Meet Caroline and Stephen: 2022 Family Advocacy Day Champions

Caroline and Stephen are participating in Speak Now for Kids Family Advocacy Day from June 12-14. Through this event, Caroline, Stephen and their family will discuss their health journey, Children’s National Hospital’s role in providing them with necessary health care services, and why the public and our elected officials must invest in the future of patients like Caroline and Stephen.

When Stephen was 3 years old, he was diagnosed with isovaleric acidemia (IVA), a rare genetic disease. The late diagnosis left him in a coma and on life support. As a result, he suffered a traumatic brain injury resulting in severe intellectual and developmental disabilities and complex health issues.

“We were devastated with his diagnosis of a rare disease and the brain injury,” says Jana, Stephen and Caroline’s mother. “His diagnosis was both traumatic and heartbreaking—we almost lost Stephen.”

Caroline, Stephen’s younger sister, was also diagnosed with IVA at birth, however, her condition was caught before it could cause brain injury. She receives ongoing treatment with genetic specialists at Children's National. She also has osteopenia. She is metabolically stable but currently is recovering from a leg fracture.

Stephen has complex medical needs and is currently stable for now.

“We are thankful that both our children receive advanced treatment that only the genetics team in the rare disease institute of Children's National can provide,” says Jana.