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I know someone with FOP, and this pretty much fits his experience. His is a mild case, but he carries crutches because his knee sometimes locks from one of his

I know someone with FOP, and this pretty much fits his experience. His is a mild case, but he carries crutches because his knee sometimes locks from one of his attacks -- muscle sprain in childhood -- and he needs its support. He's also talked about the pain going to the doctors becomes at times, because pretty much everything is handled by specialists, or with their consultation, and he just wants to get on with life. One of the things that this article doesn't touch on, though, is the difficulty in getting treatment and effective care for comorbid diseases. Because these diseases, especially things like FOP, can manifest in odd ways, they tend to lump all of the other abnormalities together, even if the other symptoms run completely counter to what the disease does to others. So, standard diagnostic batteries for the other diseases aren't run, even if such a diagnostic would be useful in managing body issues that can and do come up. Thankfully, though, he's managed to get a decent amount of day-to-day coping skills with his other disease (Ehlers-Danlos Syndrome) from the internet. It still would be nice for him to get a firm diagnostic, so that interactions and symptoms could better be monitored.

npsimons 13y ago
The fact that the subject of the OP was diagnosed fairly quickly struck me; more often than not, as you mention, rare diseases are misdiagnosed or completely missed. I've often wondered if someone hasn't done a long term statistical analysis of the probability of seeing rare diseases. It's one thing to think you have a rare disease (and is statistically very unlikely), but if you are a doctor seeing already self-selected ill subjects, wouldn't that change the probabilities significantly? I know modern medicine is quite mentally taxing, and most doctors are trained to be conservative, but maybe just emphasizing the fact that the statistics are different for the population of people seeing doctors might go a long ways to convince doctors not to automatically lump illnesses into the most common categories. That, and making the tests cheaper (like all of them, virtually zero cost; who wouldn't just throw every test they can think of at a problem if the tests were dirt cheap).

npsimons 13y ago

The fact that the subject of the OP was diagnosed fairly quickly struck me; more often than not, as you mention, rare diseases are misdiagnosed or completely missed. I've often wondered if someone hasn't done a long term statistical analysis of the probability of seeing rare diseases. It's one thing to think you have a rare disease (and is statistically very unlikely), but if you are a doctor seeing already self-selected ill subjects, wouldn't that change the probabilities significantly? I know modern medicine is quite mentally taxing, and most doctors are trained to be conservative, but maybe just emphasizing the fact that the statistics are different for the population of people seeing doctors might go a long ways to convince doctors not to automatically lump illnesses into the most common categories. That, and making the tests cheaper (like all of them, virtually zero cost; who wouldn't just throw every test they can think of at a problem if the tests were dirt cheap).