A Noble Journey: Grateful patient gives back to help others with rare diseases

Rylee Noble often watched other kids do cartwheels on the playground, wondering why she couldn’t do the same. She didn’t know that the joint stiffness and muscle aches she felt weren’t normal.

"When you don’t know anything else, you don’t realize you’re in pain," she recalls.

For years, Rylee’s family had sought answers to her unexplained symptoms—a short stature, fingers that curled, and an inability to raise her arms above her head.

Searching for clues, they traveled three hours from their home in Corpus Christi, Texas, to the Texas Medical Center in Houston, where they met Hope Northrup, MD, Professor and Director of the Division of Medical Genetics in the Department of Pediatrics at McGovern Medical School at UTHealth Houston.

After a thorough evaluation, Northrup diagnosed Rylee, then age 10, with mucopolysaccharidosis type I (MPS I), a rare lysosomal storage disease caused by a genetic change. For the first time, her family had a name for her condition.

“At that time, we didn’t even know what MPS was," Rylee says.

At Northrup’s side during the diagnosis was a resident in his final year of training, Paul Hillman, MD, PhD. He would later become Associate Professor and Director of the Lysosomal Storage Disease Clinic at UTHealth Houston—and a steadfast ally in Rylee’s medical journey.

A lifelong partner in care

There is currently no cure for MPS I, a condition in which the body cannot produce a specific enzyme needed to break down complex sugar molecules. As the molecules accumulate, they lead to ongoing damage to organs, bones, and tissues. Without treatment, MPS I can significantly shorten life expectancy.

Rylee immediately began traveling each week from Corpus Christi to Houston for five-hour infusions to replace the enzyme her body lacked, slowing the disease’s progression.

After demonstrating stability for six months, it was possible for Rylee’s weekly infusions to be moved to her hometown. But there was one problem—no one in Corpus Christi could provide the treatment she needed.

Collaborating with a rheumatologist in Corpus Christi who was familiar with infusions, Hillman arranged for a local infusion center to administer the enzyme replacement therapy. This allowed Rylee, as well as other children with similar conditions in South Texas, to receive lifesaving treatment closer to home.

"Dr. Hillman is always there," Rylee says. "If we need something, he finds a way to make it happen."

Although the Division of Medical Genetics and Lysosomal Storage Disease Clinic are housed within the Department of Pediatrics, they provide a continuum of care for patients throughout their lifetime, from childhood to adulthood. This coordinated treatment is crucial for complex conditions like MPS I, which is progressive and affects multiple organ systems.

Now 16, Rylee receives multidisciplinary care involving cardiology, orthopedics, neurology, and more. Hillman, who oversees the Lysosomal Storage Disease Clinic, is at the center of coordinating this care, ensuring the right specialists address her health needs as they arise.

"Every three to four months, he checks in," explains Rylee’s mother, Jamie. "He’ll ask, ‘How’s her orthopedic health? Do we need a new scan? How are her migraines? Do we need another neurology consult?’ He’s the one keeping everything on track."

Turning hope into action

Rylee refuses to let her condition define her, instead turning it into a force for positivity. Not only does she excel academically with a 3.9 GPA and participate in competitive dance, but she also uses her experience to educate and unite others around rare diseases.

“After I was diagnosed, I realized MPS is only ‘rare’ because nobody talks about it,” Rylee says.

In partnership with the National Organization for Rare Disorders, she advocated for newborn screening for MPS in Texas, recognizing that early detection can dramatically improve outcomes for future patients. As a member of Children’s Memorial Hermann Hospital’s Patient Advocacy Council, she also ensures that young patients have a voice in conversations about their health.

In 2021, her forward-looking vision inspired her family to establish A Noble Journey, a non-profit organization dedicated to raising awareness and funding for MPS I. Through A Noble Journey, Rylee and her family made a generous philanthropic commitment to the Lysosomal Storage Disease Clinic, supporting Hillman’s efforts to continue improving the care of diseases like MPS I.

A Noble Journey also supports the work of Akihiko Urayama, PhD, Associate Professor of Neurology at McGovern Medical School, who is studying how to transport therapeutic agents across the blood-brain barrier—a major challenge in treating neurological complications of lysosomal storage diseases. His research could transform treatment for MPS I and other neurodegenerative diseases.

“Dr. U hasn’t found what he's looking for yet, but he hasn't given up,” Rylee says. “He keeps testing new ideas and trying different things. He just has the drive, and I love it.”

Jamie sees similarities in the relentless determination of Hillman, Urayama, and her daughter as they strive to improve the lives of people with MPS I.

"They all share the same tenacity," she says. "They’re not going to take no for an answer."

Learn more

For children with complex diseases, access to multidisciplinary care and innovative treatments can open the door to brighter futures and healthier lives. At UTHealth Houston, our faculty deliver expert treatment, drive groundbreaking research, and train the next generation of physicians. Learn more about their work and how it is making a difference to other patients like Rylee.