Diagnosing and treating rare bone diseases is complex and each case is unique. In this season of the DDx podcast, delve into the experiences of six physicians and the stories of the patients they treat. Plus, discover how medical research is offering patients more options and more hope
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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 is surprising, the results of the clinical trial are astonishing.
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. Eventually, she is diagnosed with hypoparathyroidism.
A 9-year-old cannonballs into the shallow end of the pool. There’s a stab of pain through her hip. After discovering a bone growth, she is diagnosed with fibrodysplasia ossificans progressiva.
During a 20-week ultrasound appointment, there’s devastating news: the baby’s bones are broken and bowed and all signs point to hypophosphatasia.
What’s thought to be a case of newborn hiccups unravels to a grim diagnosis: generalized arterial calcification of infancy, or GACI, a rare genetic condition with a challenging prognosis.
A 62-year-old falls and fractures her wrist. This simple fracture reveals underlying osteoporosis, requiring lifelong (and expensive) medication. But this is where biosimilars come in.
