Medical Stories - Gaucher Disease: Shaina's Story

With only 6,000 cases in the U.S., Gaucher disease is a rare genetic disorder that, according to the Cleveland Clinic, can cause bone pain, enlarged organs, and bleeding problems. When she was a child, Shaina had dreams of becoming a stand-up comic as an adult. But she had to put those dreams on hold when she was diagnosed with Gaucher disease. At her home in Miami, Florida, the 34-year-old mother of two explains how despite her condition, she’s managed to channel her pain into an opportunity to make people laugh. This episode also features in-depth commentary from renowned expert Neal J. Weinreb, MD, Voluntary Associate Professor of Human Genetics, University of Miami. Please subscribe to our YouTube channel and look for Medical Stories on your Public Television station. Check your local PBS listings today! Or visit https://medicalstories.tv/ to learn more about this very popular documentary series. Follow us on Facebook:   / medicalstories.pubtv.pbs   Check us out on Instagram:   / medicalstories_pubtv_pbs   Subscribe to our YouTube Channel:    / @medicalstories   Look for us on TikTok:   / medicalstories.tv   #MedicalStories #MedStoriesTV #gaucher #rarediseases Chapters: 0:00 Shaina's Dream 1:26 Gaucher Disease and Shaina's Struggles 3:34 How Gaucher Disease Affects the Bones 4:52 Unnecessary Surgery and Getting a Diagnosis 7:14 A Spectrum Disorder 9:19 Healthy on the Outside, Sick on the Inside