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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, Heath

anwilner
4 days ago1 min read


Rare Disease: A global approach for diagnosis, treatment, support, and clinical Trials
Many thanks to Harsha Rajasimha, Ph.D., Founder and Chairman of the Indo-US Organization of Rare Diseases. After a family tragedy, he...

anwilner
Mar 19, 20231 min read
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