Carl Zimmer's "The Girl Who Turned To Bone"

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.

"The Girl Who Turned to Bone"



    1. The fact that wound-healing is one of the factors that encourages ossification suggests that this would be a bad superhero adaptation…

      I’m sure that there are sci-fi-of-the-weird authors who could do justice to a ‘that which does not kill me makes me stronger; but hastens my inevitable transformation into immobile bone’ character; but it wouldn’t be a happy story.

  1. Gee, I was just watching “The Girl Who Got A New Face” the other day, in which such a disease takes over the face of a Hatian girl.

    (Warning: This whole thing is three times longer than it needs to be, and if you find yourself less than enthralled, don’t bother watching all the parts.)

  2. afflicting a total of 25 million to 30 million Americans.

    By that math something like 1 in 10 people suffer a rare disease.  That seems kind of high.

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    2.  Between 1 in 10 and 1 in 12 is just about right for how many people have a rare disease. The World Health Organization and most national health organization define a rare disease as one that affects less than 1 in 2000 people. There are over 7000 named rare diseases and many more without a name name and looking for a diagnosis.

  3. I would imagine that the odds of a useful treatment are pretty dismal(even R&D around a disease that people care about can easily take a decade+; but I’d imagine that, for certain sorts of rare diseases, team medicine would have a considerable interest in studying the mechanism behind the disease as a matter of basic research.

    I’m thinking, by way of example, of the lesion-study population. We have next to nothing on the table when it comes to regenerating damaged areas of the brain; but people with damage that produces interesting symptoms are of considerable interest indeed to researchers working on how the brain does its work.

  4. A close friend has this condition, or something very much like it.  His father and grandfather both died of it.  He has refused to procreate, which is very understandable, and he hasn’t adopted, either, because he doesn’t want his children to have to watch helplessly as he slowly and painfully turns to stone.  It’s sad and terrible; he is both brilliant and caring, and would have been a wonderful father.

  5. I have Ehlers-Danlos, which is pretty much the opposite of this illness.  We’re made out of kleenex.  But it’s rare enough (one in 5,000), that most doctors haven’t actually encountered anyone who’s been diagnosed.  Except the pain control doctor.

    One of ED’s nastier quirks is that we tend to look younger and healthier than the norm, so nobody believes that there’s anything wrong with us.

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