DDx
Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys
Listen now
Description
Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this episode, we’ll talk about the patterns and characterizations of a rare disease and how we can avoid diagnostic odysseys.
More Episodes
After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. She’s in pain, frustrated, and nothing seems to help. So when a clinical trial presents itself, her doctor isn’t sure she’ll want to participate. While the decision to participate...
Published 05/29/24
DDx
Published 05/29/24
A 45-year-old is out for a drive. As she accelerates her stick-shift car, she starts to experience familiar, and scary, symptoms: facial tingling, numbness around her mouth, and her hands cramp and lock onto the steering wheel … Her story takes many wrong turns, but eventually she is diagnosed...
Published 05/22/24