Rare diseases are … rare … which makes even textbook cases difficult to diagnose. In this season, we’ll talk about the patterns and characterizations of a rare paediatric disorders.

DDx Returns for Season Five

A podcast about how doctors think. Presented by Figure 1, the knowledge-sharing and collaboration app for physicians and healthcare professionals. Learn more at Figure1.com/ddx

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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.

The Power and Potential of GACI Clinical Trials

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. Biosimilars are extremely similar to the original drug they're designed to imitate, but much cheaper. This makes them more accessible to more people, meaning fewer fractures … better health … a better economy … and ultimately, a better quality of life.

DDx Returns for Season Five

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