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.

Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

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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.

Giving New Life Through X-linked Hypophosphatemia Research

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 with hypoparathyroidism, a rare bone disease, and finds an experimental treatment that changes her life.

The Bumpy Road to Hypoparathyroidism Diagnosis and Treatment

A 9-year-old cannonballs into the shallow end of the pool. There’s a stab of pain through her hip. What seems like just a bump takes a complicated turn. After discovering a bone growth, the child is diagnosed with fibrodysplasia ossificans progressiva. This extremely rare bone disorder has a devastating impact, but thanks to unexpected areas of research, patients have new reasons to hope.

Unexpected Therapies for Fibrodysplasia Ossificans Progressiva Offer New Hope

During a 20-week ultrasound appointment, there’s devastating news: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia. And thanks to the life-changing treatment of enzyme replacement therapy, today, this child and many others with this rare bone disease are living happy, healthy lives.

Overcoming the Odds of Prenatal 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. Nearly half of infants don't survive beyond six months. But a revolutionary clinical trial could potentially transform this child's life and the lives of others with this disease.

Classic Symptoms of Rare Diseases and Avoiding Diagnostic Odysseys

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