Most 18-year-olds are focused on graduation, prom, college, and new beginnings. For Madison “Maddie” Hoffman, the future is bright, and her journey there has required a level of strength most people won’t face in a lifetime. Born with

Diagnosed at birth, Maddie’s family, friends and Cook Children’s care teams have been impressed with her continuous resilience in facing prejudice, bullying, mental health challenges, pain and hospitalizations due to skin infections. Maddie says she feels empowered to raise awareness of skin conditions and rare diseases.

“God has been so good to me and that resilience comes through because my mentality is ‘OK, it could be worse. How can I make it better?” Maddie said. “How can I make somebody else’s life better?”

There are more than 30 distinct types of ichthyosis, which are rare, mostly genetic disorders. The type Maddie has, epidermolytic ichthyosis, occurs in approximately 1 in 200,000 individuals, according to the National Organization for Rare Disorders. Maddie wants to let other children with rare diseases and disabilities know they aren’t alone.

“I can’t change (my condition), so I might as well use my disability as something really powerful,” Maddie said. “Don’t count us out in this world. We will always 1,000% surprise you. We are empowering people. I believe people with rare diseases can change this world. I believe I can change this world.”

Cook Children’s dermatologist, Heather Volkman, D.O., says Maddie’s form of ichthyosis makes her skin barrier very fragile and more susceptible to infections. Imagine if you had an open blister at all times. If Maddie acquires bacteria on her skin, such as methicillin-resistant Staph aureus (MRSA), which can be resistant to many antibiotics, it can be difficult to treat the infection and sometimes require hospitalization for intravenous antibiotics. Her hands and feet are predominantly affected.

“I get frustrated sometimes because of what (bacteria) goes into my body, especially when it comes to infections,” Maddie said. “You just have to remember that you can get through this if you have the right resources, a hospital, and I have my mom. It comes down to your mentality and how you take care of yourself.”

Journey & Resources at Cook Children’s

Maddie graduated from Aledo High School a year early and completed her junior and senior years in three months. She currently works in child care and hopes to become a Child Life Specialist to give back to Cook Children’s and support patients.

“Cook Children’s has definitely given me the resources, the tools and the education,” Maddie said. “I want to give back. The amazing nurses and doctors, Dr. Volkman, have changed my life. They’ve given me this new life I wouldn’t have without Cook Children’s.”

Maddie regularly sees Ear, Nose and Throat (ENT), wound care, infectious disease, pain management and dermatology teams at Cook Children’s.

Patients with rare diseases often face limited access to new medications because clinical trials, which are essential for the Federal Drug Administration to approve a drug and for it to be covered by health insurance, often have small patient populations. Dr. Volkman commends Maddie and her parents for being determined to find new medications to help patients with ichthyosis.

Maddie has faced four to five major skin infections that required hospital stays at Cook Children’s. She had two hospital stays in December 2025.

“I was so defeated because of this infection and it was a hard time for me,” Maddie said. “The nurses and doctors just keep you motivated. They’re so interactive and they truly get to know you. It truly makes a difference.”

Maddie said her favorite moments were seeing the Cook Children’s holiday light display and watching the Cook Children’s Radiothon.

“It’s the holidays and it’s the last place you want to be, but they do the little things like that. It was so cool,” Maddie said.

Maddie’s Mentality

Dr. Volkman says Maddie is a very strong young woman because she faces symptoms like pain and itching, but also quality-of-life issues with having a visual condition. She notes that some people incorrectly believe ichthyosis is contagious, but it is not.

Maddie’s mother, Emily Preston, recalls how it broke her heart when Maddie was bullied as a young girl and in her teenage years.

“People can be so cruel and not inclusive,” Emily said. “I instilled in her, for as long as I can remember, that those are not the kind of people that you want in your life and in your circle.”

Maddie says mental health is not talked about enough, so she is open about her own journey. She relates to other people with disabilities that she meets because it can be isolating to live with a condition or disability.

“I’m learning how to be proud of everything because it’s not something that’s wrong with me,” Maddie said. “I can use this anxiety and depression to inspire other kids or other people because you’re not alone in these battles.”

When Maddie was in elementary school, Cook Children’s Child Life Specialist Kat Davitt visited her school to present a program on ichthyosis to build empathy among classmates, help prevent teasing, and help her feel more confident about returning to school. It also helped educate her classmates about how ichthyosis affected Maddie. All these years later, Emily said it was a game-changer. When Maddie was at Cook Children’s Medical Center - Fort Worth in December, she and her family ran into Davitt.

“Maddie was such a strong child from the beginning and I can remember when we kind of passed the torch and she got comfortable talking about it,” Davitt said. “A school program can give words to the patient themselves. As they grow up, they feel more comfortable talking to their friends. It was lovely to see her and that we were able to give her the support she needed.”

Taking Care of Herself: Skincare Routine

Maddie came into this world fighting -- she was born seven weeks early and her mother says she looked like she was burnt because her skin was extremely red, dry and peeling off. They knew she had ichthyosis. Her care team kept Maddie’s skin hydrated and infection-free until she was ready to go home.

Emily also has ichthyosis. By the time Maddie was in pre-K, kindergarten and elementary school, Maddie’s skincare routine took two hours every morning. As Maddie grew older, Emily empowered her to understand the importance of caring for her skin.

Maddie applies Aquaphor on her face, neck and back in the morning and uses Vaseline at night. Her skin requires constant monitoring because it can change from one hour to the next, and it’s important to note these changes to catch infections as early as possible.

Spreading Awarenes

Maddie wants to help others by raising awareness of this rare condition and what life with it looks like.

Maddie remembers when she realized how rare her condition was and that other kids weren’t at doctor’s appointments all the time. She encourages people to be kind.

“You see other kids getting better and you’re asking God, ‘Why am I not getting better?’ but I am,” Maddie said. “I strongly believe that I’m being used to go out in this world and educate and be that light, because there’s so much darkness in this world.”

Four-year-old Evalyn Scuderi is like any other toddler: she loves Moana, lights, music, swimming and being hugged. Vivacious Evalyn is one of many patients at Cook Children’s born with a rare disease.

She was diagnosed with Trisomy 18, which affects 3 out of every 10,000 live births in the US and is caused by changes to the number or structure of a person’s chromosomes, according to the American Academy of Pediatrics. This causes low birth weight and a small head, mouth, and jaw. Their hands typically form clenched fists with fingers that overlap. They also might have birth defects involving the hips and feet, heart and kidney problems, and intellectual disability. Only about 10-25% of these children are expected to live longer than one year.

Evalyn is defying the odds and enjoying each day as it comes.

“She will wiggle her arms and legs in joy and make the happiest of sounds and just plant the biggest kiss on your face when you pick her up,” her mother, Amber Marie Scuderi said. “It’s humbling, because she is just happy you’re there to love her and for her to love on you!”

Amber Marie says they are living through a changing narrative as a new American Academy of Pediatrics clinical report was released last year for caring for children with Trisomy 18.

“I have learned so much from other parents who have gone before us and now we are blessed to walk with others who go after us to understand what these sweet kids are capable of and how they function,” Amber Marie said.

Amber Marie encourages others to remember that children with Trisomy 18 are more than their diagnosis and that it’s important to help them experience the world around them. Evalyn, described as “adrenaline junkie,” has gone sledding and down water slides, and does everything that her sister does in an adapted way.

“We never know what illness will be her last, BUT we know that when her race is done, we did everything in our power to make sure she went home to LIVE!” Amber Marie said. “So do something meaningful for them now, embrace them for who they are and adapt for them to experience the world around them too! You’re far more capable to do this than you think!"

Meet Máximo

Two-year-old Máximo Sagrero was born with Menkes disease, a rare disorder that often occurs in males. It is caused by a gene mutation that affects how the body transports and maintains copper levels and affects the body. It affects how a child grows and can cause damage to the brain and nervous system. In the US, the incidence of Menkes ranges between one in every 50,000 and one in every 250,000 live births, according to the National Institutes of Health.

“Máximo is not defined by his diagnosis. He’s defined by his resilience, by the love that surrounds him and by the faith that carries us through the hardest days and reminds us that God created him with purpose,” says Máximo’s mother, Katy Sagrero.

Máximo loves playing with his toys, listening to music, looking at colorful lights, playing with his cousins and participating in his therapies. Katy says Máximo has come so far and he has encouraged so many others.

“His first couple of years were scary and I was anxious about everything, unsure if the next illness would be his last!” Katy said. “But God has given us unimaginable peace and strength to persevere and Máximo has overcome more than I could have ever imagined. He’s our little resilient warrior dude, and we are proud of EVERYTHING he does.”

Menkes disease is characterized by coarse, kinky and silver-toned hair. Katy says that Máximo barely had any hair when he was born and she noticed it was brittle and white when it started growing in, which was surprising since she and her husband have dark hair.

“After starting the clinical trial and daily copper injections, his hair began changing from the inside out,” Katy said. “Now he has a full head of thick, dark, kinky hair and it’s the number one thing people comment on. The evolution of his hair from weak and brittle to strong and full really mirrors his journey so far.”

Katy says that early detection is critical and makes a big difference in a child’s trajectory. She says Máximo had experienced seizures before he was diagnosed.

Katy shared her advice for other parents who receive a Menkes diagnosis for their child:

“What honestly felt like a tragedy when my son was diagnosed, has actually been the biggest blessing of my life. My husband and I have grown stronger as a unit, our faith has become deeper and our biggest asset, assuring us that Máximo was given to us intentionally and purposefully. It’s shown us that people are so incredible and Menkes has united our family, friends, church and community in a way I couldn’t have dreamed. Just like us, you will  appreciate the smaller things most take for granted and hopefully realize that God doesn’t make mistakes. He knew exactly what he was doing when He gave us Máximo and He knows exactly what He is doing by giving you your precious Menkes warrior too.”

SOURCES:
Pyle, A. K., George, T. N., Cummings, J. J., & Laventhal, N. T. (2025). Guidance for caring for infants and children with trisomy 13 and trisomy 18: Clinical report. Pediatrics, 156(2). https://doi.org/10.1542/peds.2025-072719

Ramani PK, Parayil Sankaran B. Menkes Disease. [Updated 2023 Nov 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560917/

 Colton was diagnosed with Dravet Syndrome just before he turned one.

 “We didn’t know anything about Dravet,” said Mindi Ragsdale, Colton’s mom.

 As a newborn, Colton passed all screenings, but at just a few months old, he began having seizures lasting up to 20 minutes. The infant was airlifted from his hometown of Hobbs, New Mexico, to Lubbock, where he was diagnosed with epilepsy.

Driven by a mother's intuition, Mindi began researching what was causing the seizures and learned about Dravet syndrome, a rare disease. Dravet is estimated to occur in 1 in 15000. Her pediatrician recommended Cook Children's Medical Center in Fort Worth, one of the largest clinics in the United States specializing in Dravet Syndrome.

 Scott Perry, M.D., head of Neurosciences at the Jane and John Justin Institute for Mind Health at Cook Children’s, explains that Dravet syndrome typically begins in an otherwise healthy child around 6 months old with the onset of seizures.

 “When we went in, it all just fell right into place because Dr. Perry had already treated kiddos with Dravet. It was like it was all meant to be,” recalls Mindi.

 Dr. Perry listened to Mindi and did genetic testing. Dravet syndrome is most often caused by a variant in a gene called SCN1A.

 Colton was admitted to the hospital, where Dr. Perry monitored his seizures. It was Dr. Perry’s demeanor and knowledge that helped put Mindi at ease.

 “He was just so down to earth and just so knowledgeable,” said Mindi.

 Dr. Perry says listening to parents is imperative when trying to find a diagnosis.

 “Every time you see them, it is an opportunity to hear the story from the very beginning to where you are now,” said Dr. Perry. “Sometimes you have to step back and see the whole story.”

 For years, the family traveled from New Mexico to Fort Worth for medical appointments. In 2023, the Ragsdales moved to Fort Worth. They say it changed the family’s life.

 “It’s like we didn’t have to live in a bubble for the first time in five to six years,” said Mindi.

 Going to a new place could trigger a seizure, making the family cautious about outings. Now, just 20 minutes from Cook Children’s Medical Center – Fort Worth, the family has been able to explore new places together.

 “We've learned through the therapies at the school how to help him cope,” explained Mindi.

 At 11 years old, Colton began attending Jo Kelly full-time, a significant milestone for him.

 Jo Kelly School

 Colton begins each day at Jo Kelly by checking his communication schedule. Each picture card visually guides him through his school routine, from washing his hands to reading.

 “I feel my job here is to not only make the students' life better, but to make their home life better,” said Baldacci.

 That impact is already being felt. Colton, who previously communicated primarily through screaming and yelling, now uses an eye-gaze tablet to express himself.

 “If he wants to do more of something, then he can look at that and he can do more of it,” said Mindi.

 Baldacci adds that Colton recently met a communication milestone: He was able to tell her to stop an activity to move on to another.

 “For the first time, he finished and touched [the card] without pushing the whole thing,” said Baldacci.

 Connecting families to resources

 Mindi credits Cook Children's with being a bridge to local resources. She learned about Jo Kelly from another mom while waiting for Colton's appointment.

 “I was asking her about her wheelchair because Colton had a regular wheelchair,” said Mindi.

The wheelchair was provided through Jo Kelly, which led Mindi to begin the enrollment process. The school, which focuses on medically fragile children from ages 3 to 22, has two teachers for three students, a nurse, and three medical assistants on campus. A specialized cafeteria on campus focuses on preparing food based on students' needs.

 “His syndrome is so complex it was important to me to have somebody medically there at all times,” said Mindi.

 It was the reassurance she needed, and Dr. Perry encouraged her to enroll Colton.

 "It's not just my job to help pick the right medicines and treatments, but when they need these services, they need somebody generally to advocate for why the service is a value to them and how it's going to help them," Dr. Perry said.

 The Ragsdales say their move has been a night-and-day change. Enjoying making memories as a family, Mindi shared that Colton had his first photo with Santa, an opportunity the school set up for the students.

 It was a small moment that meant a lot.

 “When we would have been doing that type of stuff, we were fighting his seizures and all of his medical issues,” shared Mindi.

Students have a routine that includes reading, circle time, time on the handicap-accessible playground, cooking class, and time in the sensory room.

"It's really neat that Jo Kelly tries to make it as normal as possible," Mindi said. "Even though their lives are so far from normal, they still try to incorporate all that."

Greyson’s diagnostic odyssey began just five days after he was born when his pediatrician sent him to the Cook Children’s Emergency Department.

“We were admitted into the NICU, where Greyson spent the next six weeks,” said Sarah Pathipphanith, Greyson’s mother. “There we discovered he had a host of problems including low muscle tone, apnea and dysphagia. We met many of our current doctors during that stay.”

Every rare disease has unique characteristics, but they sometimes share similar symptoms. This is where genetic testing comes in handy.

“PURA Syndrome can be characterized as a neurodevelopmental condition where individuals who are affected typically have global developmental delays, intellectual disabilities and difficulties with expressive language,” said Candace Gamble, M.D., medical director of the Cook Children’s Genetics Center. “The hard part in the beginning is that these symptoms are present with many other genetic conditions, so we used a type of genetic testing called whole exome sequencing to identify genetic variations and rule out other diagnoses to discover the super rare.”

Once the genetics team uncovered Greyson’s diagnosis, they guided his family through the results and connected them with other families in the community who have children with similar diagnoses. Now, he regularly sees a variety of Cook Children’s specialists: genetics, neurology, pulmonology, orthopedics and the Child Study Center.

“We felt very relieved to have answers and a framework for Greyson’s future treatments,” Pathipphanith said.

Despite his diagnosis, Greyson knows happiness and humor. His mother says he lights up every room with his sweet smile, big eyes and contagious chuckle.

“He loves to clap and play instruments when listening to music,” Pathipphanith said. “He likes to go on walks with his gait trainer and is very determined to explore his world!”

Dr. Gamble says Greyson will write the story of what PURA syndrome means for him.

“We’ll adjust to his needs,” Dr. Gamble said. “What makes us unique at Cook Children’s is that we serve as an advocate as we follow each patient along their health care journey. We can’t cure their genetic condition, but we work to make their lives better.”

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

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

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

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

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

How have you seen research into these conditions change treatment?

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

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

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

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

Why is it important to study rare diseases?

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

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

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

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