In The Atlantic, science writer extraordinaire Carl Zimmer wrote a fascinating long article about fibrodysplasia ossificans progressiva (FOP), a rare medical disorder in which the sufferer grows a second skeleton. (Above, the skeleton of FOP-sufferer Harry Raymond Eastlack, on display at the Mütter Museum.) Beyond a tale of medical curiosity, it’s a genetic detective story that says a lot about the study of rare diseases. From The Atlantic:
A rare disease is defined as any condition affecting fewer than 200,000 patients in the United States. More than 7,000 such diseases exist, afflicting a total of 25 million to 30 million Americans.
The symptoms of these diseases may differ, but the people who suffer from them share many experiences. Rare diseases frequently go undiagnosed, or misdiagnosed, for years. Once people do find out that they suffer from a rare disease, many discover that medicine cannot help them. Not only is there no drug to prescribe, but in many cases, scientists have little idea of the underlying cause of the disease. And until recently, people with rare diseases had little reason to hope this would change. The medical-research establishment treated them as a lost cause, funneling resources to more-common ailments like cancer and heart disease.