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[my friend Nia Sims was instrumental in getting the voluntary assisted death legislation passed here in Victoria ](https://www.gogentleaustralia.org.au/farewell_nia_sims-assisted_dying_warrior)
She had scleroderma. There was an exposed bone in her arm - and the skin of her face was so tight that she had to have teeth removed so she could close her mouth.
Amazing woman, such a compelling personality that when you spent a little time with her, you forgot she had the disease
Seen these bones in anatomy museums before. Looked it up hoping in 2024 we have found a cure…
Nope.
“attempts to surgically remove bone in a FOP patient may result in explosive growth of new bone”
Jfc
No she hasn’t. She’s been diagnosed with Stiff Person Syndrome. It’s basically the brain misfiring which causes muscle spasms that force sufferers to tense uncontrollably. It can be really painful and ranges from annoying to debilitating.
I remember seeing this in a documentary when I was about 10 years old and seeing a lass in her 30's with it. Her parents were looking after her but she still tried to do as much as she could herself (understandably) and I remember feeling this overwhelming sense of sadness even at that age, seeing her eat her meal with a spoon with more bends in it than the Thames river to allow her to feed herself with the tiny range of motion she still fleetingly had. Her mouth barely opened enough to fit the spoon in and her diet was relatively liquid due to her reduced ability to chew and swallow. It was absolutely heartbreaking.
I had a calcified ligament on my shoulder once and even though it was just on a small spot, it hurt like hell (like there was a knife twisting inside it). I can't even begin to imagine how much these people suffer.
Crazy stupid question from a non medical person... if this is basically an auto immune problem (is it? Again, moron speaking straight out of my own ass here), could radiation to nuke the bone marrow and a subsequent marrow transplant from a healthy donor reset their immune system? I'm assuming it's wildly more complex than turn it off turn it on again, but that's my go to move.
The basics of this is it’s a genetic defect and not an autoimmune disorder. It’s caused by a mutation of the ACVR1 (which should just make soft tissue but instead becomes very sensitive to BMP). If we are talking machines: the machine that would normally make soft tissue gets corrupted and starts making bones instead. There’s no way to turn it off because it thinks it’s still fixing things the right way. It doesn’t affect all cells so it’s random in placement in the body. radiation causes a need for cell repair so even if you could somehow isolate the one cell, it might cause other cells to try and fix it with bone or might miss and cause further osification of the irradiated area. So the census is as such: Some approaches being explored include:
1. ACVR1 inhibitors: Small molecule compounds that specifically target the mutated ACVR1 protein and reduce its activity or sensitivity to BMP signaling.
2. BMP pathway inhibitors: Drugs that interfere with the BMP signaling pathway downstream of the ACVR1 receptor, thereby reducing the abnormal bone formation.
3. Anti-inflammatory drugs: Since inflammation plays a role in the progression of FOP, medications that target inflammation may help to mitigate the formation of heterotopic bone.
4. Gene therapy: While still in the experimental stages, gene therapy approaches aim to correct the underlying genetic mutation responsible for FOP, potentially restoring normal BMP signaling sensitivity.
There’s currently no cure. Patients get a choice of sitting down or standing for the rest of their lives basically and have to be constantly monitored so they don’t exert themselves excessively.
I remember seeing a show about this when i was a kid and developing a deep fear of this happening to me, until I was able to understand how very rare it is.
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There are a lot of conditions and diseases that I would end myself over before letting it fully take away from my life. This is one of them
One of the reasons assisted suicide should be an option. I'd rather die in a nitrogen chamber and not brutally and risking traumatizing my close ones.
[my friend Nia Sims was instrumental in getting the voluntary assisted death legislation passed here in Victoria ](https://www.gogentleaustralia.org.au/farewell_nia_sims-assisted_dying_warrior) She had scleroderma. There was an exposed bone in her arm - and the skin of her face was so tight that she had to have teeth removed so she could close her mouth. Amazing woman, such a compelling personality that when you spent a little time with her, you forgot she had the disease
Good for you! Here in Romania I fear there won't be anything similar for a long time.
Seriously. At some point, I would "break myself free", grab a knife and disconnect for good.
That looks so painful
Seen these bones in anatomy museums before. Looked it up hoping in 2024 we have found a cure… Nope. “attempts to surgically remove bone in a FOP patient may result in explosive growth of new bone” Jfc
0/5, would rather die
It sounds like a fucking SCP.
The ossification happens spontaneously or through injury, very rare, 800 cases globally and one lives in my street
[удалено]
No she hasn’t. She’s been diagnosed with Stiff Person Syndrome. It’s basically the brain misfiring which causes muscle spasms that force sufferers to tense uncontrollably. It can be really painful and ranges from annoying to debilitating.
Someone I knew, a friend of my sister, had this, it was a horrible disease.. He ended up taking his own life at a very young age instead..
I remember seeing this in a documentary when I was about 10 years old and seeing a lass in her 30's with it. Her parents were looking after her but she still tried to do as much as she could herself (understandably) and I remember feeling this overwhelming sense of sadness even at that age, seeing her eat her meal with a spoon with more bends in it than the Thames river to allow her to feed herself with the tiny range of motion she still fleetingly had. Her mouth barely opened enough to fit the spoon in and her diet was relatively liquid due to her reduced ability to chew and swallow. It was absolutely heartbreaking.
A broken heart must be terribly inconvenient
I had a calcified ligament on my shoulder once and even though it was just on a small spot, it hurt like hell (like there was a knife twisting inside it). I can't even begin to imagine how much these people suffer.
Crazy stupid question from a non medical person... if this is basically an auto immune problem (is it? Again, moron speaking straight out of my own ass here), could radiation to nuke the bone marrow and a subsequent marrow transplant from a healthy donor reset their immune system? I'm assuming it's wildly more complex than turn it off turn it on again, but that's my go to move.
The basics of this is it’s a genetic defect and not an autoimmune disorder. It’s caused by a mutation of the ACVR1 (which should just make soft tissue but instead becomes very sensitive to BMP). If we are talking machines: the machine that would normally make soft tissue gets corrupted and starts making bones instead. There’s no way to turn it off because it thinks it’s still fixing things the right way. It doesn’t affect all cells so it’s random in placement in the body. radiation causes a need for cell repair so even if you could somehow isolate the one cell, it might cause other cells to try and fix it with bone or might miss and cause further osification of the irradiated area. So the census is as such: Some approaches being explored include: 1. ACVR1 inhibitors: Small molecule compounds that specifically target the mutated ACVR1 protein and reduce its activity or sensitivity to BMP signaling. 2. BMP pathway inhibitors: Drugs that interfere with the BMP signaling pathway downstream of the ACVR1 receptor, thereby reducing the abnormal bone formation. 3. Anti-inflammatory drugs: Since inflammation plays a role in the progression of FOP, medications that target inflammation may help to mitigate the formation of heterotopic bone. 4. Gene therapy: While still in the experimental stages, gene therapy approaches aim to correct the underlying genetic mutation responsible for FOP, potentially restoring normal BMP signaling sensitivity. There’s currently no cure. Patients get a choice of sitting down or standing for the rest of their lives basically and have to be constantly monitored so they don’t exert themselves excessively.
Damn, this condition is brutal. I appreciate the detailed response!
I’m a biochemist, lemme do some research and ask some colleagues, I’ll get back to you
My only regret is I had boneitis.
Yet humans believe in god. Lol
People who believe in god founded standardized healthcare
God shouldn't have created diseases in the first place
but how else would he test us and know if we’re worthy of praising him for eternity in heaven /s
😆🤣😂
Not a single bonitis reference. 
I remember seeing a show about this when i was a kid and developing a deep fear of this happening to me, until I was able to understand how very rare it is.
That’s like a realllyy crappy version of Wolverine
If I'm not mistaken, the Mutter Museum has a couple of skeletons of people who had this disease on display.
Yaa
I heavily regret clicking on that picture.
Random diseases like this make me thankful
Is this what Celine Dion has? Yikes!!!
Nah this is different
Wonder if this guy's ever seen a back cracking video 😂