The Challenge of Rare Disease Diagnosis with Heather Gatcombe, MD
From The Art of Medicine with Dr. Andrew Wilner by Andrew Wilner, MD
April 12, 2026 · 31 min · Season 1 · Episode 161
About this episode
Dr. Wilner interviews Dr. Heather Gatcombe about the challenges of diagnosing rare diseases, focusing on her son's experience with a mitochondrial disease.
Dr. Wilner would love your feedback! Click here to send a text! Thanks! 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 prepari...
People in this episode
Host: Andrew Wilner
Guest: Heather Gatcombe
Topics covered
- rare disease
- diagnosis
- mitochondrial disease
- healthcare
- pediatric medicine
Keywords
- rare disease
- diagnosis
- mitochondrial disease
- nuclear DNA mutation
- stroke
- heart transplant
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