Our Little Friend of the Week: Stone Man Syndrome

Ok, so this week I won’t be focusing so much on any particular microbe. Instead, I wanted to go a bit into a disease that  fascinates me a bit more than it probably should lol It’s called Fibrodysplasia ossificans progressiva, also known as Stone Man Syndrome. I first heard about this rare disease a little while back in this month. A girl, Ali Mckean from the UK, suffers from this disease. I read about it in an online news article in the medical section. I was gobsmacked because I had never heard about anything like this before. I started researching online more information about this disease and I was amazed (yet terrified at the same time, a bit.)

Fibrodysplasia ossificans progressiva, Stone Man Syndrome, is pretty much what it sounds like. It is an extremely rare disease of the connective tissues. Somehow a mutation of the body’s repair mechanism causes fibrous tissues (including muscle, tendon and ligaments) to be ossified when damaged. Ossified meaning, turning into bone. Injuries can often cause the joints to become permanently frozen into place. Even surgical removal of the extra bone has shown to cause the body to “repair” the area with even more bone. So surgery doesn’t appear to help the problem.

Close up of the skeleton. Note the extra bone growth.

People born with this disease are usually born with deformed big toes and sometimes missing a joint. The first flare-up that leads to the Stone man Syndrome occurs (usually) before the age of 10. FOP (shortened version of the technical name) is a genetic disease. The bone growth progresses from the top downward. This is just how bones grow in a fetus. A child afflicted with FOP will develop bones starting in the neck and then on to the shoulders, arm, chest area and onward on to the feet. The gene that causes ossification in the body is normally deactivated after a fetus’s bones are formed in the womb. However, in people with FOP, the gene continues to work long after. Because the disease is so rare, the symptoms are often misdiagnosed as cancer or fibrosis.

The best known FOP case is that of  Harry Eastlack . His condition began to develop at the age of ten and, by the time of his death from pneumonia in November 1973, six days before his 40th birthday, his body had completely ossified, leaving him able to move only his lips. Hence the “Stone Man” aspect, it was as if he had been “turned to stone”, almost literally. Before his death, he had made it clear that he wanted to donate his body to science in the hopes that his death would be able to help find a cure for this disease. You can find his body kept at the Mutter Museum in Philadelphia. There have approximately been 700 confirmed cases across the globe from an estimated 2500. Unfortunately, there is no current cure for this disease. Attempting to remove any bone only results in more bone growth (and sometimes more rigorous growth). This puts quite a damper on the life of the person affected since there appears to be nothing that can really be done. Even their current living situations change. Activities that increase the risk of falling need to be avoided, as injuries from falling can provoke the growth of more bone. This is a considerable problem for young children since they run around, play and fall often…which is normal for a young child. I can’t imagine what it must be like to be young and have this rare disease.

Many years ago there was a trial going on where scientists had discovered that a component in sharks can prevent the growth of blood vessels in tissues, which would prevent the creation of bones…in sharks. The trial started in 2002 but was ended in 2007. Since then, there has been no clinical trials for FOP.

I can kind of relate to this, on just the basis that I suffer from an autoimmune disease that currently has no cure. Granted, It is not life threatening and does not do the same things to my body as FOP would. But, I do understand what one feels like when you suffer from something that can’t be cured. I consider myself lucky that (even though i can’t be “cured”), my illness can be treated and I can get back to a mostly normal physical life, with hard work. I hope that there will be a day when the people who do suffer from FOP, can count themselves lucky too because their illness will no longer affect them.

That is my ‘Little Friend of the Week’ for this week, sort of. Next week, I will either delve into Yersinia Pestis (involved in the Black Death) OR…go into another biology related topic I enjoy…Parasitism! I was thinking of eventually doing a post on Parasites…the good (their not all bad) and the bad (to be fair) and the interesting. See you next week 🙂

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About therocknwriter

Yours truly. A somewhat cranky, highly sarcastic, but usually mild mannered poet with a love for Coheed and Cambria, body modification, smoothies, video games, a good book, and vegetarian delights. I love being an Oreo, and I hope you'll love me for it too

Posted on June 19, 2012, in Our Little Friend of the Week and tagged , , , . Bookmark the permalink. 4 Comments.

  1. Wow. It sounds like something out of mythology or something. I mean, like gorgons, and how they turned their ‘prey’ to stone. It’s a puzzling little disease by the sounds of it, and maybe that’s how it was explained away in ancient times, that a ‘gorgon’ stared at them, causing them to ‘turn to stone’. Just a random thought.

    But highly informative. It sounds like an absolute bitch of a disease to get – cut away the old growth, and it either comes back, or comes back with a vengeance…. that’s not good. I’m glad we know of no one suffering from that.

    • Well, I wouldn’t call it a “little” disease per say, considering what I can do. But yeah, puzzling. Most rare diseases are. I mean even what I have, polymyositis and other autoimmune diseases are still puzzling. Though, I’m lucky that it is not AS rare as Stone Man…otherwise I don’t think rheumotologists would know how to treat it. And yeah, it does sound like something out of mythology. I guess one would never really imagine your muscles and tissues could…turn to bone and be solidified. I have to wonder if it’s painful…I mean to try to move once it’s gotten far enough. None of the articles I found had any accounts for what it felt like…other than not being able to move. Not sure if it causes pain, but i’d have to imagine it might…or at least discomfort. Not sure. Gonna have to look more into it. Feel free to share with friends and anyone who might be curious.

      • True, poor choice of words on my part. I’m glad your disease isn’t as rare as Stone Man, because I would be constantly worried.

        I honestly wonder the same – if it’s painful change, or if it’s painless. I’ll certainly share it, I always do when there’s stuff that interests me. Think I might also post it to Facebook too.

      • Ah, feel free 🙂 I think it’s fascinating…sad, but fascinating. And being aware may promote more research someday. Glad you liked!

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