Mystery Diagnosis (OWN) - Hermansky Pudlak Syndrome - Part 1 of 2 - The Girl with No Bowel

Part 1 of 2 of HPS Mystery Diagnosis (Uncut Version). First broadcast on the Discovery Health Channel on August 16, 2010. Now it is a part of OWN (Oprah Winfrey Network). Part 2 is at This Mystery Diagnosis episode is about Hermansky Pudlak Syndrome. Mystery Diagnosis is a wonderful program on the Discovery Health channel - new episodes are shown on Monday nights at 10PM EST, but you can catch many older episodes during the week at various times.... and they sometimes pop up on Discovery and TLC. What is HPS? Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding. Characteristics HPS is described by five major characteristics which may include albinism, platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis. Diagnosing HPS The current diagnosis for HPS involves a simple non standard blood test. Standard of