When a child has A rare diagnosis

Many thanks to Heather Gatcombe, MD, a physician and mother of a child affected by a rare mitochondrial disease. Her son experienced normal development until age eight, when he suffered a sudden stroke at school. After five years, he was diagnosed with a nuclear DNA mutation. Now 16, he has endured multiple strokes, hearing loss, and heart failure, but has successfully undergone a heart transplant and is currently preparing for college.

In addition to her clinical work, Heather serves on the Board of Trustees and the Scientific Medical Advisory Board Clinical Training and Education Committee of the United Mitochondrial Disease Foundation (UMDF). The UMDF is dedicated to raising awareness of mitochondrial disease, which can present in both children and adults—the average age of diagnosis is 30.

During our interview, Dr. Gatcombe highlighted the challenges of obtaining an accurate diagnosis for mitochondrial disease, noting that precise identification is essential for effective treatment. The UMDF offers free genetic testing, and two FDA-approved medications are now available for patients.

For more information or to support the UMDF’s mission, visit https://umdf.org. Physicians interested in continuing medical education can learn more at https://umdf.org/mito-university.

#NORD #raredisease #mitochondria #UMDF