A Fatal Family Disease & the Flip of a Coin

Rachelle Dixon grew up around what her family called "the family disease"—a condition eventually diagnosed as HSAN1E, a rare, hereditary, degenerative neurological disorder that claimed the lives of her mother and two of her siblings. HSAN1E (Hereditary Sensory and Autonomic Neuropathy Type 1E) is caused by mutations in the DNMT1 gene and is characterized by progressive neurological decline. Rachelle went on to become the President and Co-Founder of the HSAN1E Society, and today is a frequent speaker on rare disease advocacy and the experience of caregiving for individuals with conditions that medicine is still working to understand.