When a physician gets a rare disease diagnosis
As an OB/GYN for the past 22 years, I have loved delivering babies, performing surgeries, and having long-term relationships with my patients. Now, I am on the other side of things, as a patient myself. I was diagnosed with adult polyglucosan body disease (APBD) in April of 2023 at the age of 59.
APBD is an ultra-rare, neurodegenerative disorder characterized by a deficiency of glycogen-branching enzyme. The result: an accumulation of …
When a physician gets a rare disease diagnosis
