Stephen & Caroline

Story by their mom, Jana

Stephen, age 11, and Caroline, age 6, both have a metabolic disorder called Isovaleric Acidemia and are carefully managed by the physicians and other staff in the Department of Metabolism and Genetics at Children’s National Medical Center. They receive specialized care through close monitoring, specific diet management, and medication. They remain healthy and stable because of this specialized care.

Caroline has been fortunate to have had this care since birth due to early diagnosis and support prior to her birth; Stephen’s condition, however, was diagnosed at age 3, leaving him with severe brain damage. He has since been followed by several other clinics at Children’s, including neurology, orthopedics, physical medicine, and dental.

Stephen always receives top-quality care. Together, he and I are part of the Leadership Education in Neurodevelopmental Disabilities Program (LEND) to help teach enrolled trainees about children and families with neurodevelopmental disabilities. I serve as the Family Faculty Member. I am also now a member of the Patient/Family Advisory Council of the hospital.

We are always grateful to benefit from the quality care at Children’s that keeps our children alive and thriving.