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.
