Season 03

Few patients. A scarcity of literature. Working in rare disease can feel like you’re standing at the edge of an abyss with just a flashlight in your hand.

When a baby girl is born with two broken femurs, doctors don’t notice the bluish-grey discoloration of her sclera.

After a patient in his early 30s develops muscle weakness so severe he requires a wheelchair, he’s diagnosed with multiple sclerosis, and starts treatment for the disease. But when a bone scan reveals multiple fractures, his physicians start to question their original diagnosis.

A one-year old boy is brought to his doctor with a history of febrile seizures, odd movements, and developmental delay. His seizures continue, but the fevers stop.

After an 8-year-old boy with recurrent episodes of rhabdomyolysis is hospitalized for treatment of a rare inherited disease, his condition quickly deteriorates.

A 35-year-old man thought he had outgrown the rare disorder which he was diagnosed with as a child. But as his movement becomes increasingly limited, he realizes that he never escaped it.