Mystery Diagnosis S09 E05 The Girl With No Bowel

After suffering a series of debilitating incidents believed to be the result of Crohn's disease, Karen, an albino, has to have most of her colon removed. Several decades later, at the age of 38, she receives a phone call from someone who suggests she is suffering from a rare and fatal disease, Hermansky-Pudlak syndrome, which is also the cause of her albinism.