The girl who turned to bone.

May 24, 2013 7:01 AM

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.. One of them, fibrodysplasia ossificans progressiva (FOP), might be approaching a cure.

Previously, also from The Atlantic.

posted by dmd (21 comments total)

See also: Louise Wedderburn
posted by The 10th Regiment of Foot at 7:29 AM on May 24, 2013

It a disease is only rare if it infects less than 200,000 Americans than no more than a single rare disease can only impact on up to 1500 of the ~300,000,000 Americans. But if the 25,000,000 figure and the 7000 figure is correct then it requires more than 3000 people to have each of the conditions on average (and that's leaving aside any poor sod with more than one) so some must not meet the definition. Basically, I guess what I am saying is DOES NOT COMPUTE.
posted by biffa at 7:38 AM on May 24, 2013 [1 favorite]

Thanks for posting this. I found it a very engrossing read.
posted by Carillon at 7:39 AM on May 24, 2013 [4 favorites]

It a disease is only rare if it infects less than 200,000 Americans than no more than a single rare disease can only impact on up to 1500 of the ~300,000,000 Americans. But if the 25,000,000 figure and the 7000 figure is correct then it requires more than 3000 people to have each of the conditions on average (and that's leaving aside any poor sod with more than one) so some must not meet the definition. Basically, I guess what I am saying is DOES NOT COMPUTE.

Your math is off on this one. The total number of Americans doesn't come up in the numbers at all.

Wait, I think your misreading "fewer than 200,000 Americans" as "fewer than 1 in 200,000 Americans".
posted by kmz at 7:45 AM on May 24, 2013 [2 favorites]

still. 10% of Americans have a rare disease? wow.
posted by garlic at 8:05 AM on May 24, 2013

If that shocks you, you better sit down for this one: close to 100% of Americans have rare fingerprints and DNA.
posted by DU at 8:09 AM on May 24, 2013 [3 favorites]

“That was it,” Kaplan told me. “In an adult, you see what’s already past. When you meet a child, it’s like seeing a beautiful building, and a plane’s about to destroy it.”

uhhhhhhhh
posted by MangyCarface at 8:33 AM on May 24, 2013

What an amazing story -- the ways she adapted to having a horrible disease like she did should make "normal" people ashamed they haven't done more with their lives.

Of course, I am a horrible person for reading the article and every time it mentioned the disease using its acronym I kept saying in my head "I don't want FOP, goddammit, I'm a Dapper Dan man!"
posted by mr_crash_davis at 8:34 AM on May 24, 2013 [4 favorites]

This is ridiculously awesome -- not just for the tiny handful of people with FOP, but for the much larger percentage of people with osteoporosis. And it's a perfect example of why it's worthwhile to invest effort in learning more about rare diseases, not just from a humanitarian perspective, but from a utilitarian one.
posted by KathrynT at 8:48 AM on May 24, 2013 [5 favorites]

Sorry, you are totally right about my misread, apologies for the derail.
posted by biffa at 9:04 AM on May 24, 2013

—the result of a new bone that had grown in her arm.

Peeper’s doctors took a muscle biopsy from her left forearm. Afterward, she wore a cast for six weeks. When it came off, she couldn’t flex her elbow. A new bone had frozen the joint.

Over the next decade, as Peeper grew more bones—

This is some serious shit right here. WOW. IANAD, but I can't help thinking that somewhere in this woman's body is a genetic code that could potentially be used to regrow lost limbs. There has to be some way to understand this horrible disease, and then use it to our advantage in ways we have yet to imagine.
posted by QueerAngel28 at 9:04 AM on May 24, 2013 [2 favorites]

There has to be some way to understand this horrible disease, and then use it to our advantage in ways we have yet to imagine.

there is. they're doing it. It just costs money, and the payoff is distant and undefined.
posted by KathrynT at 9:11 AM on May 24, 2013 [1 favorite]

I have a friend with FOP. I can only hope a cure will come soon enough for her, but even if it doesn't I'm glad research is being done in the area. It's all too easy to forget about medical problems that don't have big PR campaigns.
posted by asciident at 9:11 AM on May 24, 2013 [2 favorites]

I can't help thinking that somewhere in this woman's body is a genetic code that could potentially be used to regrow lost limbs. There has to be some way to understand this horrible disease, and then use it to our advantage in ways we have yet to imagine.

It's already been imagined. From the article:

“But if Kaplan and his colleagues can finish untangling the network of genes that ACVR1 is a part of, they could figure out how to use a highly controlled variation on FOP to regrow bones in certain scenarios. ... This would not be the first time the study of a rare disease unearthed new treatment options for more-common afflictions.”
posted by tempestuoso at 9:12 AM on May 24, 2013 [1 favorite]

More photos of the skeleton of Harry Eastlack, the FOP patient mentioned in the article who donated his body to science.
posted by nicebookrack at 9:36 AM on May 24, 2013 [3 favorites]

Previously regarding "orphan diseases."
posted by nickmark at 10:24 AM on May 24, 2013 [1 favorite]

People with this affliction, in the past, apparently sometimes made their living in freak shows.

My parents took me to the Long Beach Pike, and there was a guy who was reputed to be turning to stone. . . I cannot find a good link for this, though.

But I hope that a cure comes soon enough to help this girl.
posted by Danf at 11:15 AM on May 24, 2013 [1 favorite]

“That was it,” Kaplan told me. “In an adult, you see what’s already past. When you meet a child, it’s like seeing a beautiful building, and a plane’s about to destroy it.”
---
uhhhhhhhh

Every disease is like a 9/11 of the *heart*. Doubly so for heart diseases.
posted by FatherDagon at 1:09 PM on May 24, 2013

I just did a gig celebrating the anniversary of NORD, the National Organization of Rare Diseases. NORD was created following the passage of the Orphan Drug Act, which creates financial benefits like tax breaks for companies that work to create drugs to benefit populations with diseases that affect fewer than 200,000 people. Awesome gig filled with brilliant scientists and doctors, as well as amazing patients.
posted by Shotgun Shakespeare at 5:02 PM on May 24, 2013

As has been alluded to above, research into rare diseases can yield benefits beyond treatments for those who suffer from the disease. One example that I am familiar with is the clotting disorder Glanzmann's thrombasthenia. A local family has a daughter with this condition and the mother founded the Glanzmann's Research Foundation.

What makes this disease relevant for millions of people is that the underlying defect involves platelet proteins called glycoprotein IIb/IIIa receptors, which help platelets clump together during clot formation. Investigations of the role of those proteins in this disease led to the development of a class of blood thinners known as glycoprotein IIb/IIIa inhibitors, which act by (weakly) mimicking the effects of this disease. They are frequently used during cardiac catheterization for heart attacks to prevent clot formation.
posted by TedW at 7:15 PM on May 24, 2013 [1 favorite]

That was excellent science reporting.

Thanks nicebookrack for the better photos of Harry Easlack, the one in the article was too small to see what really happened with his body.

I can't imagine only one person in the world researching a disease. I'm glad there is more interest and that progress is being made. I hope they find a cure or a decent treatment and that the research helps other disorders.
posted by shoesietart at 7:29 PM on May 24, 2013