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Hope for Families Navigating Rare Diseases

Meet Shriners Children's Portland patients Avery and Madison.

Scientists have identified approximately 6,000 rare diseases affecting 3-6% of the global population.

When a child is diagnosed with a rare disease, parents often feel confused and lost, particularly if the disease is misdiagnosed or lacks a cure. For patients and families navigating these uncertainties, Shriners Children’s offers individualized, compassionate pediatric orthopedic care.

Avery’s Story

Avery's first days of his life were spent in the neonatal intensive care unit, where he was monitored for unusual movements. Despite normal test results, his family sensed something was amiss. When he was 4 months old, Avery was diagnosed with early-onset epileptic encephalopathy due to a KCNA2 gene mutation. “Not a lot was known about the disease at the time,” Avery’s mother, Oriana, said, “but we knew it would significantly impact his life.”

Over the years, Avery faced numerous challenges, undergoing three major orthopedic surgeries at Shriners Children’s Portland, including hip osteotomies and a spinal fusion. Despite these hurdles, Avery remains a joyful child, actively participating in school and community activities. “He is in second grade at our local elementary school and loves to be included and around all of the kids,” Oriana said. Avery uses an eye gaze device for communication, and has advocated for children's disability rights alongside his parents. He has even run countless miles in his jogger with his parents, including 5k and 10k races.

Madison’s Story

During her first soccer practice, when she was 4, Madison struggled to keep up with other children. Subsequent falls and physical difficulties led to a visit with her pediatrician, initially resulting in a diagnosis of hypotonic cerebral palsy. However, further investigation revealed an ultra-rare form of mitochondrial disease caused by an MT-CO1 gene mutation.

Madison's condition severely affects her muscles, necessitating the use of a power wheelchair and requiring medical interventions, like a cecostomy tube due to gastrointestinal issues and complete loss of bladder function.

Despite enduring six surgeries, numerous hospitalizations and invasive tests, Halsey, Madison’s mother, said, “Madison always has a smile on her face and is everyone’s best friend.” Madison remains resilient and optimistic, supported by her care team at Shriners Children’s Portland, including orthopedic surgeon Dominque Laron, M.D., and physical therapist Joel Cowley, PT. “Joel always makes sure my mom is heard, and I am taken care of and working hard to keep my body moving,” Madison said. One day, Madison wants to open an animal sanctuary for all animals.

Rare world is difficult; undiagnosed rare world is even more difficult. We’ve learned to appreciate moments a lot more and just keep on living and making memories.
Halsey, Madison’s mom

Both Avery and Madison, as well as their families, exemplify resilience and courage in facing the challenges posed by their rare diseases. Through specialized care and unwavering support, Shriners Children’s Portland provides a beacon of hope for families navigating the complexities of rare pediatric conditions.

We’re Here to Help

Shriners Children’s Portland is here for you every step of the way in your child’s care journey, from routine sports injuries to rarely-seen diseases. Learn how you can schedule an appointment with one of our specialized care providers.

Meet Avery and Madison

Avery and Madison lead active lives, taking part in incredible opportunities with their families.

Patient and her sister enjoying gymnastics

Madison and her sister attend an Oregon State University gymnastics meet.

patient in chair enjoying light show

Avery takes in the beauty of a festive light show.

Patient skiing with recreational therapist

Madison and a volunteer enjoy the slopes at a Shriners Children's Portland adaptive ski and snowboard event.

Next Steps

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