A Few Hundred People Turned to Bone.
April 7, 2010 3:47 AM Subscribe
"Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified when damaged. In many cases, injuries can cause joints to become permanently frozen in place. Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with more bone."^ Detailed in an article from The Atlantic, February 1998. Part 1. Part 2.
"I saw a woman today who finally became hard as wood all over," the French physician Guy Patin wrote to a colleague in 1692. This perfunctory note is the first clinical description of FOP. "It may be the strangest disease there is," says Dr. Fred Kaplan (PDF), an orthopedic surgeon and the world's leading authority on FOP. "It's the closest thing you'll find in real life to Kafka's Metamorphosis.".
The Mutter museum has a skeleton that exhibits this disease or something like it. If you like strange, medical deformations of the human body and find yourself near Philadelphia, this is the museum for you.
posted by recursion at 5:40 AM on April 7, 2010
posted by recursion at 5:40 AM on April 7, 2010
Tupac Shakur and the End of the World is a short story by Sandra McDonald. In it, all people in the world contract a variant of this disease via virus, and everyone struggles to not injure themselves, lest their bodies start to ossify.
posted by spikeleemajortomdickandharryconnickjrmints at 5:52 AM on April 7, 2010 [3 favorites]
posted by spikeleemajortomdickandharryconnickjrmints at 5:52 AM on April 7, 2010 [3 favorites]
I think body horror is one of the underestimated categories of horror; this is a strange thing, because we all experience a form of it as we age and our bodies stop being what we thought they were. FOP seems to be an especially keen source of it; imagine yourself moving very slowly and being incredibly aversive of risk, lest you get stiffer and stiffer, until...
I'm shuddering just to think of it.
posted by Pope Guilty at 5:57 AM on April 7, 2010 [1 favorite]
I'm shuddering just to think of it.
posted by Pope Guilty at 5:57 AM on April 7, 2010 [1 favorite]
I had heard about this a long time ago, probably in a science magazine or maybe even a science-themed TV show. I can't really remember where, but I do vividly remember the pictures of the overgrown skeletons to this day. Pope Guilty uses the word horror, and I think that's exactly right.
The prospect of having one's body slowly lock up in response to each little injury is the stuff of nightmares, but the worst part always seemed to be that they can't do anything to help. You sort of intuitively think they could do something surgically to fix it, and therefore it'd be horrible but temporary. Surgical intervention just makes the problem worse, so the permanence of each worsening of the condition is what really bothers me.
From a quick skim of the Wikipedia article about this disease, it seems they now know which specific genetic mutation is responsible, but there's still no effective treatment available.
There are actually pictures of that skeleton recursion mentioned, here on the ifopa web site. If the description of the disease creeped you out, you probably don't want to look at this.
posted by FishBike at 7:07 AM on April 7, 2010
The prospect of having one's body slowly lock up in response to each little injury is the stuff of nightmares, but the worst part always seemed to be that they can't do anything to help. You sort of intuitively think they could do something surgically to fix it, and therefore it'd be horrible but temporary. Surgical intervention just makes the problem worse, so the permanence of each worsening of the condition is what really bothers me.
From a quick skim of the Wikipedia article about this disease, it seems they now know which specific genetic mutation is responsible, but there's still no effective treatment available.
There are actually pictures of that skeleton recursion mentioned, here on the ifopa web site. If the description of the disease creeped you out, you probably don't want to look at this.
posted by FishBike at 7:07 AM on April 7, 2010
Yah, Fibrodysplasia ossificans progressiva was my go-to Teenage curse upon people when I was pissed. I think I read about it in Nueromancer. *shudder*
posted by The Whelk at 7:43 AM on April 7, 2010 [1 favorite]
posted by The Whelk at 7:43 AM on April 7, 2010 [1 favorite]
In Blindsight by the always-depressing Peter Watts, the narrator's love interest succumbs to a fast-growing version of this disease created by terrorists. One of the more disturbing scenes in a story full of them.
posted by drdanger at 8:14 AM on April 7, 2010 [1 favorite]
posted by drdanger at 8:14 AM on April 7, 2010 [1 favorite]
Like recursion, I also learned about this from seeing the skeleton at the Mutter museum. It is a really frightening disease.
I remember reading the little description next to the skeleton, which noted that it is missing teeth because they were intentionally broken in order to admit a feeding tube, after the patient's jaw ossified shut.
posted by Kadin2048 at 8:28 AM on April 7, 2010
I remember reading the little description next to the skeleton, which noted that it is missing teeth because they were intentionally broken in order to admit a feeding tube, after the patient's jaw ossified shut.
posted by Kadin2048 at 8:28 AM on April 7, 2010
I'll either throw up or faint, but I have to see it once. If they can live with it, I can certainly at least witness it.
posted by d1rge at 9:15 AM on April 7, 2010
posted by d1rge at 9:15 AM on April 7, 2010
We discussed this in my first anatomy and physiology class, and I remember looking at the picture of his skeleton in the Mutter museum - as I recall, I think that individuals with this disease typically die from respiratory failure as their thorax becomes increasingly locked up as bone, or positional asphyxia. I think that was the part that gave me the willies after learning about it, to think about being slowly suffocated, or the inability to move. Didn't we have a FPP recently about a man with quadriplegia talking about the agony of being unable to move, particularly when trying to sleep?
I think the worst part is what they mean by the "damage" with this disease - it isn't just a matter of avoiding falling down the stairs. When you consider all the tiny bumps and knocks and bruises, the small ongoing wear and tear that our bodies normally heal, it equals more calcification. I can't imagine what it's like to live in fear of that.
posted by circle_b at 9:36 AM on April 7, 2010
I think the worst part is what they mean by the "damage" with this disease - it isn't just a matter of avoiding falling down the stairs. When you consider all the tiny bumps and knocks and bruises, the small ongoing wear and tear that our bodies normally heal, it equals more calcification. I can't imagine what it's like to live in fear of that.
posted by circle_b at 9:36 AM on April 7, 2010
Seconding the scariness of body horror stories. F. Paul Wilson's "Soft" is an end-of-the world horror story where sort of the opposite of ossification happens: people's bones spontaneously turn to gelatin, sometimes bit by bit over a long period, sometimes the whole skeleton in a matter of minutes.
posted by Robin Kestrel at 9:45 AM on April 7, 2010
posted by Robin Kestrel at 9:45 AM on April 7, 2010
This is a great little article, and not just for the omg of fibrodysplasia ossificans progressiva (I don't mean to belittle it at all, for the record, but the affliction does have a great deal of the 'gasp' factor). I've known about FOP for a while and assumed people were working on it... because people always are in this day and age. That makes me exceptionally happy.
I was happy to see how the article both profiles some sufferers of FOP; there was a great little discussion of a lot of their mentalities towards the inevitable. But I was also just amazed by near the end of the article when they are discussing relatively current research:
When Wozney looked for near matches to the BMP sequence, he found a strong similarity to the protein product of the decapentaplegic (dpp) gene. Dpp is not a human gene. It is found in Drosophila melanogaster, the fruit fly.
... "This amazing similarity of a human protein to a fly protein? How far back in evolution can we trace an ancestor common to a human being and a fly? Oh, about six hundred million years ago. The fact that the structure of any protein would be so highly conserved over that gulf in evolution suggests that this protein must be pretty important, and that nature can't tamper with it too much. But what does it do? Flies don't have bones. People don't have wings. What does this protein do in the fly?"
I am well aware that connections like this exist, but every time I hear about another it amazes me, and the implications of a tidbit like this are mind-boggling. We know so little but we are learning so much, and even information that seems useless presently often comes back to be of vital importance later. It makes me so happy to see the scientific process at work here. It looks to me as if it is not just adding to our current database of knowledge, but that it's also on a clear path towards figuring out this puzzle and getting these people some help.
Good post. Thanks.
posted by six-or-six-thirty at 10:46 AM on April 7, 2010 [3 favorites]
I was happy to see how the article both profiles some sufferers of FOP; there was a great little discussion of a lot of their mentalities towards the inevitable. But I was also just amazed by near the end of the article when they are discussing relatively current research:
When Wozney looked for near matches to the BMP sequence, he found a strong similarity to the protein product of the decapentaplegic (dpp) gene. Dpp is not a human gene. It is found in Drosophila melanogaster, the fruit fly.
... "This amazing similarity of a human protein to a fly protein? How far back in evolution can we trace an ancestor common to a human being and a fly? Oh, about six hundred million years ago. The fact that the structure of any protein would be so highly conserved over that gulf in evolution suggests that this protein must be pretty important, and that nature can't tamper with it too much. But what does it do? Flies don't have bones. People don't have wings. What does this protein do in the fly?"
I am well aware that connections like this exist, but every time I hear about another it amazes me, and the implications of a tidbit like this are mind-boggling. We know so little but we are learning so much, and even information that seems useless presently often comes back to be of vital importance later. It makes me so happy to see the scientific process at work here. It looks to me as if it is not just adding to our current database of knowledge, but that it's also on a clear path towards figuring out this puzzle and getting these people some help.
Good post. Thanks.
posted by six-or-six-thirty at 10:46 AM on April 7, 2010 [3 favorites]
There was an episode of ER where an elderly female patient had this. I remember her caregiver lecturing the doctors about the need to take great care not to cause more damage, and talking about how much of the woman's ossification had been caused by the clumsiness of others (as well as misguided attempts at surgical intervention). Thank you for the additional insight to that chilling image.
posted by teremala at 12:25 PM on April 7, 2010 [1 favorite]
posted by teremala at 12:25 PM on April 7, 2010 [1 favorite]
The thing that sticks in my mind about FOP, or something similar to it, is something I read long ago about someone suffering from it who would soon have to decide whether they preferred to ossify standing or seated.
posted by mendel at 9:15 PM on April 7, 2010
posted by mendel at 9:15 PM on April 7, 2010
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