study – more on this later – and the other components of the plant lack this type of research so far.

4. If CBD has already been studied, why are some doctors still hesitant to recommend CBD oil?

When people are treated with typical antiepileptic drugs, they are taking a single compound, like carbamazepine or levetiracetam for example. When you get a CBD oil, you get a substance that may have a high amount of CBD, but it also can contain varied amounts of the multiple other compounds from the plant. We do not know how effective and safe those other compounds are, so we must be cautious to recommend it to treat your child. Currently, there are no testing standards to make sure the CBD oil you get from a company contains what the label says, thus the formulation may change some from month to month – something akin to getting a different generic antiepileptic medication each month. While all CBD oils contain the similar CBD compound, they may be produced from different types of plant, using different growing techniques/conditions, and manufactured with different processes – thus creating different medications with different other compounds included. Think of it as being prescribed a sodium-channel drug like carbamazepine, but potentially getting one of multiple other sodium channel drugs such as oxcarbazepine, phenytoin, rufinamide, lamotrigine, etc. So doctors aren’t necessarily averse to CBD oils, we just have to be realistic about their limitations.

5.What did the studies of CBD show?

First, understand that the Greenwich Biosciences CBD compound Epidiolex is not the same as the CBD oil you get from a dispensary. It is a nearly pure CBD substance produced under strict standards to ensure the drug is the same with every batch. In 120 patients with Dravet syndrome, 43 percent on CBD had more than 50 percent reduction of convulsive seizures versus 27 percent on placebo. This was actually not a statistically significant difference. In 171 patients with Lennox-Gastaut syndrome, 44 percent on CBD had more than 50 percent reduction of drop seizures versus 23.5 percent on placebo and this was significant. From these results we can conclude that CBD does appear to have some antiseizure effect, but it is not necessarily any better than most other available drugs. It is also not without side effect, as diarrhea (19%), sleepiness (15%), fever (13%), decreased appetite (13%), and vomiting (11%) were reported. So CBD is an option for epilepsy treatment, but is not likely to cure every patient.

6. How does the Texas Compassionate Use Act work?

Under this law, doctors can register to recommend CBD oils only to patients with intractable epilepsy. To register, a doctor must be board certified in Neurology or Child Neurology and must also be certified in Epilepsy/Neurophysiology or spend more than 50 percent of their practice treating patients with epilepsy. If a registered doctor feels CBD oil is appropriate for their patient because the patient has tried all reasonable, better-studied and available treatment alternatives, the doctor can recommend an amount of CBD to be taken. This recommendation must be approved by a second registered doctor who reviews the case and agrees with the decision. Registered patients can then go to one of three dispensaries in the state to get a CBD oil.

7 .Will the CBD oil be covered by insurance?

No. As this is not an FDA approved treatment, it is unlikely any insurance company will cover the cost. The price is typically several hundred dollars per month depending on the amount of CBD recommended.

8. Now that we have this law, it is legal right?

The cannabis plant and all the components of the plant remain a schedule 1 substance on the Drug Enforcement Agency’s list- meaning it has no medicinal value and is illegal. CBD is part of the plant and still falls under this category for federal law despite what a state law may say. While the 2013 directive from the Department of Justice indicated they had better things to do than prosecute people following the laws of their state, Jeff Sessions reversed this opinion several weeks ago – thus it is unclear how the federal government will choose to deal with CBD oils now.

9. When will a pharmaceutical grade CBD oil be available?

Greenwich Biosciences has submitted their drug, Epidiolex, to the FDA for approval December 2017. While the FDA could take years to rule, they have indicated their plan is to rule on approval by summer 2018. Once approved, this drug would be obtained from a pharmacy, prescribed by a doctor, and more likely to be covered by insurance.

Previously on this topic:

• Texas legalizes non-euphoric cannabdiol for seizures in epileptic patients
• Drug in Cook Children's epilepsy trial shows positive results in separate trial
• Success in CBD study: Cook Children's researchers play a vital role
• Cannabis oil trial ongoing at Cook Children's
• Study: Cannabis Oil Can Dramatically Decrease Epileptic Seizures