Let me start this by mentioning two very normal processes that happen in perfectly normal people. You'll see why in a minute.
First, there is the formation of the skeleton in a developing fetus, and the development that continues through childhood. Out of a single cell come many other cells, each with their own tasks; some form organs, some form skin, some form muscle, some form bone. The skeleton starts as cartilage, building a framework for the structure that will form, and then it is replaced by bone as the fetus grows. But the process is not random. There are blueprints of a sort, that allow the developing bone to know what shape to grow in, so that one doesn't end up with a thighbone for a ribcage or a skull at the bottom of the leg. And even after birth as the child grows, there are blueprints still in effect, dictating where growth will happen and how far it will go before stopping.
Second, there is the healing reaction when someone breaks a bone. The simplified version of this is that the body knows to build new bone to seal off the break and make it whole again. The longer, but still fairly broad, version is that the body forms a matrix of collagen matrix around the break, which then calcifies into bone. (And if you've ever watched "Bones", a forensic pathology crime-solving show, you will hear frequent references to remodeling; this process turns the newly laid bone into mature bone, and can be used as a way to determine whether a break is relatively new or has had time to heal.)
Now.
Imagine the first process -- fetal development of a skeletal frame -- but without an off switch. The skeleton develops normally at first, but then bone keeps growing. And the blueprints provided by nature have run out, so there's no specific structure to build. So the bone just gets attached haphazardly, like the creation of someone who buys a table from IKEA that comes with extra parts, decides that said extra parts must be included, and ends up with this. (Fair disclaimer: The person who built those did so deliberately, using several separate kits to make a unique creation.)
Imagine the second process -- healing of fractured bone -- but instead of being triggered by a break in the skeleton, gets triggered by anything. A fall, a cut, a bruise, or just on a whim. And instead of being localized to that injury, it happens pretty much anywhere. It could be on bone, broken or not. It could be on muscle. It could be on a tendon.
Imagine those two things, imagine them running rampant, and that is Fibrodysplasia Ossificans Progressiva.
Okay, so I don't know that it's the most scientifically accurate explanation. But it's close. And the broken bone analogy has proven useful to me as an explanation. Doctors understand phrases like "spontaneous heterotopic ossification of connective tissue", but most other people will just tilt their heads and look blank and go "well, I recognized the word 'of'..."
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FOP -- the short form of Fibrodysplasia Ossificans Progressiva -- is a genetic condition, in most cases caused by a spontaneous mutation (rather than being carried as a recessive trait and inherited from carrier parents; if someone with FOP chooses to have a child there is, I believe, a 50% chance that the child will also have FOP, but most cases have genetically normal parents and no incidence of FOP elsewhere in the family.) It is not something that you "get", but something that you are born with.
If you remember, in one of the first posts I mentioned that I was born with an abnormality in my big toes, which were short and bent inwards. This is one of the key indicators of FOP, and the only one that can be observed before the condition kicks into gear developing new bone. Many patients with FOP are affected early on; my situation, of a relatively normal childhood for the first ten years, is not unique but is not common.
Then again, nothing about FOP is common. It is a rare condition: there are less than 300 known cases in the United States, roughly 800 worldwide, though for obvious reasons this doesn't count people who have it but have not been diagnosed. And that rarity makes it difficult to diagnose, and difficult to research.
My own experience of having a cancer misdiagnosis is unfortunately one of the more common misdiagnoses. When FOP flares up -- the hot, flushed, painful swellings that I experienced, which often leave behind some amount of new bone when they recede -- the developing bone can look like tumors.
And my experience of surgery is also common (for someone that has symptoms but has not been correctly diagnosed). It is only natural to see something that does not belong in the body, whether a tumor or an odd piece of bone, and want to remove it. But this is also one of the worst things you can do. FOP flare-ups happen randomly, but they also happen in response to trauma. With very liberal definitions of trauma -- intramuscular injections can even trigger a reaction, including immunizations and novocaine injections for dental work -- so it is no surprise that surgery will cause problems.
My experience of a first major problem being in the hip is not as common: while there is no specific or predictable pattern to FOP bone growth, it typically starts in the shoulder and back, and only later moves to the extremities. But I think the bike accident was the trigger for the hip problems, the body responding (with unnecessary vigor) to trauma, and only then did I start getting the normal pattern of problem locations.
(I also suspect that the bone spurs in my hips and knees as a child, may have actually been FOP-related calcification along the tendons. But there is no way to prove that, and it hardly matters anyhow.)
It is not in itself fatal; organs are spared the ossification process, as are the diaphragm, tongue, eyes, and facial muscles (though the jaw can fuse in place). However, falling is extremely dangerous -- there is often no way to break one's fall, no way to cushion it, no way to absorb the shock -- as well as a high likelihood event, since partial or complete fusion of joints can affect a person's balance. Pneumonia (and other lung conditions) are also deadly -- the rib cage is often completely fused, and while the diaphragm serves to allow breathing, there is diminished lung capacity and less ability to cough.
If you would like more information about FOP, I suggest the website for the International FOP Association (IFOPA), in particular the page on FOP symptoms (which includes visuals of the toe malformation), the FOP FAQ, and the page on the FOP Skeleton (Harry Eastlack, who donated his skeleton to science for research into this condition).
And that's enough info-dumping for now. Tomorrow I'll get back to the more personal stuff.
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