The highly anticipated Jane and John Justin Institute for Mind Health will open its doors at Cook Children’s this month. The Institute brings together nine specialties that treat disorders of the nervous system, allowing kids with neurological conditions to receive the holistic care they need under one roof.  

“The concept behind the institute is that these nine specialties share not only a lot of patients, but the same working system in the care that we provide,” says the head of the Justin Institute, Scott Perry, MD. “We want to improve the patient experience and outcome by making sure we're collaborating in the care of every patient, every day, at all times.” 

The Neuro Art Collection

To prepare for the arrival of patients and their families, Dr. Perry curated a collection of awe-inspiring artwork that combines creativity with elements of neuroscience. 

“I love art very much, and it’s a great way to connect with kids,” he said.

Every artist involved in the neuro art collection has some connection to neuroscience — some are PhD neuroscientists themselves and others have disorders of the nervous system. 

“A lot of people think neuroscience and the brain are super complex,” Dr. Perry said. “We hope this art draws people in to learn a little bit more about it.” Each artwork will have a corresponding QR code that links to information about the artist, how the piece was made, and how it’s connected to neuroscience.

Featured Artists and Artworks

The very first piece in the neuro art collection was created by embroidery artist, Laura Bundeson. Dr. Perry asked her to make a custom piece out of Epilepsy Awareness T-shirts he had designed over the years, and she stitched them together into the shape of a brain. Dr. Perry also worked with Bundeson to create a custom brain pin for all Justin Institute employees to wear.  

Michele Banks, a Washington D.C.-based artist, painted watercolor brains for the collection. She infused each work with calming, nature-related designs, including rivers, trees, fields, and oceans.   

Glass artist and retired oncologist, Reneé Tegeler, created four vibrant fused glass brains. Each piece represents one of the institute’s main groups—neuroscience, child study, psychology, and psychiatry.  

Developmental neurobiologist and woodworker, Louis-Jan Pilaz, contributed several wooden animals made up of different types of brain cells.  

“We presented him with the idea of making animals out of neurons to relate to the kids we take care of, and he took it and ran with it,” Dr. Perry said.

The Institute will also feature a nine-by-fifteen foot mural by blind painter, John Bramblitt. 

“I can’t wait to see the final product because I asked him to hide things in the picture for kids to find,” Dr. Perry said. The mural will also pay homage to the recently retired founding members of the Cook Children’s neurology and neurosurgery departments. 

A Comfortable Space for Patients and Families

“When we thought about creating this space, we thought about the kinds of children that are going to be seen here,” Dr. Perry said. “Kids with behavioral developmental disorders — things like autism — and we thought, what can we do to make it a comfortable environment for them without too much sensory overload?”

Every detail of the Justin Institute has been carefully chosen to create a stimulating, yet soothing space for kids with neurological conditions and their families. Whether it’s searching for a clue on a mural or trying to guess what kind of cells a wooden animal is made of, the Institute will offer limitless ways for patients to engage with art and science in new and exciting ways.

Related Articles: 

• It's a Colorful Life: Mural at Justin Institute Created by World-Renowned Painter who is Blind
• New Institute Connects the Dots Between 9 Medical Specialties Under One Roof

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.”

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!

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

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.

Scott Perry, M.D., the Director of Neurology at Cook Children’s, has participated in multiple international studies, examining the effectiveness and safety of a nearly-pure CBD oil for treating patients with epilepsy. While the internet is full of testimonials for the effective use of CBD for other conditions, epilepsy remains one of the only disorders with strong data to support the benefit of CBD for medical treatment. He points out that lack of data does not mean CBD cannot be effective in other conditions, it simply means the research is not there yet to tell us how effective the drug may be, what doses might be needed, how it interacts with other drugs used in the condition, the safety of the drug used in specific patients, etc.

So as a scientist and physician, it’s difficult to blame him for being a little concerned at the number of medicinal CBD oil stores popping up around the area.

Dr. Perry has seen success in treating children with severe forms of epilepsy during the clinical trials he has overseen. But as far as day-to-day use such as treating anxiety or chronic pain, he says not enough research has been performed. He’s especially concerned about the use of CBD in children for common ailments and he says more and more Cook Children’s pediatricians are being asked about its use daily.

The trials Dr. Perry conducted used a form of CBD oil produced under strict guidelines to ensure the purity of the product – no different from how any FDA-approved pharmaceutical would be produced. The studies were rigorously designed to provide the data necessary to show the drug works and is 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 during the study. This helps remove bias (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).

While the studies showed CBD helped reduce seizures, the number of patients who became seizure free was small. Likewise, the drug was well tolerated, but not without side effects. In fact, the studies revealed that some patients taking CBD oil could get significant elevation of their liver enzymes which needs to be monitored. Without these studies, commenting on the safety and effectiveness of CBD for epilepsy would largely be a guessing game. The same now holds true for other conditions – recommending CBD oils for other ailments is still largely a guessing game, based on small reports or testimonials, but without the support needed to make an informed medical decision.

Dr. Perry points out that it is important to understand the CBD oil tested in these studies is but one version of CBD oil and the data cannot be applied to every other CBD oil. There are thousands of CBD oils being sold these days and all may be made in different ways, contain various amounts of CBD, have varied levels of purity, and may contain substances other than CBD where the safety and efficacy is even more unknown.

“When you walk into a CBD store, you don’t know exactly what you’re getting because it’s not regulated or monitored,” Dr. Perry said “I worry they haven’t been studied or proven effective, certainly not in most pediatric cases, for use. Many of the conditions that CBD is being used for have subjective symptoms, so assessing response is very difficult. Even when a store provides a lab analysis of the CBD oil they provide you, there is no regulation or true oversight to ensure the report is accurate. This is not to say that CBD retailers are trying to make a quick buck, it just means there are shortcomings to the products that must be taken into account.”

When people are treated with typical antiepileptic drugs, they are taking a single compound, like carbamazepine or levetiracetam for example. But when you get a CBD oil in a store, 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 don’t know how effective and safe those other compounds are, so we must be cautious to recommend it to treat a child,” Dr. Perry said “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.”

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, creating different medications with different other compounds included.

Dr. Perry said it’s not that doctors are necessarily against using CBD oils, “we just have to be realistic about their limitations.”

Another concern is that many children for whom CBD oil might be tried are on other medications and “we don’t know enough to know how it might interact with those medicines or oils.”

“Cannabis and CBD have a long history of use for medical purposes,” Dr. Perry said. “But until recently, standardized studies gathering large amounts of data have been lacking. Now, with the change in social climate and attitude toward the potential of cannabis and CBD, we are gaining that data in the practical use of CBD in patients with seizures and epilepsy. But as far as general use in conditions such as anxiety or insomnia, I don’t believe we have enough research yet. Without more research and actual studies, we don’t know proper doses or side effects.”

For now if you are thinking about using CBD or allowing your child to use it, Dr. Perry asks parents to please talk to their pediatrician first.

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.

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 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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"Older kids are the worst. They are invincible when they are teenagers and now we are telling them they're not," Dr. Perry said. "They are driving and now we are telling them they can't drive until they get their seizures under control. That's a big deal and hard for them to accept."

Living with epilepsy as a teenager presents unique challenges the caregiver. They are just starting to become independent and all the sudden their parents are watching them constantly and reminding them to take their medicines everyday. While their parents are just protecting their kids, the teenager feels like they’re being treated like a kid again.

In addition, as many as two-thirds of children with epilepsy have some type of measurable learning problem. Their seizures may cause short-term memory problems and anti-epileptic drugs may cause drowsiness, inattention, concentration difficulties and behavior changes which impact the ability to learn. These can present additional struggles making a diagnosis of epilepsy in adolescence life-changing.

Many teens talk about social isolation, stigma and fear because of their disorder.

In a survey of 20,000 teens:

• More than 50 percent had never heard or read about epilepsy.
• Thirty-seven percent said teens with epilepsy or more likely to get picked on.
• More than 50 percent said they would not, or were not sure, if they would date a person with epilepsy.
• Nineteen percent thought that epilepsy was a form of mental illness
• Fifty-two percent thought that people often die from seizures.

Social media has not helped with the stigmas young people with epilepsy face. It can reinforce the negative attitudes and misinformation about the disorder.

A survey of epilepsy related Twitter posts found that 41 percent were derogatory and one-third of YouTube videos labeled as seizures/epilepsy were definitely seizures, while the others were clearly nonepileptic or indeterminate events.

"People still think you can catch epilepsy," Dr. Perry said. "One in 26 people in the world could have epilepsy. So chances are there's a lot of people walking around you with epilepsy and you might not even know because they don't want to tell you because of all the stigmas. The only way to change that is to talk about it and raise awareness.”

Dr. Perry suggests parents take the time to talk to their children about epilepsy. Explain to them that children with epilepsy shouldn't be defined by their disease and should never be bullied.

Parents who have a child with epilepsy should talk to their caregivers and support groups such as the Epilepsy Foundation to educate the child's teachers and in the process the students at the school on what it means to live with epilepsy.

What Is Dravet Syndrome?

Dravet Syndrome is a rare genetic epilepsy (1 in 25000) that begins in the first year of life with seizures in the setting of fever. Unlike typical febrile seizures, children with Dravet syndrome often seize every single time they have fevers.

They may also seize when they have mild elevations of temperature, for instance, after taking a hot bath or after being outside on a hot day. They are normal developing and healthy in that first year of life, despite the fact they have frequent febrile seizures. These seizures can be very long lasting, 30 minutes or longer.

Their initial seizures are often characterized as hemiclonic seizures, so they’ll be seizing on the right side of the body at one time and the next time they come in, it’s predominately on the left side. After the age of 1, they begin to have seizures in the absence of fever. They have multiple seizure types at that point including absence, generalized tonic clonic seizures, atonic seizures and tonic seizures. The seizure frequency often increases, their EEGs become progressively abnormal and the children themselves can have a stagnation in their development or even a decline in development as the epilepsy progresses.

In the first 10 years of life or so, seizures can be quite frequent and very difficult to control. Generally after that time the seizures slow down, but will still occur throughout life.

What are the current treatment options of Dravet?

The mainstays of treatment of Dravet syndrome are medications. The first being valproic acid (Depakote), another clobazam (Onfi), and another one called stiripentol. Beyond those three primary medicines, there are other medications that can be used with variable success in addition to dietary therapy and recently, medical cannabis or cannabidiol, has shown some promise.

Importantly, there are medications that are used to treat epilepsy that should not be used to treat children with Dravet syndrome. Those are medications that work on the sodium channels. Because the syndrome is a disorder of sodium channels, using medications that work on sodium channels actually makes these kids much much worse. Carbamazepine, Oxcarbazepine, and Lamotrigine are a few of the medicines that work on sodium channels that should be avoided in children with Dravet syndrome.

Does that happen often? That people put these kids on those medications?

Unfortunately, yes. Because those medications are typically used for focal onset seizures and when these kids first present they are having focal seizures people treating them logically say, "Well let’s put them on oxcarbazepine." When these kids get worse the next logical reaction to that is that they say, “Oh they are worse. Let’s give them some more. They must not have enough.” Then they get even worse. That’s actually one way that some of these kids get diagnosed. People recognize that these sodium channel drugs made them much worse, so maybe they have a sodium channel disorder.

I have been guilty of making this mistake. So even in my immense knowledge of this disorder, I have made this mistake.

What impact does Dravet have on the entire family?

It’s interesting that you bring that up because we actually did a project with the University of Washington in Seattle about caregiver burden of caring for Dravet Syndrome. We developed a scale that they are in the process of standardizing for clinical use. These families have difficulties caring for their other children because they can’t spend as much time on the activities of the other kids because they spend so much time focusing on the health care and safety of their kid with Dravet syndrome. Jobs, it’s difficult for both families members to hold down a job because somebody usually has to stay with the child. I imagine it’s difficult for the parents themselves to get much time with each other because one is probably up most of the night worrying about their child, while the other one is up most of the day. The amount of time lost from work and other obligations, community obligations, etc. caring for the child is pretty significant.

And it impacts the siblings too, right?

Exactly. They may not get to do all the things that they want to do. Or if they do get to do those things, if they do want to play baseball, maybe the family can’t take them to baseball all the time. So it’s your neighbors taking them. The parents can’t be there because they are at the doctor or the hospital.

What are some of the advancements that have happened in the care of patients with Dravet and what do you see for them in the future?

Dravet represents one of the best understood epilepsies since we know the genetic mutation that is the cause of the epilepsy. So that’s a really important thing. Understanding that has allowed us now to understand more about why it happens and hopefully get to a point where we understand how to treat it. People with other epilepsies or other genetic epilepsies should appreciate and support research that goes into Dravet syndrome because if you can figure out the genetic cause of one and figure out how to fix it, there’s a decent chance we might apply the same thoughts to other things and figure out how to cure other epilepsies down the road.

As far as big things that are going to come in the Dravet world … One thing is that pharmaceutical companies have increasingly recognized the importance of this syndrome, which is why you have multiple new pharmaceuticals being evaluated. Cannabidiol one. Fenfluramine, the other. Both trials we’re doing here. Some drugs being used in other syndromes are also being considered. The drug being used in muscular dystrophy that skips over the abnormality in the gene that causes the disorder to help make a more normal gene, they are looking at applying the same kinds of ideas in Dravet syndrome. If you could somehow skip over the abnormality in the SCN1A gene and make a more functional protein, might we be able to improve the disorder? Maybe? So those are some of the exciting things.

Several new drugs are probably going to be investigated in the future. They've got animal models that they can test drugs on to see which ones might be favorable and investigate it more. I mean who would have ever thought to look at fenfluramine. It was just part of a diet pill in the past. Somebody was smart enough to think, "Well maybe half that drug might be worth something. Let's go look at it." It appears to be very effective. At least in the open trials they've done.

What made you interested in Dravet Syndrome?

Really it was in training, in my residency ... I've always been fascinated with epilepsy and fascinated by the story of epilepsy. I've always been fascinated by the idea that the longer epilepsy goes on the more likely the story might actually be told. Which is why I always harp with my students that when you have a patient with intractable epilepsy, if you do not understand what's going on, you should always start from the beginning and work your way to the present because you might find a pattern and see the story as it's told over and over and over again.

Dravet is one of those things that tells a story over time. So in the beginning when it's just febrile seizures people might not quite put it together. But you take febrile seizures and then the types and how long they are and then put that you've got these new types of seizures. Now you've got developmental delay and EEG abnormalities, over time the story becomes clear.

I found so many cases of Dravet when I was in training in kids that were diagnosed with other things. There was a kid I remember when I was in training that was about to get epilepsy surgery, and this has actually happened multiple times since then, where I've seen people who were in the process of getting evaluated for epilepsy surgery and doctors are going over their history and trying to figure out if the patient was a surgical candidate. This kid sounds like he has Dravet syndrome. They are 14 or 15 years old and their family is wanting to do a surgery and then we find out, no they've got this underlying genetic epilepsy that is not surgically treatable. It's an important thing to figure out.

So over time I have encountered more and more kids with Dravet syndrome. We probably see somewhere between 40 and 50 patients. The longest distance someone came to see me was from Florida. There are a couple of spots in the US where Dravet syndrome is frequently treated and these typically develop from a doctor interested in the syndrome and word of mouth from the Dravet community. It's a very connected community. A group finds a doctor they like who understands what's going on, they share that with everybody and they end up all trying to go to the same place. It makes for a better clinic and better care when we can have that connection with our patients and they are connected with each other.

For more information:

• Jane and John Justin Neurosciences Center
• Dravet Syndrome treated at Cook Children's
• Cook Children's Comprehensive Epilepsy Program
• Contacts and Locations

Then her diagnosis of epilepsy at 7 years old changed this “big character” into a shy little girl, afraid of what people would think if she had a seizure in front of them. When she attempted to return to the porch and entertain her cousins, she had a seizure. They thought she was joking and they all laughed.

“I'm just really a friendly person and I love people,” Bonita said. “I feel like a piece of that was taken away because of my epilepsy.”

Now this 36-year-old mother of four refuses to let the disease that defined her for so long do the same for her 10-year-old daughter Francesca.

“Francesca is so vibrant and full of life. I don’t want her to ever lose that and I never want her to feel the way I did,” Bonita said.

Bonita and her husband, Charles, were concerned about the risk of epilepsy for their two older children Jace, now 15, and Trace,13. But with vibrant and healthy boys, the threat of epilepsy was “off our radar” by the time Francesca was born.

When she was 4 years old, preschool teachers told Charles and Bonita that Francesca threw up a few times during nap time. They didn’t mention anything about convulsions during sleep. But when one of the teachers said Francesca wasn’t making eye contact with them after the nap, Bonita’s intuition told her it was epilepsy.

“In my heart of hearts I knew and I didn't want that for my daughter,” Bonita said. “My husband was not really accepting of that idea. He tried to reassure me, ‘It doesn't have to be that. She might just have a stomach ache or a virus.’ I just felt it.”

The family was referred to a neurologist for a sleep study in their then home of San Antonio and within minutes, they saw Francesca’s arm twitch. It affirmed to Bonita what the EEG would eventually show – Francesca did have epilepsy.

Bonita gave into a short period of beating herself up. After all, she of all people should have recognized the signs of epilepsy she thought.

But the self-pity didn’t last long. Instead, Bonita developed a new resolve. She wouldn’t let her daughter fall into the same trap that she did as a child following her diagnosis. She would become an advocate for her daughter.

“There was a fire lit inside of me that had been missing for a long time because it's totally different watching your child go through this than when it’s yourself going through it,” Bonita said. “The comfort I took as a child was at least I didn’t remember the seizures after they happened. Even though people would tell me, I could get past it eventually. But this is different, seeing it and then it being your child. The time I’m waiting for her to breathe and take that breath … Just for the seizures to stop … it seems like an eternity.”

Following Charles getting his law degree, the Ocampo family returned back to their hometown of Fort Worth. Francesca began seeing Scott Perry, M.D., an epileptologist and medical director of the John and Jane Justin Neurosciences Center at Cook Children’s.

Dr. Perry upped Francesca’s dosage of medicine and has been her doctor since 2013. And Francesca tells her mom all the time how funny he is.

Laughter comes easier to the Ocampo family now. Francesca is the proud older sister of Beau, 3 years old, and is doing well with her epilepsy.

“Francesca’s outlook on life is exactly what we all want for our patients. She won’t let her epilepsy define her, she takes care of herself and she enjoys just being a kid,” Dr. Perry said. “As neurologists, it is our job to help patients and their families get their lives back.”

“The things I have dealt with in my life and even in my adulthood because of epilepsy have been difficult, including depression and anxiety.” Bonita said. “What’s changed my outlook on my own epilepsy is wanting to be an example of life and not an example of fear for Francesca. But because of the way she lives her life, Francesca has inspired me.”

Francesca describes herself as “just a big fireball” who refuses to let her condition get her down. She’s began the Fort Worth Academy of Fine Arts this year and plans to use November, Epilepsy Awareness Month, as an opportunity to explain to her new classmates about living with epilepsy.

“It’s not that I don’t care that I have epilepsy,” Francesca said. “I just feel I’m a normal person like everybody else. I take meds and I have to go to the doctor sometimes and get checkups. What’s happening in here, in my brain, is not epilepsy. It’s just my normal brain. There are just some tweaks to it that makes it kind of weird. I don’t have anxiety at all. The only time I get a little sad is maybe when I have seizure. I’m usually always fine.”

Someday, Francesca wants to sing and be in musicals. But it’s her bold outlook on life that’s helped her mom change the role she’s played since a child from being “scared of my life to stepping out” in the forefront.

Francesca asked Bonita to join her in the pool last year. Bonita told her she’d never learned to swim because she was afraid she would have a seizure in the pool and people would see her. Francesca told her mom not to be afraid and she would teach her how to swim. A year later, Bonita is a swimmer.

Bonita’s drive now is to raise awareness for epilepsy. She wrote a letter to the city of Fort Worth earlier this year that culminated with a proclamation for the local Epilepsy Foundation. She researched to contact the right person at Sundance Square to get the city to go purple for Epilepsy Awareness Month in November and reached out to Cook Children’s to do the same.

“I was so proud of the Ocampo family for helping raise epilepsy awareness and I’m equally proud of the medical center for supporting their efforts,” Dr. Perry said. “Sure, our primary goal as physicians is always to help patients become seizure free, but even more important than that is making sure their quality of life is the best it can be. Part of that goal is making sure everyone is educated about epilepsy, so that fears and misconceptions about the disorder are erased.”

And Bonita plans for this to be only the beginning as she wants people to know what life is like for people living with epilepsy.

All of this because a daughter’s condition has given her mom a new outlook on life that she thought had been lost on her grandmother’s porch nearly 30 years ago.

“Francesca is everything, the very embodiment, I wished I could have been,” Bonita said. “It’s not a vicarious, living through my daughter type of thing. I just don’t want that wonderful sense of fun to fade away in her. Francesca has helped me so much. That’s the cool thing about us. By me not wanting her to ever get to that point of fear and anxiety while wanting to be more of an example to her, I have been put in a position where I have to step outside what I was. Where I did feel like it defined me. I don’t feel that way any longer. This is now just who we are. This is us.”

Cook Children's Epilepsy Program

If you have a child with epilepsy, you're not alone — 2.5 million Americans have this disorder. 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.Click here to learn more. If you would like to help, please visit our giving page. 

When you get past the years of hard work, science and sacrifice of the families involved, the largest study in the world of cannabidiol (CBD) comes down to that one word.

Cook Children's participated in GW Pharmaceuticals latest Phase 3 clinical trial for Epidiolex, a cannabidiol-based oil used to treat children with Lennox Gastaut syndrome, a rare form of childhood epilepsy.

GW Pharmaceuticals announced positive results for the completed study of adjunctive Epidiolex (cannabidiol) in the treatment of drop seizures in patients with Lennox Gastaut syndrome (LGS, GWEP1414).

Patients taking 20mg of Epidiolex saw seizures drop an average of 42 percent compared to a drop of 17 percent in patients taking a placebo. Patients taking 10mg of Epidiolex experienced a 37 percent drop in seizures versues the 17 drop among those taking the placebo.

For Scott Perry, M.D., medical director of the Epilepsy Monitoring Unit and Genetic Epilepsy Clinic at Cook Children’s Jane and John Justin's Neurosciences Center, taking part in a study of this magnitude is the conclusion of more than a decade of his life’s work.

The study enrolled 171 children (average age of 15) from around the world with Lennox-Gastaut Syndrome. Ten of those patients were from Cook Children’s.

Of the patients who completed this trial, 99 percent have opted to continue into an open-label extension trial. The success has prompted GW to seek Food and Drug Administrative approval to make the drug available for prescription by physicians.

With the results from GW Pharmaceuticals showing positive results, there is hope that this may be the answer that parents with children who have hundreds of seizures a day have been looking for.

“The Epilepsy Foundation is thrilled to learn about the recent preliminary results for an innovative new therapy from GW for LGS. LGS in so many cases is extremely difficult to treat, and is an incredible challenge for children and families. We feel a tremendous sense of urgency to stop seizures, and believe that the pursuit of new therapies offers hope to individuals who have no currently available therapy to effectively stop their seizures. The Epilepsy Foundation will continue to be a champion for GW’s efforts to pursue this innovative new therapy as studies progress. We thank GW and all our partners who invest in a better tomorrow for people with epilepsy,” stated Philip Gattone, President and Chief Executive Officer of the Epilepsy Foundation.

Further data will be presented in future publications and medical meetings.

Cook Children’s has participated in three studies that examine CBD as a treatment for severe cases of epilepsy. The worldwide studies gathered data to see if CBD is an effective form of treatment for two uncontrollable forms of epilepsy – Lennox-Gastaut syndrome and Dravet syndrome.

To learn more about the use of CBD, four families graciously agreed to allow us to follow them during the trial, involving Lennox-Gastaut syndrome. These are their stories.

Jordyn's story

At 15 years old, Vanessa Castro was a teen mother. Her daughter, Jordyn, was diagnosed with a rare form of epilepsy Lennox-Gastaut syndrome when she was an infant

Through it all, Vanessa never gave up on her daughter and her fight to see her little girl get better.

At 14 years old, Jordyn had the developmental abilities of an18 month old. She suffered 50 to more than 100 seizures per day and lived on multiple medications, none of which worked.

"If you’re a parent of a child with epilepsy, you know the routine: you start a new medication and the seizures reduce (if you’re lucky) and then a few months go by and they start to increase again," Vanessa said. "Over the years, your hope starts to diminish and you come to realize that this is your child’s life. Not to mention you live in constant fear because you never know if or when that one seizure will come and take your child from you."

Following brain surgery, Jordyn had a stroke that left her paralyzed. After months of rehab, she regained the ability to walk again. Unfortunately, the seizures continued.

Jordyn could only go a day or two, without having a seizure. But there were also days with more than 50 seizures. At a neurology appointment, Dr. Perry approached Vannessa about the CBD study.

The first appointment went from 9 a.m. to 5 p.m., and that was just the screening to make sure Jordyn could even partake in the program. Multiple day-long appointments followed. The study's structure was a challenge for the single mom.

"I have to call every day between 8 p.m. and midnight to report the type and quantity of seizures, which takes about 5-10 minutes," Vanessa said. "If I miss more than two calls, we are kicked out of the program. I work full-time and have two children, so my time is managed wisely. Remembering to call has been a challenge because by the time I’m done with family time, it’s 9 p.m. and I’m ready for bed. But I continue to try my best because my daughter deserves it."

But as time progressed, Vanessa saw results. It began with her daughter going four days with only one seizure. Then she went one full week seizure-free.

Even though this was a blind study, meaning she wasn’t sure if her child was actually receiving the drug or a placebo, Vanessa had little doubt her daughter was taking the medication because of the amazing success she saw throughout. Now, in the next open-label phase, she knows her daughter is taking the medication.

Although it may be the norm for most moms, watching her daughter walk to the bathroom and turning on the light by herself is nothing short of miraculous.

Rikki's story

From 2013 to before the trial, Rikki Adan took at least 13 medications to control his seizures.

Rikki suffered his first seizure at 3 months old in February 2013 and finally after battling Lennox-Gastaut syndrome for nearly three years, the family learned they would be a part of the CBD trial.

"We were all happy that maybe, just maybe, this medication would help my son,” said Sandy Adan, Rikki’s mother. “But sad, scared, upset and nervous also. But words of wisdom from my Jasmine, my daughter helped us. 'Mom, you have given him so many other medications, what if this is the one? If we don't try it, we'll never know.'”

The family began the study in August 2015. The first 30 days were hard, keeping a log of every seizure. For Sandy, mother of four, it made it difficult to keep up with a busy household and continue to chronicle Rikki's seizures.

The seizures impact the entire family. Virginia, age 12 and Rikki's sister wrote, "When I was first told my baby brother had epilepsy, I was really worried. I didn't really know what epilepsy was. When it was explained to me, I understood, but I still questioned why? I know that it is completely OK to be worried, but we still have to stay strong. He is a blessing and we will never give up on him."

The family made it through the trial and continue to take the medication. They are seeing results. Although his seizures aren't fully controlled, Sandy said she has seen a significant change in the severity and frequency of the seizures.

Cody’s story

Cody Tabor, 12 years old, hit all of the milestones one would expect from a normal, well-developed child as a baby. Then, just like that, everything changed.

When he was 19 months old, Cody woke up one Sunday morning with a high fever. His mom, Tess, took him to an ER in Jasper, Texas, and he was admitted. He received antibiotic shots every four hours. 

The next day Tess believed that Cody was on her way to recovery and she would be going home soon. Then she got one of the great shocks of her life.

“As I turned to pick up the phone, I heard a noise,” Tess said. “I turn back around to look at Cody and he was in the rocking chair. He had the most terrifying look on his face. To this day, I will never forget that look. It was the scariest thing I have ever seen in my life. I picked him up ran out of the hospital room screaming, ‘What is wrong with my baby? What is wrong with my baby?’”

Cody was having a seizure. The medical team ran back in the room with Cody, trying to help him. Tess stayed out in the hall scared and crying.

After his initial seizure, things seemed to be snowballing downhill for Cody. He had side effects to a medication that gave him near paralysis. He couldn’t move, even to roll over. Tess said it was “like all the muscles in his body just disappeared.”

In a matter of a few days, Tess, a single mom at the time, watched her normally developing baby suddenly having hundreds of seizures at a time.

Doctors told Tess that Cody did not have much longer to live and that everyone should begin saying their goodbyes.

Tess credits her faith for helping her cope with the way her life had suddenly turned upside down. For the next couple of years, Tess and Cody spent more time in a hospital in Houston than they did at their own home.

Life got better for Tess, but much more hectic. She married her husband, Tommy, and adopted his three kids. They moved to Lubbock, Texas in 2007.

Things were looking up for Cody too. He was going to school, taking speech therapy, physical therapy and occupational therapy. But he still suffered from seizures. After one particular bad one, he was air lifted to Cook Children’s where “we found the providers we love,” Tess said. “So that is where we stay to this day.”

It was then that Cody met Dr. Perry, who diagnosed Cody with Lennox-Gastaut syndrome. From there, other diagnoses came fast – cerebral palsy, developmental delays, innocent heart murmurs and immunoglobulin A (IGA) deficiency.

Tess was frightened at what she had learned about Lennox-Gastaut and yet relieved that at least now this thing that had plagued her son had a name and maybe they could fight it.

The next six years were filled with frustration and struggles. Cody’s treatment included trials of 13 different seizure medications twice daily, but the seizures continued.

It got to the point where Tess felt there was nothing left to do for her son.

“He has been on every medication that I am aware of out there, he has had the surgery to separate the two sides of his brain, he has had the vagal nerve stimulator surgery and nothing has worked,” Tess said.

She would try anything to bring back the little boy she’d known before the seizures began.

Then last fall, she found her first glimmer of hope in a long time when Dr. Perry told her Cook Children’s would be in a clinical trial for cannabidiol treating Lennox-Gastaut.

“My biggest concern about the trial was failure,” Tess said. “I was scared that the oil would not work or help him. If this oil fails then what happens to my son? Where do we go from here? How does he get better? These are questions that I have every day, scared to death that this oil is going to be another failed attempt to help him. It has to work. It just has to.”

Tess said her prayer is a simple one – for Cody to have a better life in some way being big or small. And she also hopes that this trial will make a difference for children in the future.

“I want every parent to be able to have the choice in trying the oil when nothing else has worked,” said Tess. “I want what we are doing to make a difference and make a pathway for others. The oil can help with so much more than seizures. It can help others out there that hit a wall with traditional treatments.”

Cody is currently in the open-label trial.

“Cody has not shown as much improvement as other participating patients in the trial,” Dr. Perry said."Unfortunately, this suggests not every patient is going to improve significantly on CBD treatment."

Jaxon's story

When Jaxon Lane Huffman was born on Dec. 17, 2010, he looked to be perfectly healthy boy.

At 2 ½ months  old,Jaxon's parents woke up to notice he was having "weird movements" while he was sleeping. Doctors told the Huffmans that their son was probably suffering from acid reflux.

The Huffmans began to video Jaxon's movements while he was sleeping. After confirming he was having seizures, Jaxon's pediatrician sent the family to a hospital where he could be monitored for epilepsy.

Later that day, Jaxon was diagnosed with simple partial seizures with an unknown cause at that time. Jaxon was prescribed Phenobarbital for his seizures. He responded well to the medication, and continued to develop like any other baby boy would.

He was seizure-free on the medication, and his parents were hopeful that this was the end of the seizures for their son. Little did they know, that this was only the beginning for Jaxon. Things would soon get worse.

At 6 months old, Jaxon's seizures began again and this time he was having as many as 100 consecutive spasms. The seizures increased in length and he was diagnosed with infantile spasms (sudden bending forward of the body with stiffening of the arms and legs). 

Neurologists tried several medications, but Jaxon suffered several side effects, including high blood pressure, a swollen face and weight gain. Frustrated, the Huffmans took their little boy to Cook Children's.

Dr. Perry found that Jaxon had atrophy of his brain and abnormalities in several areas.

"I cannot describe the feeling when we heard the news," Jennifer said. "As a parent, you have these hopes and dreams for your child to live a wonderful life. Not only was our child not developing, but now we find out that his brain is not developing properly. All we knew to do from that point on was to pray.”

Jaxon tried numerous treatments and was up to four seizure medications or more at a time, but the seizures continued. He also participated in physical therapy, occupational therapy and speech/feeding therapy two times each per week.

At age 4, Jaxon had very little head control, no trunk control, no use of his arms or legs, and was non-verbal. He had no muscle tone, and was not able to sit, crawl, stand or walk. He had 20-40 cluster seizures every day, which consisted of up to 100 spasms per cluster at times. He had three to five grand mal seizures daily and in some cases, stopped breathing.

After much discussion with Dr. Perry, Jaxon was referred to palliative care. "We have exhausted all treatment options for Jaxon at this time," Jennifer said. "We are asking for the opportunity for Jaxon to be able to try CBD. This is the only option left for Jaxon.”

Following the first 12 weeks of the trial, Jennifer saw little difference in Jaxon. Convinced that her son had been on the placebo, the family continued the next phase of the trial. This time they knew Jaxon would receive the CBD oil. 

Since going on CBD, Jennifer has seen Jaxson's seizures decrease by as much as 50 percent. Jaxon still has clusters of seizures, but they are dramatically reduced. Where he once had 20 to 40 clusters a day, he now has an average of about six or seven. It now takes a week or more to have the same amount as he had in one or two days previously. He hasn't had a Grand mal seizure in close to three weeks. 

The decrease in seizures has brought a sense of peace and normalcy that the Huffmans hadn't experienced in a long time. Jaxon is moving more, making noises and laughing more. He has stood in his walker and even moved it for the first time since the family brought it home when Jaxon was 2 years old. 

Perhaps, most importantly, he's sleeping through the night on most nights. Before, the family, including Jaxon's brother and sister, would wake up because of seizures during the night. 

"It's definitely been less stressful," Jennifer said. "Getting through most nights without the constant interruption of seizures has been a huge help for all of us. Knowing that he's getting rest and a good night sleep, honestly, that's the thing that means the most to us right now."

Jennifer said she went into the trial with realistic expectations. She didn't expect it to be cure all, but hoped that it would improve Jaxon's quality of life and that's what she has gotten for her little boy.

"I would have loved for it to have completely stopped his seizures," Jennifer said. "That would have been great. But I knew realistically that probably wasn't going to happen. Knowing that going in, this has not felt like a disappointment for us. We treasure all the little victories we've had during the trial."

The future

Dr. Perry said the inititial research into CBD as a treatment of epilepsy is likely just the tip of the iceberg. He said there's enough evidence to suggest that CBD warrants further investigation as a therapy, but not enough enough evidence, yet, to wholeheartedly support it for more common uses until all the reserach is done.

"If the studies prove positive, there will likely be a whole new class of cannabis-derived drugs in the pipeline for the treatment of epilepsy and Cook Children’s will remain intimately involved in researching those treatments," Dr. Perry said. "Research to discover cures for epilepsy is a primary focus of the Cook Children’s Comprehensive Epilepsy program."

Learn more:

• Scott Perry, M.D.
• Jane and John Justin Neurosciences Center 
• 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

Not a day goes by that Scott Perry, M.D., doesn’t hear that question from parents desperate to help their child. Dr. Perry says he probably discusses the pros and cons of marijuana use for intractable epilepsy at least three or four times a day.

Those questions may increase with the news an experimental cannabis-based drug has successfully treated children with a rare form of severe epilepsy, known as Dravet syndrome broke today.

GW Pharmaceuticals announced positive results from a 120-patient trial on Monday, March 14, 2016. The study shows that patients who took the drug known as Epidiolex saw a monthly reduction of convulsive seizures of 39 percent, compared to a reduction of 13 percent in patients on placebo.

Cook Children’s did not participate in this particular study, but Dr. Perry is leading a team studying the same drug with the same company in three additional trials of Dravet syndrome and Lennox Gastaut Syndrome.

“Many parents of children with epilepsy are interested in considering marijuana, but are afraid of the response they will get from their doctor when they ask,” said Dr. Perry, medical director of the Epilepsy Monitoring Unit and Genetic Epilepsy Clinic at Cook Children’s. “While providers are increasingly more open to the idea that marijuana has some place in medicine, many others continue to regard it as nothing more than an illegal drug with no health benefit.”

Cook Children’s is involved in two studies that examine cannabidiol (CBD) as a treatment for severe cases of epilepsy. The studies, the largest of its kind, are being conducted nationwide in an effort to gather data to see if CBD is an effective form of treatment for two uncontrollable forms of epilepsy – Lennox-Gastaut syndrome and Dravet syndrome.

For Dr. Perry, taking part in a study of this magnitude is the conclusion of more than a decade of his life’s work. It’s also been a passion of his, testifying in front of politicians and lawmakers. Not serving so much as an advocate for CBD, but more so as a scientist and caregiver. He wants to know is this works.

“Without doubt, there is a lot we don’t yet know about how marijuana can be used as a medical treatment, which diseases is it best for, at what doses, at what risks, etc.,” Dr. Perry said. “But to simply ignore the potential health benefits of this plant because of its popular use as a psychoactive drug is short-sighted.”

The experimental drug

The use of an experimental drug isn’t an uncommon practice at most major hospitals, including at Cook Children’s.

An experimental drug is a substance which may be useful to diagnose or treat disease or preserve or enhance health, but has not yet been approved by the U.S. Food and Drug Administration for the specific purpose of treating a patient.

“The drug might or might not be approved for one or a number of conditions, but it becomes ‘experimental’ when used to systematically investigate treatment for an unapproved condition,” said James Marshall, M.D.,Chief Research Officer at Cook Children’s.

The experimental drugs are used, most often, in two situations at Cook Children’s.

Most commonly, experimental drugs are used during the course of an investigation of the drug’s safety, effectiveness and/or how it impacts a patient’s system and well-being. During this time, the drugs are administered under careful supervision and the children are monitored at all times.

Another important, if not as common, use of experimental drugs occurs at hospitals such as Cook Children’s. Once a drug has been approved by the U.S. FDA, experimental drugs, known to be safe and effective in adults, may be used to help children under specific guidelines. This occasion is known as “expanded access” or “compassionate use.”

“In this case, a physician believes that the experimental drug may help his or her patient’s condition for which the drug has not been investigated or approved, but the data seems to indicate a chance it will benefit the child,” Dr. Marshall said.

The data obtained from the use of experimental drugs can be useful to future patients as doctors can see how beneficial they are the next time they are treating a patient with a similar condition.

At Cook Children’s, children participate voluntarily in all experimental drug investigation. Patients and their families, particularly in the case of minor children, must volunteer to participate in any experimental investigation through a process called, “informed consent.”

Informed consent for children is regulated heavily by the U.S. and international governments. This type of consent is managed by a local board concerned only for the safety of research subjects, and far more comprehensive than the normal treatment consent process. Informed Consent for children has several key elements:

• Education by the investigator and his/her team regarding all aspects of the research.
• Informed consent or actually signing a legal document by a minor child’s parent or legally authorized representative.
• Assent or documenting that a minor child understands and agrees to participation, and a continuous, open and welcome ongoing conversation between the participant/family and the investigational team to assure understanding through all phases of the research.

The initial consent/assent process can take several hours, and investigators never really consider the conversation to be closed. Patients and their families often learn more about their condition during the consent/assent process than they would by receiving treatment only. Patients and families can decide to stop participation even before the experimental drug is administered.

However, many patient families see the importance of participating in these experimental drugs and the benefit it may bring to not only their child, but to patients in the future.

“At Cook Children’s, we believe that all children deserve the best, evidence-based treatment strategies available to manage their illnesses and maintain good health,” Dr. Marshall said. “Cook Children’s patients have the opportunity to contribute to the health of other children through safe and ethical clinical research. We treasure the fact that clinical research is the essence of people voluntarily caring for the future of mankind.”

Why a study of the use of Cannabidiol is needed

To prove a therapy is effective the following is needed:

• Controlled trials - studies where all the patients enrolled have similar conditions and in the process eliminate many variables that may affect the outcome other than use of the drug.
• Blinded studies - studies where neither the doctor nor the patient know what treatment they are on, to avoid bias.
• Placebo controls - some patients get the medicine and some get a “sugar pill” to make sure the improvement in seizures is not related to chance alone.

While early reports from families suggest CBD is well tolerated in most patients, standardized evaluation of side effects and long-term data will be very important. There is considerable concern about what impact CBD may have on the developing brain of a child and no trials in children have been sufficient yet to answer this question.

Finally, there is not yet adequate standardization of CBD production. Numerous states have CBD laws, all slightly different in their requirements, their oversight, and the conditions which can be legally treated.

“When you get a drug at the pharmacy, it is required by law to have certain standard properties to insure that each pill is similar to the next,” Dr. Perry said. “Families are often concerned about getting generic over brand name drugs – but even generic drugs have rules to insure they are very similar to their brand-name equivalent. Marijuana plants may have varied amounts of CBD and THC depending on the plant species, the growing conditions, and the extraction of the medication from the plant.”

Dr. Perry said the take home point is not whether or not CBD is a treatment for epilepsy, but is it ready to be used just as any other seizure medication now. Adequate evidence suggest that it warrants further investigation as a therapy, but there is inadequate evidence to wholeheartedly support it for more common use until the research is done.

The misconceptions of medical marijuana

The first question people often ask is “will it get my kid high?” Marijuana plants contain a number of substances which may hold potential to treat disease. There are two main chemicals in marijuana – the first and best known is THC. THC is the psychoactive part of marijuana – or the part that makes you “high.”

Cannabidiol (CBD) is another component and the one most people are interested in as a treatment for epilepsy. CBD has no psychoactive properties, so it doesn’t produce a “high.”

The second question is often “won’t smoking marijuana be bad for my child?” CBD is not administered by children smoking. It is typically formulated into an oil based liquid, so it can be given by mouth.

The next logical question is whether there is any evidence that CBD is effective at treating epilepsy – and this is where the research that Dr. Perry and his team are participating in comes into play.

“While the medical community is encouraged by the favorable reports from patients using CBD in other states, we understand that this type of ‘self-reported’ data is not adequate to prove a treatment works,” he said. “Often when a child improves with a medical treatment, the family will sing the praises of the miracle medication they found. We rarely ever hear from those people that tried yet another treatment that failed – as they simply have moved on looking for another potential cure. Therefore, while many people have reported success with CBD, we don’t know how many have failed using the same treatment.”