The Challenge of Rare Disease Diagnosis with Heather Gatcombe, MD
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...
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