Diagnosed with Hurler-Scheie syndrome at just 10 years old, Rylee hasn’t had an easy journey, but her strength and positive attitude have never wavered through it all.
Early signs and diagnosis
Rylee’s mother, Jamie, recalls when it all began: "Around the age of 5 or 6, I noticed Rylee wasn’t as flexible as other kids. Her muscles wouldn’t stretch fully, and she struggled to straighten her arms and legs."
Initially, doctors in Corpus Christi suspected a muscular issue and referred her to physical therapy. As Rylee's physical therapist noticed her symptoms—curled fingers and an inability to fully extend her limbs—it became clear the issue was more than just muscular.
"Her physical therapist told us, ‘This isn’t muscle; it’s something genetic,’ and advised us to see a geneticist,” said Jamie.
The journey led the family to medical geneticists affiliated with Children's Memorial Hermann Hospital in Houston. After a thorough assessment, Rylee was evaluated for a suspected diagnosis of a mucopolysaccharidosis. In January 2019, she was diagnosed with Hurler-Scheie syndrome, also known as Mucopolysaccharidosis Type I (MPS Type I), by Hope Northrup, MD, a pediatric medical geneticist affiliated with Children’s Memorial Hermann Hospital. This rare genetic disorder, caused by a deficiency of the enzyme alpha-L-iduronidase, affects the entire body, leading to progressive damage to tissues and organs.
"It was devastating to get that news," Jamie recalls. "But it also brought some relief to finally have answers."
Multidisciplinary care and heart surgery
Since Hurler syndrome affects multiple organ systems, Rylee’s care has been multidisciplinary from the start. She has been receiving enzyme replacement therapy (ERT) to manage the buildup of harmful substances in her body, which involves weekly infusions managed by an infusion center in her hometown. Riley’s ERT and care is currently coordinated by Paul Hillman MD, PhD, a medical geneticist affiliated with Children’s Memorial Herman Hospital, who directs a center for patients with Lysosomal Storage Disorders.
Enzyme replacement therapy delivers the missing enzyme through an IV port, helping to break down the sugar molecules that accumulate in tissues and organs. Without this enzyme, the sugars build up and cause damage. The effects of each infusion typically lasts five to seven days, depending on the severity of the condition. When Riley’s treatment started, she had to travel to Children’s Memorial Hermann Hospital in the Texas Medical Center to receive care.
"We did this once a week for six months,” said Jamie. “Every week, she had 6-hour infusions to receive the enzyme her body can’t make on its own. It was a long process, but it kept her going."
Rylee also developed a heart complication common in patients with MPS I. A pediatric cardiologist affiliated with Children’s Memorial Hermann Hospital discovered that her mitral valve was thickened and leaking. The cardiologist monitored her with heart ultrasounds and prescribed Lasix to improve her symptoms, but thickening of her mitral valve worsened and she developed severe mitral valve regurgitation.
By age 15, doctors confirmed Rylee needed open-heart surgery.
Heart valve abnormalities can occur in individuals with Hurler syndrome, potentially leading to heart failure. In Rylee's case, the regurgitation worsened, requiring her medical team to explore surgical options to prevent further complications and improve her symptoms. Rylee’s cardiovascular team collaborated to determine the next steps.
On May 14, 2024, Rylee underwent mitral valve replacement surgery led by a team of affiliated specialists, including Christopher Greenleaf, MD, a cardiothoracic surgeon with Children’s Heart Institute at Children’s Memorial Hermann Hospital and Damien LaPar, MD, the Chief of Pediatric and Congenital Heart Surgery at the Children’s Heart Institute. Given Rylee’s unique case, the pediatric heart team decided to test whether an adult heart valve could be used to improve her heart function.
“Rylee’s condition presented unique challenges due to her underlying genetic disorder,” said Dr. Greenleaf. “Using an adult valve in a patient her size is not typical, but in this case, it was necessary to ensure the long-term functionality of her heart. The goal was to improve her quality of life and give her heart the strength it needs to support her overall health.”
“Rylee was 15 years old at the time, and she is 4 feet 8 inches tall but genetically she is not growing anymore,” said Jamie. “So genetically, she is a full adult. After surgery, she recovered in the Pediatric Heart Intensive Care Unit. Two days later, she was up and walking. It was incredible to see her strength.”
Managing a complex condition: Rylee's multidisciplinary care
In addition to her heart surgery, Rylee has undergone several other procedures, as MPS I is a disease affecting multiple organ systems. Over the last five years, she has had right-hand and left-hand carpal tunnel surgery, two knee surgeries and a hernia repair just three weeks before her heart surgery. Kyle Woerner, MD, her affiliated hand surgeon performed both of her carpal tunnel procedures.
Rylee’s care involves a multidisciplinary team of specialists, all affiliated with Children’s Memorial Hermann Hospital, who manage her complex condition through frequent monitoring of her heart, skeletal system and neurological symptoms. In addition to regular cardiology checkups with Dr. Wang- Giuffre, she receives care from Lindsay Crawford, MD, an affiliated pediatric orthopedic surgeon. Rylee follows up with Dr. Crawford and her team every six months to a year due to her scoliosis and spondylolisthesis.
Neurology plays a big role in Rylee's care as well. With the help of Shade Moody, MD, a pediatric neurologist affiliated with Children’s Memorial Hermann Hospital, Rylee manages severe migraines with aura that sometimes cause temporary blindness and even occasional paralysis in her left arm. The exact cause of these symptoms is still unknown. Since Rylee takes a blood thinner for her heart, her pain management has to be carefully monitored because she can’t take ibuprofen. This complex care is managed and coordinated by her affiliated medical geneticist, Dr. Hillman.
“It’s a lot to manage,” said Jamie, “but the team at the hospital has been incredible. They coordinate her care across all these areas to make sure she’s getting the best treatment possible.”
A Noble Journey: Advocacy and awareness
Today, Rylee continues to live her life with purpose and passion. She is not only a member of her high school’s dance team but also actively participates in competitive dance. Despite the physical challenges of Hurler syndrome, dance has become her therapy. "I may not be able to do all the jumps and leaps, but I feel the music, and that’s what matters," Rylee says. "I’m not letting anything hold me back."
The sky's the limit for Rylee. Inspired by her experience with Laura Crane, her Child Life specialist at Children’s Memorial Hermann Hospital, Rylee dreams of becoming a Child Life specialist herself. "I'll be able to say to patients, 'You know what, I went through this. I can help you cope and help children see that there is a bright side to whatever diagnosis they receive.'"
Building on Rylee’s journey, her family felt a strong calling to make a difference for others affected by MPS. In response, they founded a non-profit organization called A Noble Journey. The mission is to raise awareness about Hurler syndrome and fund research to find better treatments and, ultimately, a cure.
"We realized how few people know about this rare condition, and we didn’t want other families to go through what we did without support,” said Jamie. “Rylee’s journey has become about more than just her—it’s about helping the next generation. Through A Noble Journey, we have contributed funds to Children’s Memorial Hermann to advance research efforts and work toward a cure for Hurler syndrome."
Rylee also serves on the Child Patient Advocacy Council (CPAC) at Children’s Memorial Hermann Hospital, where she uses her experiences to advocate for others living with rare diseases. CPAC enhances patient care by encouraging innovative suggestions from patients to share with doctors, and Rylee’s contribution is especially important. She believes that if a child is cognitively able, they should be included in parent-doctor conversations about their care. “It’s important for kids to be involved and have a voice in their own medical care, diagnosis and treatment,” Rylee says.
Don’t give up. There’s a reason I’m still walking, talking and dancing, and that’s because I have an army of people supporting me. We’re all in this together.' -Rylee
As Rylee continues to blaze her path, she remains focused on her goals—both for herself and for the future of those affected by MPS. Through her determination, positivity and the support of her family, friends and her medical team, Rylee believes she is proof that no obstacle is too great to overcome.
Jamie echoes her daughter’s strength and optimism: "It was hard to predict how she would progress with Hurler syndrome since it is a progressive condition, given her slower onset but her fighting spirit amazes me every day. Rylee is one of the strongest people I know. She’s been through so much, but she faces challenges head-on. I believe her journey will change the world for others with this condition."
Learn more about the Children’s Heart Institute at Children’s Memorial Hermann Hospital »
Learn more about the affiliated Pediatric Genetics Program at Children’s Memorial Hermann Hospital »