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

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

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

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

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

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

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

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

Understanding Dravet

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

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

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

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

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

Methods and Findings

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

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

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

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

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

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

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

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

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Bridging Innovation and Patient Care

Backed by over 20 years of translational research experience and with 100+ peer-reviewed research investigation articles under his belt, Dr. Papadelis brings a wealth of scientific expertise to this partnership, all driven by compassion for people. 

“What I like to see with my research is how to help children,” Dr. Papadelis said. “That's why I like what's called translational research. It's not science for the sake of science. It's science for the sake of applying the knowledge to help somebody.” 

Both organizations provide critical assets for translational research, which is the bridge connecting basic discoveries to the application of those discoveries within patient care. 

“UTA has been active in translational research for a long time, but we want to expand in big ways,” Dr. Weidanz said. “I think Dr. Papadelis and this growing partnership with Cook Children’s is really setting all of that in motion. It’s really unique that we can bring the best of both worlds together so that we both excel in translational medicine. It’s a win for all of us, and most importantly, for patients.” 

With its brain-trust of academic researchers, including doctoral and postdoctoral candidates, as well as leading-edge laboratories and technology, UTA provides the infrastructure for imagination-driven discovery that could lead to breakthroughs in treating rare and complex neurologic conditions in children. 

Cook Children’s diverse patient population offers UTA researchers an expanded pool of potential study participants. In addition, the health system’s vast network of clinical experts, who understand the unique needs and challenges of pediatric health care, can apply and evaluate research findings in real time within their care settings. 

“Our department is a support system for this work,” said Luke Hamilton, Cook Children’s director of Clinical and Translational Research. “Our scientists have expertise in translating data produced from clinical encounters, aggregating, and analyzing for findings to create a new evidence base that can be fed back to our clinicians and improve clinical care."

A Ripple Effect

Along with enhancing Cook Children’s ability to deliver evidence-based innovation in patient care, this collaboration boosts both organizations’ ability to attract competitive federal funding, postdoctoral talent and joint appointments, which increases their visibility in academic publishing and conference networks. 

The local economy could score big, too. 

“We shouldn't overlook economic development and the impact we can have on growing our community,” Dr. Weidanz said. “I think these collaborations, starting with Dr. Papadelis and looking forward to what comes next, could eventually lead to the commercialization of some of these new findings, and that translates to jobs. Of course, we’ll never lose sight of the patient, but these partnerships really help the community flourish."

From Ancient Cities to the Western Frontier

Born in Athens, Greece, and raised in Thessaloniki, Dr. Papadelis parlayed an electrical engineering diploma from Aristotle University into a career studying the electrical pathways of the pediatric brain, taking special interest in epilepsy and movement disorders such as cerebral palsy. 

“I found that engineers like objects, but they don't like communicating with people,” Dr. Papadelis said. “I'm a very extravagant personality. I like to connect with people, and I talk a lot, so I realized I didn't belong there. But the engineering school gave me knowledge of how to use engineering skills in health care to help physicians. That’s when I went for a master’s and Ph.D. in biomedical engineering. I found my spot there and realized there is so much technology and tools that we can use to help physicians, and this is what I found fascinating.” 

In his prestigious career, Dr. Papadelis has lived and worked in five cities throughout four different countries across three continents. At the RIKEN Brain Science Institute in Japan, he honed his skills in the neuroimaging technique known as magnetoencephalography (MEG)—the fastest brain imaging tool available, allowing doctors to see brain activity in real time. In Trento, Italy, Dr. Papadelis marveled at his daily view of the Italian Alps while completing a post-doctoral fellowship at the Center for Mind/Brain Sciences at the University of Trento. 

In 2011, the neuroscientist made his way across the pond for his first faculty appointment—a professorship teaching neurology at Harvard Medical School. He also joined the research staff of Boston Children’s Hospital, where he led the development of its clinical MEG laboratories and programs. 

Cook Children’s invited Dr. Papadelis to join the health system in 2019. His heart for connection made him the perfect fit for a health system whose promise to do everything for the child is fueled by kindness, collaboration and imagination. The prospect of warmer weather made the offer all the more attractive. 

“I was looking for a change in my career, and I decided to give it a try,” Dr. Papadelis said. “I moved down here with my family, and we love it. We felt really welcome. Being Greek, I feel like I belong in the south because I like the weather.” 

Dr. Papadelis was first named Cook Children’s founding director of Research within its Neurosciences program. In September 2024, he became the assistant vice president of Research at the newly opened Jane and John Justin Institute for Mind Health at Cook Children’s. The Cook Children’s team he leads includes several UTA faculty members, postdoctoral researchers, alumna and research assistants, as well as a host of UTA doctoral students. 

Since arriving in North Texas, Dr. Papadelis has led Cook Children’s to new heights with several “firsts” for the health system. These include Cook Children’s receiving its first research grant from the National Institutes of Health, securing its first patent, and achieving its first fully approved Institutional Review Board (IRB) protocol for using Transcranial Magnetic Stimulation in conditions like cerebral palsy. 

While his research covers a broad range of studies in neuroscience, clinical neurophysiology and biomedical engineering, Dr. Papadelis’ main goal is to develop a novel epilepsy biomarker that will help children with drug-resistant epilepsy become seizure-free after resective neurosurgery, and he’s well on his way. Under his leadership, Cook Children’s Neurosciences research team has uncovered several new signs for identifying the epileptogenic zone with high precision, and developed new AI tools for predicting surgical outcomes in children with drug-resistant epilepsy. These discoveries and prediction tools help guide physicians in their treatment, improve the accuracy of surgical interventions, and give new hope to patients with uncontrolled seizures. 

“Cook Children’s is not just a hospital that takes care of the children in the region,” Dr. Papadelis said. “We develop here, and we perform very innovative research that has been recognized nationally and internationally by the scientific community.” 

Shortly after joining Cook Children’s, Dr. Papadelis also joined UTA’s faculty as a professor of Bioengineering. From that relationship grew the framework for the Pediatric Brain Health and Neurosciences Center partnership. In addition to his Cook Children’s team, Dr. Papadelis oversees a 16-member research team at UTA, while also mentoring several doctoral and postdoctoral candidates. 

“Dr. Papadelis is an incredibly passionate, creative and curious scientist with an eye on delivering his research findings to the patient,” Dr. Weidanz said. “He laid the groundwork for what’s to come, and that is a very strong partnership between UTA and Cook Children’s.” 
 

She and her husband, Zach Beavers, spoke with numerous hospitals, but none would take them. Most places were either not willing or not equipped to handle the heart defect that had been detected in their unborn daughter.

While still in the womb, Anna Claire was diagnosed with a rare heart condition in which the left side of the heart is too small to pump blood. To make things more complicated, she also had a genetic condition that stilted her growth. Two months before Anna Claire’s due date in April, the Beavers’ found out their home hospital in Georgia was not willing to operate on her due to the high risks.

With less than a month to go, the Beavers found a ray of hope when their doctor heard about a hospital in Texas that had unusually positive results treating Anna Claire’s condition. There seemed to be one place that would help them: Cook Children’s Medical Center – Fort Worth. 

One of the first things Cardiologist Kevin Wilkes, M.D. learned about Cook Children’s was that the hospital doesn’t shy away from taking care of the most medically complex children. As a pediatric and fetal cardiologist, Wilkes also quickly learned—and is part of the reason—that Cook Children’s excels at treating those children.

In 2024, Dr. Wilkes noticed one area in particular where Cook Children’s seemed to achieve better patient outcomes than other hospitals: a rare but life-threatening combination of Hypoplastic Left Heart Syndrome (HLHS) and Turner Syndrome. In HLHS, the left side of the heart does not develop properly and cannot pump blood to the body. In Turner Syndrome, the X chromosome is missing or partially missing. In very rare cases, babies -- like Anna Claire -- can have both.

Through the Pediatric Research Program, a partnership between UNT Health Fort Worth and Cook Children’s, third-year medical student Anisha Saripalli started to look into the numbers. Over the summer of 2024, she, along with Research Scientists Chris Tsao and Fadeke Ogunyankin, dug through electronic case records in Cook Children’s basement. The results were compelling.

Compared to other hospitals, Cook Children’s outcomes for babies with Turner Syndrome and HLHS are some of the best in the nation, far exceeding the mortality rate of other centers. On average, between 80 and 90% of babies with both conditions die across the country after their first surgery. In fact, the prognosis at many hospitals is so poor for those patients that many places won’t even attempt to perform surgery on a baby with both conditions. However, at Cook Children’s, 100% of babies survived their first surgery.

“That's pretty solid to recommend that these patients go through the surgery, because we're increasing their chance of having a good life. And we're not just saying, ‘oh, well, you're incurable, untreatable,’” Saripalli said.

In short, Cook Children’s gives these babies a chance.

And hundreds of miles away, one family was asking for just that.

In February 2025, the same month that Saripalli’s research was presented at a cardiology conference, the Beavers found out that Anna Claire had both HLHS and Turner Syndrome.

Their birth plans suddenly vanished; the Atlanta hospital where Sarah Ellen planned to deliver said it did not have the ability to treat Anna Claire’s condition.

Because the left side of Anna Claire’s heart could not pump blood, the right side of her heart would need to become the pumping chamber for the rest of the body. But few hospitals are able or willing to perform the surgery on babies with Turner Syndrome due to the added complications.

Anna Claire would need three heart surgeries, the first of which -- called the Norwood surgery – would have to be done within three days of her birth. The Beavers contacted several major heart centers, but they all said they could not take Anna Claire.

“We were just hoping someone would say yes. Because statistics really were not super favorable, and so we were really prepared for the worst,” Sarah Ellen said. “But we were just hoping for a chance.”

At the end of February, Dr. Wilkes presented Saripalli’s research at a Cardiology Conference in Florida. She and the research team found that between 2013 and 2024, Cook Children’s saw six babies with HLHS and Turner Syndrome. In contrast to the high mortality at other hospitals, at Cook Children’s, five of the babies (83%) are alive. 

Coincidentally, the Beavers’ cardiologist happened to attend the presentation. He immediately thought of his patients back in Georgia.

“On Friday afternoon, our home cardiologist called us and was like, ‘hey, there's someone with really good statistics,” Sarah Ellen said. “And that probably got us through the weekend, because we already had gotten two ‘nos’ from hospitals. And we were like, ‘What are we gonna do?’ We don't have time.”

That Monday, the Beavers scheduled a phone call with Dr. Wilkes and Vincent Tam, M.D., the Medical Director of Cook Children's Cardiothoracic Surgery. Dr. Tam walked them through the procedures he would perform on Anna Claire. While other hospitals would not consider taking on Anna Claire’s condition, Dr. Tam seemed undaunted.

“(Tam) never balked at any of it,” Zach said. “He never thought that it was a challenge or any concern, and just made it seem like he's just gonna do the same thing that he always does, and it was gonna be great.”

The Beavers packed the biggest suitcases they had and, leaving behind their home hospital and friends and family, headed to Texas.

On March 25, the Beavers stepped into Cook Children’s for the first time.

“We walked the halls receiving a quick tour and then we had the opportunity to meet with Dr. Tam, Anna Claire’s surgeon,” Sarah Ellen wrote that day on the family’s CaringBridge blog, which provided updates on Anna Claire. “After over an hour with him, we were more at peace believing that the Lord intended for us to be here all along.”

Leading up to Anna Claire’s birth -- and her open-heart surgery – Dr. Tam, Dr. Wilkes and other Cook Children’s staff did everything they could to make the Beavers comfortable and confident. Dr. Tam explained the surgery to them again and it was clear to the Beavers that he had studied and perfected the procedure.

But there was still a risk. Saripalli said there is not much research on babies with both HLHS and Turner Syndrome because the condition is so rare.

But Dr. Tam and Dr. Wilkes were confident. Cook Children’s has such good outcomes, they said, because of the infrastructure and support built into every layer of the medical center.

“I've been here at Cook Children’s for more than 20 years, and we have gradually built a team to the point where we really have excellent people working in all of the teams involved,” Dr. Tam said. “Including nursing staff, respiratory therapy, the technicians that do the ultrasound for the Echo, all of our cardiologists, the ICU doctors, the anesthesiologist doctors, the nurses that help with anesthesia. And my whole operating room team. I mean it's a huge team effort.”

On April 3, that medical team assembled to welcome Anna Claire to the world.

Anna Claire was born right on time, at 4:56 a.m. on her due date at a nearby hospital before being transferred to Cook Children’s and Dr. Tam knew he had to move quickly so that the right side of her heart didn’t overwork itself. The next day, Anna Claire had her first open-heart surgery.

The group effort paid off; Anna Claire’s first surgery was a success. The team successfully began the process of reworking the right ventricle to support the rest of her circulation.

The following week brought another scary moment when blood and fluid started to build up around Anna Claire’s tiny heart and the medical team determined they needed to open her back up. Fortunately, Dr. Tam and the team found the source of the bleeding and stopped it immediately.

The next weeks brought other challenges and still more members onto Anna Claire’s medical team. Her feeding, oxygen levels, sleep patterns and every internal system were constantly monitored. The next five weeks, Zach said, felt like months.

“Yeah, there were days it was just… you kind of went to bed like, ‘man, this was a lot,’ and you woke up knowing ‘we're doing it again today,’” Sarah Ellen said.

But they also found support at Cook Children’s.

“In these days, this place has held us,” Sarah Ellen wrote at the time on her blog. “Strangers have become best friends and family. Nurses and doctors have become dear friends. Staff members have learned our family’s story. The doors we walked in on March 25 have become a place we will forever call home.”

Anna Claire was able to temporarily leave the hospital on May 30 and stay at the Beavers’ temporary home that a local DFW family offered them. On July 24, she had her second open- heart surgery. While anxiety-inducing for the Beavers, the surgery went well, and Anna Claire made the monumental milestone of moving from the ICU to the less intensive Cardiac Step Down Unit.

Exactly five months after the Beavers arrived -- unsure of how long they would be away from home and uncertain about their daughter’s future -- the family of three left Fort Worth to head back home to Georgia.

Leaving was emotional for many reasons. They were excited to return to their home, family and, most importantly, their Georgia Bulldogs (Anna Claire had a jersey waiting for her at home). But they had to say goodbye to the dozens of people at Cook Children’s who made one of the most challenging times of their lives into something bearable. On Aug. 8, they visited the Cardiology Unit with Anna Claire, who wore a jumper adorned with blue flowers and a white bow. The staff excitedly gathered around her, commenting on how strong she looked and how well she drank from her bottle.

Two of Anna Claire’s nurses with the Home Monitoring Unit, Emma Hughes and Mariah Trammel, marveled at how she had exceeded everyone’s expectations.

“Just in general, having her heart diagnosis is really challenging and she has a genetic component on top of that, which adds to the complexity,” Mariah Trammel, Heart Center Discharge Coordinator, Cardiology-Administration, said. “So we were one of the only institutions that were willing to take her on and do her surgery. And she has done incredibly well.”

Before leaving Fort Worth, they also met Saripalli for the first time. For Saripalli, meeting the family brought home the fact that her research, and the decades of work it's based on, has real, life-saving implications. Saripalli’s project highlighted how Cook Children’s has created a collaboration between research and clinical medicine that leads to immediate impact. Medical research can take years to trickle down to actual patients. Cook Children’s partnerships with universities like UNT Health Fort Worth means solutions can be rapidly translated to real results.

Saripalli, Dr. Tam and Dr. Wilkes hope the Beavers’ story and Saripalli’s research provide a similar ray of hope for others.

“This research at Cook Children's was a game changer,” Dr. Wilkes said. “And I think you see that in how quickly it affected the family. By getting that information out there nationally at a conference within a week, we were able to change the outcome of a family. I hope in the future we can change the outcome of many more families undergoing this type of heart surgery.”

Anna Claire is now seven months old and continues to thrive in Georgia.

Running around too much or getting too hot used to trigger seizures several times a week for 8-year-old Sebastian Ruiz.

But since he started new investigational treatment through a clinical study at Cook Children’s, the seizures happen less often -- once or twice a month – and don’t last as long, Sebastian’s mom said.

Sebastian is one of about 20,000 people in the United States with a rare form of epilepsy called Dravet syndrome. Along with seizures, the disorder also leads to problems with speech, sleep, development and intellectual abilities among other issues. Sebastian was diagnosed with Dravet syndrome at 15 months old.

Juan and Rainey Ruiz make the two-hour drive from their home in Rosebud, Texas, to Cook Children’s Medical Center in Fort Worth so that their son can receive a new treatment still in the trial stage. That medication, called zorevunersen, works to offset the genetic malfunction that causes Dravet syndrome.   

Rainey Ruiz said Sebastian used to have seizures that sometimes lasted from 30 minutes to an hour. Other medications weren’t helping. Now he receives a dose of zorevunersen every four months via spinal tap as part of the SWALLOWTAIL study. Rainey is grateful Sebastian has the chance to try an innovative therapy.

“When you’re a mom, you’re just desperate for anything and hope you’re doing the right thing,” she said. “It’s hard for me to be content with where we are and not try for something better for him.”

The U.S. Food and Drug Administration in December 2024 granted the medicine a breakthrough therapy designation as a potential disease-modifying treatment for Dravet syndrome. In Dravet syndrome, one of the two copies of the SCN1a gene has a variant, or change that impairs the genes ability to make a normally functioning sodium channel. The sodium channel is essential for the brain's neurons to fire appropriately. Zorevunersen is designed to capitalize on the healthy copy of SCN1a, helping it produce more functional sodium channel proteins in the brain, addressing the disorder’s root cause rather than just treating its symptoms.

Biotechnology company Stoke Therapeutics, Inc. opened a third phase of the trial, called EMPEROR, in August 2025. M. Scott Perry, M.D., epileptologist and head of the Justin Institute at Cook Children’s, serves as lead investigator at Cook Children’s. The trial across approximately 70 sites involves 170 children and teens who have the SCN1A gene variant responsible for Dravet syndrome. The goal? To assess the medication’s safety and its impact on seizures, communication and other areas.

Patients enrolled in the EMPEROR trial undergo four spinal taps over 52 weeks, the first two 8 weeks apart and each additional procedure every 16 weeks. Patients will either get zorevunersen or no treatment during the 52-week period. The trial’s first patient from Cook Children’s received their initial dose in September 2025. 

Dr. Perry said patients in SWALLOWTAIL and other earlier phases experienced fewer seizures, less severe seizures and improved ability to communicate and interact, as well as improvements in motor skills.  

“The disease-modifying therapy is trying to correct the underlying cause,” Dr. Perry said. “And if you can correct the underlying cause or at least lessen the underlying cause’s impact, then you can have improvement across multiple manifestations of the disease.”

How It Works

Most people with Dravet syndrome have a mutation in the SCN1A gene that disrupts the production of normally functioning sodium channel proteins in the brain, causing abnormal electrical flow that leads to seizures. While one copy of their gene is producing good proteins, Dr. Perry explained, the mutated version is producing proteins that don’t work effectively. 

Ribosomes are the part of the cells that read messenger RNA (mRNA), which Dr. Perry described as the recipe that makes up the sodium channel. Zorevunersen prompts the ribosomes to skip over and not read the portion of the mRNA that destroys both healthy and unhealthy copies. Because they’re not being discarded anymore – a natural process to limit overproduction of proteins -- more healthy copies are available. As a result, more functioning sodium channel proteins can be created.  

“You end up basically getting almost 100% of the healthy version through to make up for what you’re losing on the unhealthy side,” Dr. Perry said.

Cook Children’s treats about 100-125 Dravet syndrome patients from across the country. As a recognized leader in epilepsy care and research, Cook Children’s was the initial site Stoke Therapeutics visited ahead of the EMPEROR trial. Cook Children’s Neuropsychology, Neurodiagnostics, Anesthesiology, Radiology and MRI departments are involved as well.

“I think it underscores what is possible at Cook Children’s from a research standpoint,” Dr. Perry said. “That is not a simple trial. It’s quite complex in its design. Cook Children’s was selected to participate because we can do it well. We have a track record of doing it well.”

Current options in doctors’ toolkits focus on treating the seizures, he said. Other symptoms, such as speech, still present problems. Zorevunersen gives doctors hope that precision medicine will change the genetic factors behind Dravet syndrome so that patients see improvement across the board.

Spotlight on Sebastian

Sebastian had his first seizure at 4 months old and the next one three months later. They happened more frequently after that, and sometimes he had to be intubated at the hospital during a seizure. He started coming to Cook Children’s at age 2 years when the Ruiz family sought out a neurologist who specialized in Dravet syndrome. 

“Dr. Perry is the top. He’s amazing,” Rainey said. 

Sebastian had been enrolled in several clinical trials prior to SWALLOWTAIL. Now a third-grader, Sebastian has limited ability in speech, but he recently started recognizing letters of the alphabet. He loves basketball, school and his four siblings. Running a fever, overheating or overstimulation can still bring on seizures -- but not as often since he started the zorevunersen therapy, his mom said.

Participating in clinical trials can be long and hard, and there’s no guarantee the medication will benefit your child, Rainey pointed out. But trials provide hope for better outcomes for patients in the future. She encouraged parents of Dravet syndrome patients to consider enrolling if that’s an option for them.  

“It’s just hard for me to stand by and not try to do something,” she said. “Even if it helps other kids, it’s still a win-win. You can change lives in other ways.”

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A Mother’s Intuition, a Doctor’s Care

Piper Francis, 17, has been playing softball with lifelong friends since second grade, but last year, she noticed she was having difficulty breathing during practice. She saw multiple doctors who prescribed her asthma inhalers that didn’t help. She was heartbroken and was preparing to transition from an active player to team manager. Then, in early 2025, she was referred to the Exercise Respiratory Center at Cook Children’s – Prosper where her care team identified her breathing issue and helped her recover. Now, she’s back on the softball field and excited to play in her senior year.

Pulmonology Care at Cook Children’s 

John Robertson, M.D., pediatric pulmonologist at Cook Children’s Medical Center - Prosper, was Piper’s advocate, quickly figuring out what she needed to improve her breathing and help her continue playing softball.

“Almost every day last year, I would feel tightness in my chest and throat. It felt like something was blocking my airway,” Piper said. “I’d show up at softball practice and have to sit out through half of it. Now I’ve been able to go back to practice after seeing Dr. Robertson. He immediately recognized my problem and I felt better in less than a month!”

Piper was diagnosed with three conditions – exercise-induced asthma, exercise-induced laryngeal obstruction (EILO) and dysfunctional breathing. 

“The big challenge is that the problems look like each other,” Dr. Robertson said. “Asthma labels are really common and doctors may be right most of the time, but when asthma medications don’t work, there are no standard guidelines pointing at what to do next. The symptoms of these diagnoses – EILO and dysfunctional breathing – aren’t a problem of diseased tissues. They’re normal structures functioning abnormally.”

EILO happens when the vocal cords or neighboring structures collapse on inhalation during strenuous exercise.

Dysfunctional breathing occurs when someone breathes primarily with chest muscles instead of the diaphragm, resulting in inefficient, fast, shallow breaths rather than slower and deeper ones.

Finally Diagnosed at Cook Children’s Exercise Respiratory Center

Piper was diagnosed with EILO and dysfunctional breathing with testing at Cook Children’s Exercise Respiratory Center, which opened in 2023. The Exercise Respiratory Center diagnoses, treats and researches the causes of exercise-induced respiratory symptoms for older children, adolescents and young adults. Some of the many duties of the researchers at the Exercise Respiratory Center, Rebecca Brovina, MSHS, BSN, RN, CPN, and Andy Kreutzer, PhD, CSCS, LSSWB, include gathering data and presenting findings to share with other medical professionals about the diagnosis and treatment of exercise-induced respiratory symptoms.

It’s one of three centers in the U.S. that test continuous laryngoscopy during exercise (CLE) for children and the only center in Texas. During this test, Dr. Robertson will use a scope to view the patient’s voice box and vocal cords while the child exercises. Dr. Robertson was recently named a finalist for D CEO's 2025 Excellence in Healthcare Awards for Outstanding Healthcare Innovator.

“We just finished our 100th CLE test recently,” Dr. Robertson said. “We perform maximal exercise tests, try to provoke the symptoms under investigation while we are examining the patient's voice box with a camera and measuring their breathing efficiency, so we can see what is malfunctioning precisely when symptoms are present.”

Athletic patients like Piper are typically treated within four to six weeks, consisting of four to six visits of physical therapy and/or speech therapy. Piper only needed three visits.

“Piper is a very special person,” Dr. Robertson said. “She’s a dedicated athlete, driven and very competitive and her success story has been inspiring for all of us!”

Physical Therapy and Speech Therapy: Learning How to Breathe Again

Dr. Robertson’s Exercise Respiratory team includes a physical therapist and a speech therapist. Part of Piper’s care includes learning how to breathe again – through her diaphragm instead of her chest.

“Throughout PT and speech therapy, I’ve learned a lot of new breathing techniques,” Piper said. “My symptoms have drastically changed. I can make it through an entire practice now without struggling and missing practice trying to breathe. Learning how to breathe correctly helped me the most!”

Now, whenever Piper feels chest pain, throat tightness, lightheadedness, or breathing difficulties, she first notices if she’s overlooking her breathing techniques and then makes a conscious effort to stay aware and focus on her breathing.

Finding Answers and Hope for Others

Since Piper’s care with Dr. Robertson and the Exercise Respiratory team, her health has drastically changed.

“Emotionally, it makes me feel relieved,” Piper said. “I don’t have to worry about struggling at practice anymore and I can just show up and perform my best.”

Piper’s mom, Kristi Francis, noticed last year that she would come home from softball practice exhausted, had trouble breathing and it would take hours before she felt back to normal.

“It’s been a game changer for Piper,” Kristi said. “We went from doctor to doctor and no one really listened and everyone thought we were crazy. They didn’t believe her symptoms and we finally got to someone who knew exactly what to do.”

When to Seek Further Evaluation

“I feel like this condition needs to be more recognized and that a lot more people actually have it and just don’t know,” Piper said. 

General red flags for people to pay attention to and seek further evaluation:

1. If someone is labeled as having asthma and uses an inhaler, but still has lots of symptoms when the asthma treatment doesn’t help.
2. In EILO, there can be a symptom called stridor, which is exclusive to the voice box: stridor occurs when breathing in, usually as a loud, high-pitched sound that can be heard by others standing nearby. In asthma, wheezing happens during the breath out and is usually a quieter sound only noticed by the person experiencing the symptom.
3. Along with the symptoms above, experiencing dizziness and lightheadedness, passing out/coming close to passing out.

Finding the right diagnosis makes all the difference and can help athletes like Piper feel better, get back to competition and even breathe better than ever before.

Their findings were published in March 2025 in the top-tier scientific journal Nature Portfolio Journal Digital Medicine. The article explains how the research team designed and trained a machine-learning tool to specifically locate the seizure starting point in children and teenagers.

During their two-year study, the researchers came up with an automated system that works by analyzing recordings of electrical activity in the brain. The researchers entered the data into the framework, and the system learned to identify where the drug-resistant seizures started.

“The system provides as an output to the epileptologists and neurosurgeons the brain area to resect in order for the patient to become seizure free,” said Christos Papadelis, Ph.D., Assistant Vice President of Neuroscience Research at the Jane and John Justin Institute for Mind Health at Cook Children’s Health Care System.

Dr. Papadelis teamed up with his postdoctoral research fellow Hmayag Partamian, Ph.D., to come up with the project’s concept and experimental design. Dr. Partamian developed the mathematical formulas and codes. The work took place in labs at Cook Children’s Medical Center in Fort Worth and at the University of Texas at Arlington, where Dr. Papadelis serves as Professor of Research in Bioengineering and Director of the Pediatric Brain Health and Neurosciences Center.  

The study utilized data from 43 children with drug-resistant epilepsy who underwent resective surgery. The goal of resective surgery is to stop seizures from occurring by removing the brain tissue where the seizures originate.  

Dr. Papadelis said the new AI-based tool could help improve the outcome of those surgeries by precisely defining which tissue to remove, giving those patients hope for a seizure-free future.

Where Seizures Begin

Nearly 500,000 children nationwide live with the chronic disorder of epilepsy. They suffer from seizures, which are misfiring of electrical activity in the brain. Someone experiencing a seizure might have a blank stare, muscle spasms, or loss of consciousness. Medications control seizures in about 70% of epilepsy patients. The others have what’s called drug-resistant epilepsy. 

The AI tool created by Dr. Papadelis and his team requires just five minutes of recorded brain electrical activity to determine the area of seizure origin. This presents a significant advantage compared to conventional methods that typically require recording the brain activity for several days -- or even weeks -- in order to capture a seizure.

The tool then transforms the electrophysiological data into color-coded maps of brain activity across time and corresponding these maps into active epileptic regions in the brain. Researchers trained the AI tool to automatically discriminate epileptic from healthy brain regions in these maps. Surgical resection of the epileptic regions in these brain maps can predict a good prognosis for the patient.

Dr. Papadelis pointed out important features of the automated process:

• Less chance for human error from manual interpretation of the data
• Reduced costs, time and risks from the presurgical evaluation process

“We have developed an AI, patient-specific method that automatically identifies the brain area that generates seizures in patients with drug-resistant epilepsy. This method requires little to no input from clinicians,” Dr. Papadelis said. “Our method eliminates the need for manual data inspection, reduces prolonged monitoring and enhances surgical planning.”

The study is in collaboration with Boston Children’s Hospital and is funded by a grant from the National Institute of Neurological Disorders and Stroke.

Dr. Papadelis plans to seek extra funding for the study’s next phase: applying the tool prospectively to patients who are candidates for surgical intervention at Cook Children’s.

Dr. Papadelis believes that the findings of this study represent a significant step toward improved surgical procedures for drug-resistant epilepsy.

“Such a framework would be particularly useful to epilepsy centers that lack the multidisciplinary expertise to delineate accurately and precisely the epileptogenic brain regions in complex cases,” the article states.  

Dr. Papadelis credited the dedication of all the researchers, and in particular he highlighted Dr. Partamian’s talent for scripting. The study shows direct benefits that align with the Cook Children’s Promise to improve the well-being of every child in our care and communities, he said.

“This is one of the moments that makes you feel really proud of the work that you have accomplished together with your team,” he said. “We keep our Promise to do our best for improving the lives of children suffering from devastating neurological disorders.” 

RELATED STORIES:
Cook Children’s Neuroscience Research Published in Brain Journal for 2nd Time This Year
History in the Making: Cook Children’s Secures NIH Grant
Cook Children’s Lead Neurosciences Researcher Addresses Congress Members on Capitol Hill

Growing up, Rebecca Brovina always wanted to be a nurse, just like her grandma. “I have always dreamed of being as successful and cool as she was,” Brovina said. Now, many would say, she is living up to that.

Rebecca Brovina, BSN, RN, CPN, Research Nurse Coordinator at Cook Children’s Pulmonology - Prosper, was just recently awarded the Great 100 Nurses for 2025, highlighting her outstanding contributions in her field.

Nurses are nominated for this award by family members, patients, peers, former teachers, physicians, and administrators. Over the past 34 years, this award has become recognized throughout the nursing community in the Dallas/Fort Worth metroplex as an esteemed honor and prestigious accomplishment.

Rebecca's journey began in the Pediatric Intensive Care Unit (PICU), where she worked closely with John Robertson, M.D. Dr. Robertson was starting research focused on understanding and treating exercise-induced respiratory disorders, and when Rebecca heard about it, her interest was immediately piqued. She almost instantly became a vital part of this dedicated research team.

“Rebecca’s superpowers are intelligence, creativity, empathy, and humor, in equal overflowing measure,” Dr. Robertson said. 

These disorders often lead young athletes to quit sports, which can significantly impact their self-confidence. Rebecca vividly recalls a patient who had to quit all her sports due to an undiagnosed condition and suffered a massive blow to her self-confidence. She found no answers until she visited the Cook Children's Exercise Respiratory Center in Prosper. Rebecca remembers witnessing the relief they experienced when they finally felt heard. As the patient's parent put it, "We finally feel like someone listened to us.”

In February 2025, Rebecca received first place in the 2025 Research Poster Presentation Master's Level at the Texas Chapter of the American College of Sports Medicine. The presentation, Estimating Minute Ventilation and Inspiratory Flow to Trigger Exercise Induced Laryngeal Obstruction (EILO) in Pediatric Patients, also led to the team's first published abstract.

At the exercise respiratory center in Prosper, no two days are exactly the same for Rebecca; there is always a unique blend of patient interaction, education and research. One of her primary roles is educating patients prior to their appointments and administering research surveys. Her work often involves looking for a connection between respiration disorders and other neurological conditions. Rebecca is also heavily involved in writing protocols, giving presentations, and videoing the end of procedures.

The respiratory clinic also uses a method that is only employed in three places in the country. In this method, a scope is inserted through the nose and down into the back of the throat while the patient is running on the treadmill. This novel approach helps discover dynamic changes in the airway that occur during exercise. This cutting-edge and unique approach is something Rebecca loves about her job.

“My favorite part of research is being able to develop things and actually be able to help people,” Rebecca said.

Rebecca’s motivation and her “why” stems from a deeply personal place. Having experienced health challenges herself, including worsening asthma and a spinal cord injury, she understands firsthand how not being able to do the one thing you love can impact a child. Rebecca is so passionate about her job because, as she said, she understands "how mentally and physically damaging it is to not be able to do the one thing that keeps you sane.”

Throughout her career as a nurse, she has also witnessed firsthand, patients not receiving the care they deserve, often due to insurance problems. This fueled her desire to change how people are cared for, develop new solutions, and truly help. Rebecca’s passion can be seen in every interaction and shows her commitment to getting patients back to doing what they love.

“I wrote my thesis on discharge delays," Rebecca said. "I would see kids who would have extended hospital stays simply trying to get the gear and medicine they need.”

Rebecca has truly loved her experience at Prosper. She has relished the opportunity to be a part of opening a brand-new hospital. She contributed to the organization of hospital departments and helped figure out staffing and roles. She says that being part of some of the first research initiatives at Prosper and building something from the ground has been incredibly cool and rewarding, even throughout all of the roadblocks.

Rebecca is driven by her patients, a fact evident in each of her interactions. She is dedicated and passionate about what she does. Congratulations on this very well-deserved award!

Cook Children’s Neuroscience Research Center, led by Christos Papadelis, PhD, is the recipient of a $50,000 research grant funded by the National Institutes of Health (NIH) through the National Pediatric Rehabilitation Resource Center, also known as CPROGRESS, for a study mapping the brain’s response to robotic-assisted rehabilitation in children with unilateral cerebral palsy.

“We are one of very few centers in the United States mapping changes in the brain as a result of robotic rehabilitation,” Dr. Papadelis said. “It’s not the rehabilitation by itself or the robotic system by itself, but it's the fact that we try to map the brain’s plasticity or what type of plasticity takes place in the brains of these kids in response to the rehabilitation.”    

Cerebral palsy is one of the most common childhood disorders in the United States. About one in every 345 children in the country have some form of the neurological disorder, which affects movement and muscle coordination. The condition can impact the lower or upper extremities, all four limbs or one side of the body. In any case, physical rehabilitation is crucial to maximizing movement and muscle control.

For children with unilateral cerebral palsy, meaning one side of the body is affected, conventional rehabilitation utilizes constraint-induced movement therapy in which the dominant, unaffected limb is immobilized in order to force the paralytic limb to do all of the work. While effective, children aren’t always cooperative with wearing constraint devices and performing this type of repetitive, or what they might call boring, therapy. 

But kids do like video games. As digital natives, they have never known a smart device they couldn’t navigate. For this reason, robotic therapy is emerging as an important rehabilitation tool for children. The digital nature of the bot captures their attention and speaks a language they understand. 

While researchers know robot-assisted rehabilitation has its benefits, there is a lot they still do not know about the application of this type of therapy in the pediatric population.

“There's not much research on how robotics help children with cerebral palsy,” Dr. Papadelis said. “We don’t yet have a gold standard on how much treatment, how many days and how intense it should be in order to have successful outcomes. We want the brain to reorganize based on the rehabilitation, but can this kind of mapping be maladaptive and go in a direction we don’t want it to go?”

Thanks to the NIH grant, Cook Children’s Neuroscience Research Center is studying the use of robot-assisted rehabilitation for children with unilateral cerebral palsy in order to address these uncertainties and establish best practices. 

The robot used is akin to a video gaming system. Using the fingers and hand of the impacted limb, patients manipulate a type of sensor-based robotic joystick while playing a video game generated by the robot’s computer system. The system measures functions such as range of motion, spasticity and strength in order to tailor the interactive video games to the patient and increase engagement. It also uses vibrations to stimulate the patient’s motor sensories.  

“There's a hypothesis that the more information we provide to the somatosensory system in the brain, the better the motor responses,” Dr. Papadelis explained.

While interacting with the robot, patients also undergo an electroencephalography (EEG) study where dozens of electrodes are placed on the scalp to measure the electrical activity of the brain. 

“Using this tool, we are able to map changes in the brain as a result of this rehabilitation. It tells us if the parameters of the treatment are sufficient, or if we need more intense treatment, less intense treatment and whether this type of treatment is beneficial for one child or for all kids,” Dr. Papadelis said. “Kids with cerebral palsy all have different underlying etiologies. For example, some kids have cerebral palsy as a result of stroke. Some as a result of infection or hemorrhage. Because cerebral palsy is an umbrella term, we're trying to understand if this treatment is beneficial and for which group of patients. And, if it's beneficial for this group of patients, how much we should provide them in terms of treatment length.”

Sadra Shahdadian, PhD, a postdoctoral research fellow under Dr. Papadelis’ supervision, serves as co-principal investigator for the study. Drs. Papadelis and Shahdadian hope that at the completion of this one-year grant cycle the research team will have collected enough preliminary data to support their hypothesis and better define the use of robot-assisted rehabilitation in children with cerebral palsy. They also hope their work leads to a larger NIH grant or philanthropic support for a more in-depth and long-term study of pediatric robotic therapy. 

Two Cook Children’s patients underwent gene-editing therapy for sickle cell disease (SCD) in 2024 through a clinical trial. The goal was to alter their DNA so that they start producing more fetal hemoglobin, which carries oxygen more efficiently than the misshapen red blood cells of a person with SCD.

One of the participants in that clinical trial, Ashlynn Malone of Little Elm, no longer experiences SCD pain since receiving a transplant of her edited stem cells at Cook Children’s Medical Center – Fort Worth in July 2024.

Before the transplant, Ashlynn often ended up in the hospital with a severe pain crisis. She had to be careful not to overexert herself, which tended to trigger the pain flare-ups. The severity of Ashlynn’s SCD made her a candidate for the RUBY Trial.

Thanks to that therapy last year at age 19, she’s now able to work, exercise and explore her passion for travel. Gene editing didn’t technically cure her disorder – but it has stopped the cycle of frequent pain episodes that was limiting her lifestyle.

“I can enjoy my 20s without having to worry about my health so much,” Ashlynn said. “I feel like my chains have finally been broken, and I get to do all the things I want to do.”  

An estimated 100,000 people in the United States have SCD, an inherited disorder in which red blood cells bend into a sickle shape, like the curve of a crescent moon. SCD causes pain, anemia, organ damage and other complications when those sickled cells tangle up in the blood vessels.

Cook Children’s hematologist Clarissa Johnson, M.D.  leads the Sickle Cell Program at Cook Children’s, which offers diagnosis, treatment, stroke screening, clinical trials and more.  

“It’s been encouraging in the last several years to see a lot more treatments that we can offer,” Dr. Johnson said. “Gene editing is a great example of how progress in science can improve the lives of patients. It’s also a great example of how the willingness to participate in clinical trials can help advance the field, because there had to be someone who said ‘I’m willing to try this’ when it was still very much an unknown.”

The RUBY Trial measured the safety and effectiveness of the experimental technology for editing genes of patients with SCD. Participants had their stem cells collected and sent to a lab on the East Coast, where the therapy manufacturer made tweaks to the cell composition. The next step was chemotherapy to make room for the body to receive the new cells. Then the participants received an infusion of their own cells edited to produce fetal hemoglobin – and healthier blood as a result. 

Departments across Cook Children’s played a role in the RUBY Trial, now concluded. The effort involved the research, apheresis, radiology, lab, pharmacy and hematology departments, along with the stem cell transplant physicians and team.

“Cook Children's involvement in the RUBY Trial has opened new horizons for gene editing therapy, offering hope and transformative possibilities for patients with sickle cell disease at our institution,” said Meg Moffer, coordinator of the Cellular Immunotherapy Program.

Dr. Johnson said gene-editing therapy is an exciting development that inspires hope for the future in SCD care. Every clinical trial involves risk along with the potential benefit, she pointed out.

“This has been a life-altering experience for the people who went through this clinical trial. I think they are pioneers to have the bravery to do that,” Dr. Johnson said. “As the clinician, I’m not the one who has to do the treatment. I can give the information, give the advice and encouragement, but they still have to be the person to say, ‘I’m going to give this a try.’

“To me that’s very brave, and I’m always very happy when someone takes that chance and the outcome for them is really good, which it has been for our patients.”

Ashlynn wanted to share her story as a tool to help educate the public about SCD. She urged patients to find out more about gene-editing treatment options.

“Do your research and look into it. It could be right for you. I’m happy that I went through with it,” she said. “I hope my experiences and journey through this treatment can help light up the way for other people who suffer from sickle cell.”  

RELATED STORIES
Stopping the Pain: Genetic Therapy Treats Sickle Cell Disease
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Just a few years earlier, orphan trains rumbled through Texas towns, carrying vulnerable children westward seeking new homes and opportunities. In Fort Worth, amidst the challenges of a growing frontier town, individuals and families opened their hearts and homes to these children. Some specifically chose to take in the sickest among them, the ones with special needs, or those whom others might have overlooked. It was a poignant time in the nation’s history, but that legacy of compassion would soon inspire a new kind of home for vulnerable children—a place devoted to healing and to a Promise to improve the health and well-being of all children in its care and communities.

A lot has changed in a century. Orphan trains are a thing of the past, replaced with child welfare services that aim to keep children safe and families together if possible. Camp Bowie is now a boulevard bridging history and commerce; the Stockyards are an entertainment hotspot showcasing cowboy culture; and Fort Worth’s population is nearing 1 million, making it the 12th largest city in the country.

But one thing remains the same. The spirit of embracing the vulnerable and offering hope to those most in need still runs deep in the heart of this community. Through all of Cowtown’s transformations, Cook Children’s has risen to meet the needs of the moment—expanding its campus, evolving its technological capabilities, and adding services to improve the health and well-being of all children in its care.

Today, Cook Children’s begins a new chapter in its 107-year history of hope and healing by breaking ground on the site that will soon see the rise of a new 760,000-square-foot patient care tower, currently referred to as the West Tower.

“About 59 people move to this area every day,” said Stan Davis, president of Cook Children’s Medical Center – Fort Worth. “To keep pace with this unprecedented growth, we must also expand. This isn't just about getting bigger. It's about ensuring we can continue to be that steadfast home for every child who needs us. It's about equipping our exceptional doctors and nurses with the leading-edge tools they need, providing a comforting space for our tiniest patients, and offering a sanctuary for our sickest children.”

Expanding the Blue Peaks
The addition of the West Tower will enhance Cook Children’s Heart Center, already home to the nation’s top pediatric cardiologists and cardiovascular surgeons. The growth, which includes two new dedicated cardiovascular operating rooms, paves the way for Cook Children’s surgeons to perform life-saving heart transplants.

The West Tower also makes way for the expansion and redesign of Cook Children’s Pediatric Intensive Care Unit (PICU). Designs for the new PICU focus on two key elements for supporting healing and improving the patient and family experience—sunlight and privacy.

Over the past decade, studies have shown that a lack of natural light and loud environment can increase the risk for what doctors call ICU delirium, according to Kyle Brown, M.D., PICU co-medical director. It is a common occurrence in intensive care settings, especially those like Cook Children’s current 20-year-old PICU where there are few private rooms and natural light is hard to find.

“Some kids that come into the ICU after a serious injury are thinking clearly and know 100% where they are and who their family is. Mentally, they are their usual selves,” said Linda Thompson, M.D., co-medical director of Cook Children’s PICU. “Then, with a few days of not sleeping well, with pain medicine on top of that, and being stuck in bed, they can start to get confused. They don’t recognize people as well and they can start to see things that aren’t there. This is considered ICU delirium.”

One Patient’s Experience
For former PICU patient Emerson Bellucci, it only took 24 hours for the delirium to set in.

In 2024, Emerson spent 36 days in Cook Children’s PICU following a rare and life-threatening allergic reaction to the common antibiotic Bactrim. The reaction damaged her lungs so severely she required life-support via extracorporeal membrane oxygenation, or ECMO. It is the most advanced form of life support available. Essentially, an external artificial lung. A pioneer in her own right, Emerson was one of very few patients to remain awake and even walk around while on ECMO. Most are fully sedated during this life-supporting treatment.

In the initial days of Emerson’s PICU stay, she and her family shared space with 42 others healing from severe and traumatic injuries and illnesses. In her case, Emerson was separated from neighboring patients only by a curtain. The sights and sounds of every other patient’s monitors, machines, televisions, and even the cries of an infant patient, often interrupted her sleep and added to her own anxiety about her illness. The lack of natural light caused her to confuse her days and nights.

“There were no windows to notice it was night and we were supposed to be sleeping,” said Ashlee Bellucci, Emerson’s mom. “I think that was the beginning of her delirium that really set her pattern to where she was up a lot at night. As a mom, you’re up with her, too. So it was hard.” 

Despite the best efforts of Cook Children’s PICU staff to institute daytime quiet hours for napping, simulate nighttime hours with low light settings, and minimize disruption while caring for a neighboring patient, the scenario described by Dr. Thompson and experienced by Emerson happens over and over again.

“When we have increased delirium, that increases the length of time that patients spend in the ICU and the length of time that they spend in the hospital,” Dr. Brown said. “It also leads to what we now call post-intensive care syndrome, which is something that both patients and families can experience after they leave the ICU. This includes things like PTSD and anxiety.”

Once Emerson was placed on ECMO, she was moved to a more private, enclosed space in the current PICU. While it had a small window that helped regulate her sleep, it did not have a private bathroom. Emerson’s parents still had to trek to the family waiting area for showers and restroom breaks.

“Having to walk down the halls in my pajamas to the bathroom was very inconvenient,” Ashlee said. “But I think one of the hardest things was shower time. Her dad and I had to plan showers around when doctors would be visiting so that we could be sure one of us was there. I felt like a college kid in a dorm taking all my things, and having to go down and sometimes wait for a shower. Inevitably, you would forget something.”

The design of the new PICU aims to change that.

“Instead of making families feel like they're coming into our place, we need a way to make it feel more like home for them and more like we're actually entering their space,” Dr. Brown said. “That's really what creates a more healing environment for the patient and family,” Dr. Brown said.

Hope Lights the Way
In the redesigned PICU, every patient will have a fully enclosed private room with a window, as well as a private bathroom. A sliding glass door with a curtain for privacy will shield patients from the sights and sounds of their neighbors’ care and machines, while allowing the medical team to keep a close eye on their patients. Quiet sleep will go uninterrupted by the commotion of a middle-of-the-night admission of a new neighboring patient. Parents and young patients can focus on their own healing without the added trauma of witnessing the circumstances of others. When the sun rises, patient rooms will be drenched with natural light, awakening their souls to the hope of a new day.

“I think the first time I noticed the little window it just reminded me of outside and that I won't be stuck here forever,” Emerson said about the more private ICU space she was moved to while on ECMO. “Having a window definitely increased your mood. Having sunlight is just like a happy thing.”

New Frontiers
The West Tower will be a place where Cook Children’s charts new frontiers in medical research, ensuring that every step forward in patient care is informed by the rigorous pursuit of knowledge. While Cook Children’s already has 300 open clinical trials, as well as 500 ongoing studies, the expansion of services like Cardiology and Pediatric Intensive Care opens new doors for even more research that advances medicine and shapes the quality of care.

Take cancer treatment, for example. Over the past 50 years, research-driven protocols have decreased the five-year mortality for Acute Lymphoblastic Leukemia—the most common pediatric cancer— from 80% to 5%, according to a 2021 article published in the Journal of Clinical Medicine.

“The centers that do research have higher, better quality numbers than the centers that don’t," said William Stigall, M.D., Cook Children’s chief research officer. “Research is one of those things that make you better at everything, and the robust space and technological capacity of the new tower will give us the capacity to do even more.”

Design Through the Eyes of Others
Planning and design of the West Tower is a collaborative effort between staff, patients and the design and construction teams.

“We have thought long and hard about what is important to us and our patients,” said Melodie Davis, DNP, RN, CENP, Director of PICU, ECMO and Dialysis at Cook Children’s. “For several months we have gathered input from our team and our patients. Bringing together evidence from literature on how PICUs can create healing environments with our lived experiences and collaborating with the construction team is truly a dream come true. Our patients, their families, and our staff have so much to look forward to.”

Today, Emerson and her family joined Cook Children’s executives, members of the board of directors, city officials and community supporters to turn the first shovels of dirt on the site of the future West Tower. Construction is expected to take five years.

“This groundbreaking of the West Tower is not just the laying of concrete and steel. It is a powerful continuation of the pioneering spirit,” said Rick Merrill, president and CEO of Cook Children’s Health Care System. “It is a tangible manifestation of our enduring commitment to the future, a bold step driven by the same courage and vision that defined Fort Worth from its earliest days.”

Fast Facts

• The West Tower will seamlessly integrate with the existing medical center floor by floor.
• The services/units moving to the West Tower will make way for the expansion of Hematology/Oncology as well as the Neonatal Intensive Care Unit, which will grow from 106 beds to 143.
• The Heart Center will gain two new operating rooms, a third cardiac catheterization laboratory for advanced diagnostics and interventions, 14 additional cardiovascular intensive care beds, as well as a new Step-down Unit for transitioning care as heart patients heal. All Heart Center inpatient services will be conveniently located on one floor in the new tower, from procedure prep spaces, to operating rooms and special procedure areas, to the Cardiovascular ICU and Step-down Unit.
• In addition to the Cardiovascular Operating Rooms, the West Tower will house eight new operating rooms. Two will be specifically equipped for Orthopedic surgery and two for Neurosurgery.
• The redesigned PICU will feature 56 private patient rooms with private bathrooms.
• Anticipating future growth, shell space will be included in the build.

Nearly 500,000 children nationwide have epilepsy. For 70% of them, medication successfully controls their seizures. But for 30% of children with epilepsy, medications fail to control seizure activity, making them candidates for surgical intervention.

“For kids whose seizures can’t be controlled with anti-seizure medication, this is a huge burden for the family and the children,” Dr. Papadelis said. “Sometimes these kids have several seizures per day. Often, the best available treatment for them is brain surgery where the neurosurgeon dissects the area of the brain where the seizures originate. If we successfully disable this area, either with laser ablation or with resective or disconnective surgery, we are able to control the seizures and the child can become seizure-free.”

Critical Precision

For successful brain surgery with minimal complications, precise brain and seizure mapping is crucial to interrupting seizures while also preserving crucial physiological functions of the brain, such as language and movement. In many cases, current techniques in brain mapping for seizure localization can precisely pinpoint where seizure activity originates in the brain, known as the epileptogenic zone. These techniques include electroencephalography (EEG), computed tomography (CT) and magnetic resonance imaging (MRI), as well as other modalities.

But not all seizures have a single point of origin. Some seizures originate from a synchronized network of abnormal electrical activity in the brain. In these cases, one test may point to one location for seizure origin, while another localizes a different area of the brain as the culprit.

“There are several new studies, including ones published by my research teams, that show in these cases it's not a single area of the brain which is involved in the generation of the seizures but, rather, is the whole brain network that is somehow synchronized during seizures,” Dr. Papadelis explained.

Neurosurgeons can use intracranial-EEG (iEEG) to help identify epileptogenic networks within a patient, but this test also has limitations, one of them being its invasiveness.

“Many children with epilepsy require an invasive surgery in which we implant electrodes directly into the brain to help us better understand where their seizure activity is starting, prior to us offering a more definitive surgery intending to stop the seizures,” said Daniel Hansen, M.D., a Cook Children’s pediatric neurosurgeon and medical director of Neuro-Trauma. “Dr. Papadelis’ research may potentially lead to not needing this step for some children.”

In addition to being invasive, an iEEG only records activity within the area of the brain where the electrodes are placed rather than throughout the entire structure. These testing variations and limitations make it difficult for surgeons to pinpoint the entire zone within the brain where surgery should be performed in order to interrupt the whole of an epileptogenic network.

Seizure-free Future

Dr. Papadelis aims to give neurosurgeons and epileptologists a new method to localize seizure onset more completely.

“A more detailed understanding of seizure networks will allow us to better counsel patients on their true chance of being seizure free after surgery, while also allowing us to be more precise and targeted with our surgeries,” Dr. Hansen said.

Dr. Papadelis’ study will explore the effectiveness and accuracy of combining the outputs of two types of non-invasive imaging and brain mapping techniques as they’re performed simultaneously — magnetoencephalography (MEG) and high-density EEG (HD-EEG). The MEG test measures the magnetic fields produced by the brain’s electrical activity, while the HD-EEG records brain activity using more than 500 closely spaced electrodes placed all over a patient’s head. Such a setup is unique in the country.

In addition to improved seizure mapping and surgical precision, this new technique may also open the door for children whose cases were previously considered inoperable. 

“This type of work potentially helps not only the many difficult cases we currently encounter, but could uncover other cases that would be good surgical candidates, whereas previously they would not have been considered,” said M. Scott Perry, M.D., epileptologist and head of the Jane and John Justin Institute for Mind Health at Cook Children’s. “Take cases of apparent generalized epilepsy, which is essentially epilepsy coming from the whole brain, as an example. In some instances, this is just a more diffuse network that may still be eligible for treatment if we locate the primary hubs.”

The study will begin in March 2024 and continue for five years. Dr. Papadelis and his colleagues believe this new seizure mapping technique will give physicians a better read on the scope of their patient’s epilepsy, giving more children the chance for a seizure-free future.

Grey Gutierrez has a rare genetic disorder that makes his muscles weak, but he doesn’t let Duchenne muscular dystrophy (DMD) keep him off the playground.

The spunky San Antonio 9-year-old uses a wheelchair at school to get from classroom to classroom so that he can save his strength for recess. It’s a strategy – along with physical therapy and medication – that helps Grey keep up with his friends.  

Grey’s battle against DMD includes another tool: Research. In 2019 he enrolled in a clinical trial at Cook Children’s for a medication under development. That trial failed to achieve its goals and the medication was not brought to market.  Grey recently joined a second research study at Cook Children’s.

Worldwide about 20,000 children like Grey are diagnosed with DMD each year. Their bodies don’t produce a protein called dystrophin, which is needed to form and maintain healthy muscles. The disease causes children as young as age 2 to begin having trouble walking or running.  Eventually their heart muscles and breathing break down. But treatments can slow the symptoms.  

Grey’s mom, Marina Teissere, says their family chooses to participate in research despite the possibility of harmful side effects.

“To get medicine to the market takes years. Grey doesn’t have that much time to wait,” she said. “Our best bet is through these clinical trials to get him the medicine before it’s available elsewhere. This is the only way I believe that these kids can get access to it. Otherwise, it’ll be too late.”

Five neuromuscular studies are currently underway at Cook Children’s under the leadership of Stephanie Acord, M.D. and Warren Marks, M.D. Dr. Acord is director of Neurorehabilitation and medical director for the Neuromuscular Medicine and Muscular Dystrophy Association clinics at the Jane and John Justin Neurosciences Center. Dr. Marks is medical director for Movement Disorders.

“It’s patients like Grey and his family that help medicine and treatments continue to advance,” Dr. Acord said. “Without their participation and support, treatment options become stagnant.”

 Seventy-three patients, including Grey, participated in 2023 in the neuromuscular trials at Cook Children’s.  Additional clinical studies are planned for 2024.

Clinical trials nationwide have led to advances that prolong life expectancy and improve quality of life for people with neuromuscular disorders, Dr. Marks said. When patients meet a study’s selection criteria – including genetics, age and other factors – Cook Children’s wants to give them the option to sign up.

“We are trying very hard to offer the latest therapies that are approved as well as promising new therapies that haven’t been released yet, fully understanding that some of them will never come to fruition,” he said. “We think it’s important to at least offer choices to families.”  

Grey comes to Cook Children’s in Fort Worth twice a year to see the neuromuscular experts, as well as respiratory, cardiology and endocrinology specialists. He’s a big fan of Camp MDA, where he went fishing and made pottery last summer alongside other kids with muscle disorders. DMD tires out his body but not his imagination and curiosity. Here’s his journey.  

Determining the Diagnosis

As a baby, Grey was a little slow to roll over and crawl. He hit other developmental milestones such as talking on time. His parents weren’t worried until the teachers at day care noticed Grey had trouble climbing the playground equipment. He tended to drag his right foot. He tripped and fell easily. 

X-rays didn’t show any skeletal problems. Grey was still a toddler; Marina figured that whatever was going on, he would outgrow it.

But at age 4 came a new concern about bowel movements and constipation. His pediatrician in San Antonio ran blood tests. Grey’s level of a liver enzyme, creatine kinase (CK), was extremely high. Injured muscle cells release CK into the blood, and Grey’s elevated level pointed to DMD.

That suspicion led Grey’s family to neurologists in Houston, where the diagnosis was confirmed. He started physical therapy. Meanwhile, Marina searched online and came across a clinical trial Dr. Marks was heading up at Cook Children’s. Grey joined that 2019 study, which explored a medicine designed to reduce or eliminate the need for steroids in DMD cases.

“He had to take three pills three times a day. We needed to make sure he took the medicine right on time and had a lot of high-fat snacks,” she said. “Grey was a trooper.”

Treatment and Another Trial

After that study ended, Grey kept coming to Fort Worth for follow-up appointments because his parents appreciated how the neurology team cared for him during the yearlong clinical trial. What else impressed Marina? That doctors at Cook Children’s are advocates for research.

For ongoing treatment Dr. Marks put Grey on deflazacort, a corticosteroid that reduced the drastic mood swings caused by a previous prescription. Marina thinks deflazacort has slowed down his progressive muscle weakness.

 “The research says it adds maybe three to five years of additional mobility. We’ll take it,” she said. “It means he gets to be that much more mobile for that much longer.”

These days Grey does physical therapy in the gym and swimming pool, along with occupational therapy and recreational therapy through a rehabilitation center in San Antonio. He’s a third-grader with a passion for science, art and animals. Ask him about Camp MDA, and he’ll tell you “it was really fun.” His heart remains strong, and he doesn’t use breathing devices, although it’s tough to cough when he gets sick.

In 2023 Grey started a second clinical study at Cook Children’s. This one analyzes a new medication that aims to preserve and regenerate muscle strength. His parents talked to him about the possible pros and cons. Grey was in favor because he wants more ability to run and less time in the wheelchair.

“It’s taking a risk. But I just think we take that risk, or we do nothing and then it’s too late,” Marina said. “We make sure he knows what’s happening. We make sure that he’s aware of what he’s taking and what it could potentially do or potentially not do, and he seems to be OK.”

More about DMD

Cook Children’s sees about 75 boys with DMD, some from out of state. If a child is toe walking, the family might have consulted an orthopedist first before being referred to neurology for DMD testing. Early diagnosis is helpful, Dr. Marks said.

He applauds the work done by the neuromuscular team at Cook Children’s, which consists of Dr. Acord and Dr. Marks along with Brittney Rhem, M.D.; Marcie Baldwin, RN CPNP; coordinator Megan Batts, RN; Angela Pomykal, PT; and Lindsay Luker, PT at the Motion Analysis Lab.

A new approach to treating DMD became available in June 2023 when the U.S. Food and Drug Administration approved a gene therapy called Elevidys for patients ages 4-5 years old. CRISPR technologies to modify DNA are also being explored. Dr. Marks wants parents to know that treatments will continue to improve as research unlocks the mysteries of neuromuscular disorders.

“When I first started with MDA several decades ago, the messaging was 'The cure’s around the corner.’ The mantra became ‘We just need to keep you stronger until the next thing comes along,’” Dr. Marks said. “Now the cure is closer.”

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

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

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

Like a lot of boys growing up, Dr. Thornton’s interest centered on athletics. He calls himself a “sports fanatic,” playing rugby, cricket, tennis and swimming. As a kid, he played more than studied.

So when Dr. Thornton told his guidance counselor in high school that he wanted to become a doctor, the counselor told the man who would become a world expert in a rare disease that he needed a back-up plan.

What the guidance counselor didn’t understand just yet was that Dr. Thornton’s focus from an early age was on science and medicine. Dr. Thornton saw something in himself that nobody else saw.

“When I said I wanted to be a doctor they told me I should have a backup plan,” Dr. Thornton says now with a twinkle in his eye. “So that was always fascinating to me. I wasn’t the guy people thought was the most intelligent person in the class. Now I’m a world expert in a disease. Once I became a doctor, I realized where my true passion was and I followed it.”

Congenital Hyperinsulinism

Dr. Thornton resides at Cook Children’s as the medical director of the Endocrine and Diabetes Program and the Hyperinsulinism Center. He played a vital role in establishing the first two centers for congenital hyperinsulinism (CHI) in the nation.

His congenital hyperinsulinism program at Cook Children’s celebrates its tenth anniversary this year. The genetic forms of HI affect only between 80 and 120 babies each year. For those affected by the rare condition, it can be a life-changing event. Without an accurate diagnosis, children face living with seizures and permanent brain damage.

The program gives many patients an opportunity for a cure because of the expert staff and the use of an investigational new drug called 18F DOPA in combination with a PET-CT scan to more accurately diagnose and treat HI.

The 18F DOPA/PET-CT scan serves as a diagnostic test that has altered the treatment and even led to cures for children with certain forms of hyperinsulinism. Cook Children’s remains the only facility in the south and the second in the country to use 18F DOPA – an investigational drug – in combination with a PET-CT scan to diagnose focal lesions in children with congenital hyperinsulinism.

Dr. Thornton leads a team of physicians specialized in endocrinology, pediatric surgery, neonatology, neurology, gastroenterology, pathology and radiology. The team is supported by a dedicated HI nurse practitioner, social worker, clinical therapist, child life specialist, nutritionist and feeding and speech therapists.

At the heart of the program is Dr. Thornton, one of the most recognized and respected HI specialists here and around the world.

The Expert

To show what a leader he is in the field, Dr. Thornton’s served as lead author for an article titled “Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants and Children.” This article established the groundwork in creating new screening for physicians to recognize and manage neonates at increased risk for a persistent hypoglycemia disorder.

The guidelines help physicians recognize the symptoms of uncontrolled hypoglycemia caused by CHI who are at risk for seizures or permanent brain damage without early identification and screening.

Dr. Thornton’s recognition as a leader earned him one of the first two endowed chairs at Cook Children’s. He’s a recipient of the Rare Disease Hero award, which recognizes only five physicians each year for groundbreaking research and treatment in the rare disease community.

He’s come a long way from what Dr. Thornton calls his “quirky story.”

Growing Up

Dr. Thornton grew up in a middle-class family in Ireland. His grandfather ran the water department for the government, responsible for water purity for the country. His father did not go to college but rather became a businessman.

Little did Dr. Thornton know how hard his father worked to give his children an opportunity to continue their education.

“I went to a private Catholic school. This is going to sound really strange, but I did not know it was a private school,” Dr. Thornton says while laughing at the thought. “You know in Ireland, everyone wears a school uniform. It’s not like in the States where only private school kids wear one. And it’s not like here, where there’s a private school at every stone’s throw. It just never dawned on me. Later my father said, ‘Do you know how hard we had to work to pay for that school?’”

Maybe it’s that example of hard work that led to Dr. Thornton earning his medical degree by the age of 23, the culmination of a childhood dream.

“It’s funny because there was almost nothing else I ever wanted to be. I knew from the age of 12 that I wanted to be a doctor,” Dr. Thornton said. “I think it was probably because of our family practitioner (Dr. Brendon Deasy). Dr. Deasy was a really good friend of the family, so I got to know him very well. I went to see him professionally every year. I realized that the work of a doctor was a really nice career. You got to meet new people every day. You got to help people. He is probably responsible for showing me what a great job being a physician could be.”

Dr. Thornton went to college without a backup plan. He knew once he got into university and could focus on studying to be a doctor, he would excel.

A Pediatrician

Once his clinical rotations began, Dr. Thornton decided early on that pediatrics was for him.

“When you work with children, they are restorative. You can’t come in grumpy.. You end up having fun doing your day’s work,” Dr. Thornton said. “It never seemed like a lot of fun dealing with adults all the time.”

What did seem like fun was endocrinology. Although his focus came about through a bit of circumstance and travel.

In medical school, Dr. Thornton excelled and “fell in love with learning.” He begins to get noticed too and that eventually led him to Great Ormond Street Hospital (GOSH) for Children, the oldest and one of the most prestigious pediatric hospitals in the world. This job was part of a job exchange with residents from the Children’s Hospital of Philadelphia, so Dr. Thornton headed to the States for a year

Dr. Thornton pauses for a moment thinking about his arrival in the United States.

“I only spent 28 years of growing up in Ireland. I left for England at 28 and came to the U.S. at 29. So actually, I spent less than half my life in Ireland. Wow!”

At CHOP, Dr. Thornton met the mentors who changed his life. He learned about endocrinology and specifically, hypoglycemia. “It didn’t take me long to determine that’s what I want to do with the rest of my life,” he said.

“I was very lucky that I trained at the only place, at the time, that had that sort of hypoglycemia program,” Dr. Thornton added. “So two of the doctors (Lester Baker and Charles Stanley) out of my four attending physicians were the world experts in hypoglycemia. It was just fascinating. The patients we were seeing were very difficult kids to manage.”

At the end of his year commitment, Dr. Thornton planned on returning to England, but CHOP offered him a fellowship to stay. He wrote GOSH a letter that said he wasn’t going back to London.

Returning to Great Ormond Street meant Dr. Thornton couldn’t stay on his new chosen career path. He wanted to learn more about treating children with hypoglycemia. Dr. Thornton did return to Ireland from 1996-1999 but eventually went back to CHOP where he remained until 2002 when he got a call from a recruiter.

Welcome to Cook Children’s

Dr. Thornton admits now he’d never heard of Cook Children’s or even Fort Worth when approached about a new job. He turned the recruiter down. Then a few months later, Dr. Thornton presented a paper at a Pediatric Society meeting. The recruiter showed up to hear him speak and invited Dr. Thornton to breakfast for one final pitch.

The recruiter showed Dr. Thornton pictures of the medical center and information about the institution. They ended up talking for four hours.

Following a trip to Fort Worth and a visit to Cook Children’s, Dr. Thornton accepted the role of medical director of Endocrinology.

“Now I still had so much to do. When I got here there were only two doctors. The waiting time was something like nine months,” Dr. Thornton said. “We had to do a lot of work to get the place how I wanted it. Everyone was good people and everyone was working hard. They just needed new leadership and some organization. So the first two or three years was building the program, hiring nurse practitioners and doctors. I focused on the organizational things and developing protocols.”

Soon, the department blossomed and Dr. Thornton became very busy not only as an administrator but seeing patients. However, something remained that lurked in the back of his mind since his arrival at Cook Children’s.

“I reached a position where I had time to think about my future here in Cook Children’s, ‘I had a skillset and focus on hypoglycemia and congenital hyperinsulinism (CHI). I decided to approach the hospital and say, ‘I'd like to set up a new hyperinsulinism center and develop a surgical program for the babies with HI.’ We wrote a proposal and it was like ‘Boom!’ They said, ‘yes.’”

Building a Program

After helping to launch the first such program in the nation, Dr. Thornton knew what he wanted when he began the second one at Cook Children’s. He brought a nurse coordinator/ nurse practitioner, Lisa Truong, CPNP-AC, to help him with the day-to-day operations.

“When Dr. Thornton asked me to join, I was very excited. It was a challenge to build a program from scratch. Ten years later, it’s still a challenge but I love it. All the kids we see are completely different because it’s such a rare condition. No kids present the same, which I like because it keeps me on my toes. I have learned so much from Dr. Thornton throughout these 10 years. He is an awesome boss and a great mentor."

Over the next three to five years, the program continued to grow and build. Cook Children’s showed their support for the program by naming Dr. Thornton one of the first two endowed chairs in the history of the program. Everything clicked.

Even after all this time, nothing thrills Dr. Thornton more to give good news to the families he treats. He continues to carry on a tradition of taking pictures with his families and marvels at their excitement when things go well.

“They realize that ramifications of what life means for them now that their child’s cured,” Dr. Thornton said. “A lot of these families don’t understand what it will mean to their life until it happens. And then it’s a big shock when they get home and realize, ‘Oh my God, I don’t have to check on my baby’s blood sugar eight or 10 times a day. The difference is so huge. You can just see how very happy the family is when there’s a cure.”

If only that guidance counselor could see him now.

Effectiveness/General Use

Do they really work or is it a mind over matter thing?

I think that there are probably some uses for oils that will be studied and proven to work. I think these will be pretty rare and only a small fraction of the claims that are currently made.

So, is it mind of matter (placebo)? Here are some of the most common uses I see for oils in kids:

Teething - It’s not even clear what symptoms teething causes …fussiness, fever, runny nose, etc have all come into question. But, if you give an oil and a symptom goes away, does that mean the oil fixed it? Not likely.

Fever - Fevers come and go during the day with illness, even without medication.

Cough/congestion - The regimens I see where children have oils placed frequently basically make it impossible to know if they do anything for these symptoms. Cough/congestion will be worse at certain times of day and better at others treatment or no.

How close are we to having actual research on the use of oils?

I still think we are quite some time away. Those that are currently doing research are often biased, are not doing high-quality studies and are using small sample sizes.

Marketing

Why are they sold through multi-level marketing (MLM)?

It’s a fast way to get a product out there and make a lot of money. Since I’ve been on social media, I’ve seen several of these types of MLM ideas crop up. The difference with these is I have some specific knowledge about the conditions they are being used for and specific concerns about how their use could harm a population of people that I care very much about. I know very little about bags and good smelling wax that can be melted with a light-bulb so I haven’t gotten involved until now.

In many ways, it protects the big company because they are not the ones out there making claims about the oils and what they can do. That falls to their independent distributors. If someone were to have a bad outcome because of their use of essential oils, who is responsible? If I prescribe a medicine that someone is allergic to, that responsibility falls squarely on my shoulders, not the makers of amoxicillin. If I prescribe the wrong medicine for a kids asthma and something bad happens, that responsibility falls to me.

Are they an increasingly popular trend or just something I was not aware of?

I’m not sure but it certainly does feel like they are gaining in popularity. Social media makes it seem that way at least.

Do you believe the claim that certain brands of oils are superior to others?

I’m sure there are differences but since we don’t even know what they do for the most part, it’s hard to answer this question.

Philosophy/Opinion

Regarding writing about essential oils: Are you mad, man?

Yes, in fact, I think I must be.

What’s the number one reason you see parents using oils instead of medicine?

In general, people are becoming less trusting of experts and organized institutions. Medicine and doctors are no different. The gap between what a doctor knows and what patients know shrinks every day. People can find out information about their conditions and know basically the treatment options that exist. People are looking to live more natural lives and most who use them feel that oils fit within that idea. When you combine these two issues, right or wrong, essential oils seem to step in the gap.

What is a good way to communicate with your doctor about your use of essential oils (for specific conditions and generally)?

I think it’s important to be honest with you doctor about your use of essential oils. As new information is uncovered it would be important for your doctor to be able to show you new research etc, especially if something shows a particular oil to be unsafe. They can only do this if they know about your use of them. Also, as doctors are prescribing medications, we need to know anything you might be on that could cause a drug interaction.

What is your take on the potential political barriers to the study of essential oils given that they are not backed by super profitable pharmaceutical companies?

Young Living is a very profitable company. They are big and profitable and will only continue to be more profitable. There is no reason that they could not start testing their own products or set up independent testing.

After your research as a pediatrician, would you use them on your children?

People will read all of this information or even do further research and come to different conclusions from me but here are two reasons I won’t:

1. I do not treat my kids with unnecessary medications. Since they are recommended for symptoms and given with the hopes of reliving those symptoms, I consider these oils to be medication.

2. I believe that, due to the lack of good studies, the use of them in children should be considered experimental at this point.

Summary

• The use of essential oils seems to be growing.
• The evidence for their use in children is slim.
• Talk with your doctor about the products you are using so that they can be aware of potential safety issues and medication interactions. 

Previous articles on this topic:

• New York Times Report: Are Essential Oils Safe For Kids?
• Essential oils and their use on children
• How safe are essential oils for children?

Fenfluramine was originally used as a weight-loss drug before being pulled from the market in 1997 with reports that it caused severe damage to the heart.

Now being used at lower dosages, clinical trials in the United States, Canada and Europe have found the drug to be highly effective in the treatment of seizures in Dravet syndrome.

The results from the randomized, double-blind, placebo controlled phase 3 trial of Zogenix ZX008 (previously known as fenfluramine) showed it to be effective in the treatment of seizures in Dravet syndrome. Dravet syndrome is a rare, devastating epilepsy syndrome of childhood presenting with multiple seizures types, often resistant to most antiepileptic drugs (AEDs).

The most recent study included 119 patients between the ages of 2-18 years. After a six-week baseline, patients were randomized to placebo, a lower dose (0.2 mg/kg/d) or a slightly higher dose (0.8mg/kg/d) group added to their existing AEDs, which remained stable throughout the study.

Seventy percent of patients had a greater than 50-percent reduction in convulsive seizures in the high dose, 41 percent in the low and only 7.5 percent in placebo. Forty-five percent of the patients who participated had more than a 75-percent reduction in the high dose, 20.5 percent in the low, and 2.5 percent in the placebo. Finally, the high dose group experienced 20.5 days of seizure freedom as the longest median duration, 14 days in the low dose and only 9 in placebo.

This is intriguing news locally because Scott Perry, M.D., an epileptologist and medical director of the John and Jane Justin Neurosciences Center at Cook Children’s, is leading a second similar study at Cook Children's.

Currently, six patients are participating in the study at Cook Children's and the study remains open for enrollment. The study is open to children with Dravet syndrome with seizures uncontrolled on current AEDs.

"A number of inclusion/exclusion criteria are required to be selected for the trial. Patients may not be using cannabidiol (CBD) and they can’t have preexisting cardiac abnormalities because of past cardiac valve problems with the drug used as a diet pill," Dr. Perry said. "Based on the early open label results published from Belgium which prompted this present study, I’m quite excited. I’m pleasantly surprised that the results of this blinded/controlled trial were very favorable, much like the early open label results suggested. These children have a catastrophic form of epilepsy for which seizure control is very unlikely. This drug has demonstrated significant reduction in seizures which would be considered successful in any epilepsy syndrome. The results are that much more impressive given the difficulty these patients have in gaining seizure control.”

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About Our Epilepsy Surgery Center

Cook Children's is a recognized Level 4 epilepsy center. 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 to learn more.

Megan and her brother Patrick battle Pompe disease, a rare neuromuscular disorder. Her father has spent nearly two decades raising money to fund research for drugs to fight Pompe. A story told in the movie, “Extraordinary Measures.”

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

For more than a decade, Cook Children’s has been involved with research for Pompe disease. Testing and treatment are available at the medical center. Treatment involves frequent intravenous infusions of enzyme replacement (Lumizyme). Enzyme replacement can slow the progression of the disease, as it has in many Cook Children’s patients.

Alglucosidase alfa was an approved drug indicated for use in patients with Pompe disease and marketed in the United States as Lumizyme and as Myozyme. Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control.

The drugs used for treatment for Pompe, like most of experimental medications under research at Cook Children’s, were pursued because our physicians wanted the capability to treat their patients in the best way possible. Most of the time, they weren’t opening a trial and then looking for patients to participate. They sought out the medication that would make a difference for their patients.

What is an experimental drug?

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 importantance of 'informed consent'

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 investigations. 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.”

Related Article:

​Inspiring story sheds light on Pompe disease

More about Clinical Research at Cook Children's

At Cook Children's, we believe that all children deserve the best treatment strategies available to manage their illness and maintain good health. Our research environment applies leading-edge scientific knowledge, technology and evidence-based practice to improve quality care outcomes for children. Click here to learn more.

Facing these devastating complications, parents are desperately seeking a treatment for their children. Imagine the relief of being part of a life-changing study using an experimental combination of ledipasvir and sofosbuvir, Harvoni, that has resulted in undetectable levels of the virus in these children.

“This is the most rewarding thing I’ve done in the last 20 years. Hands down,” said Dr. Whitworth, who came to Cook Children’s in 1995 and is the medical director of Infectious Diseases at Cook Children’s. “We have helped these kids. These children who had this infection will now, hopefully, be cured. Ten years ago, we did not think this could happen.”

The research comes at a crucial time. The Centers for Disease Control and Prevention released data last week that states that hepatitis C related deaths reached an all-time high in 2014, more than doubling from 2010. More people have died (2,194 cases reported in 2014) from hepatitis C than 60 other infectious diseases including HIV, pneumococcal disease and tuberculosis.

The CDC says the increase in deaths is frustrating because of the advancement in medications to treat the disease. The increase in deaths includes lack of testing and diagnosis, especially for those using injectable drugs.

Twenty years ago, because of the focus on adults taking injectable drugs, the diagnosis of hepatitis C in children was relatively new. Over the next five years, Dr. Whitworth and staff began to see more and more children diagnosed with the infection. Unfortunately, users of injectable drugs can pass the disease on to their children at birth.

The only way to acquire hepatitis C as a child is at birth or through bloodborne transmission. In the early 2000s, a treatment protocol with two different drugs to try and cure this infection was established.

Over the course of time, the success rate of this regimen was nearly 60 percent but it was associated with numerous side effects.

Then in March 2014, Cook Children’s began participating in a new study. There is great hope that this study will be permanently successful for all of these children.

Because our Infectious Diseases team was proactive, Cook Children’s enrolled two of the 10 teens in the world to participate in the initial trial. Later, they were able to enroll five more patients to fill in available slots.

The trend continued as the study moved to treating younger children, getting three out of the 10 worldwide slots for kids 6 to 11 years. In total, Cook Children’s had more than 15 kids participating in the trial, ranging from age 6 to 17. And so far, the results have been successful.

“I’ve never seen the kind of results to a drug as we’ve seen so far for this infection,” Dr. Whitworth said. “These children, if they are permanently cured, will now have a normal quality of life and be healthy. They can go to school and play sports. When you have cancer, you can brag to the world that you are cured. That’s not the case with hepatitis C because many of these kids don’t want others to know about their diagnosis. Their friends often don’t know. Fortunately, now they may never need to know. “The emotional part for the families is that their viral load is now undetectable. When families hear this, they just break down because they have carried the weight of this infection for so long. They have often been anxious since the child was born and now they don’t have to feel that way anymore.”

"This is our moonshot," Obama said in his address to a joint session of Congress, prompting a bipartisan roar of applause.

At Cook Children's Medical Center, efforts to land on that so-called moon have been underway for more than 35 years. As an active research facility, Cook Children's Hematology and Oncology Center is currently participating in about 90 clinical trials aimed at stomping out childhood cancer and blood disorders. For patients and their families, the research happening at Cook Children's means options for novel and leading-edge therapies are accessible in Fort Worth.

"We diagnose around 180 new cancer patients each year and many others are referred to us for relapsed or advanced therapies," said Gretchen Eames, MD, MPH. "At Cook Children's, the majority of these patients go on to enroll in a clinical trial."

Dr. Eames is the Medical Director of Hematology the Oncology Center at Cook Children's and knows firsthand how important clinical research is not only to patients, but to the medical community.

"Pediatric cancer research has really taken the lead. We've made great advances in survival rates because of our clinical research," she said.

Dr. Eames attributes that lead to a higher percentage of pediatric patients being placed on clinical trials compared to adults and to many biologic studies incorporated in the trials that allow the team to target therapy specifically for the patient's type of cancer. According to a blog post made by Vice President Biden, only 5 percent of adult cancer patients in the U.S. end up in a clinical trial. In contrast, 60 percent of patients under age 29 are enrolled in trials.

"We couldn't do it without collaboration," said Dr. Eames.

Researchers at Cook Children's are active in several nationally known cooperative groups. These groups, including Children's Oncology Group and New Approaches to Neuroblastoma Therapy, work together to develop protocols, increase patient enrollment, and share information, all in hopes of furthering success in treating and curing a variety of childhood cancers. Collaboration among cancer fighters, like this, is one of the two main goals Vice President Biden has announced. His second goal is to increase financial resources.

"The dollars provided by government funding is very limited. We are dependent on community members and foundations to help us raise awareness of the need to continue research efforts," said Dr. Eames. "It takes an army of people and a lot of funding to carry out just one clinical trial. Regardless of what happens, we're going to be dedicated to research."

About the Source 

Gretchen Eames, M.D. MPH, is the Medical Director of The Hematology and Oncology Center and Stem Cell Transplant Program at Cook Children's Medical Center in Fort Worth, Texas.  For more information, visit The Hematology and Oncology Center's website.