Stone Man Syndrome

Stone Man SyndromeStone Man Syndrome or Fibrodysplasia ossificans progressiva, though a very unknown sickness, is very terrible and serious. It is an incurable genetic sickness and very rare, with only a few cases detected in the world; 72 cases in France.

The reason for this post is to familiarize you with this sickness, so that more people will get to know about it. I want to share this with you because my French teacher has a 2 year-old nephew who has this sickness, this has made me want to talk about this unknown sickness.

What is this sickness?
Stone Man SyndromeStone Man Syndrome or Fibrodysplasia ossificans progressiva transforms your muscles and tendons progressively into bones, which means that a second skeleton appears on top of the first one. The mutations start from the neck and spread down the back, contracting the thorax, and spreads to the whole body, including legs, arms, feet, and even jaws; only the heart stays untouched (luckily!).

The mutation makes it very painful and difficult for patients to stand, and starts from a young age; two years old onwards. Slowly, the patient is "locked up" into his own body, stiff and crammed. He becomes motionless, speechless, and progressively turns into a "stone" - from which the syndrome derives its name. 

Living becomes a torture for the patients as they battle their pain, and for their parents who see their child inflicted with this disease slowly dying as they become "stiffer" and "stiffer" by the day. Individuals inflicted with this disease usually have short lifespans, but the rate in which the disease spreads through the body depends on the individual (for some the growth is fast and instant, for others, it is more progressive and slow).

Stone Man SyndromeNo solution has yet been found as research is still on-going. My teacher's nephew's case has motivated doctors to be active in finding a cure, not only for him but also for those who suffer from this disease. To-date, one small discovery has been made: doctors have discovered the gene responsible for this disease, the BMP4 which is a product that contributes to the development of the skeleton in a normal embryo situated in the second chromosome. After a fetus's birth, this enzyme is deactivated because all the bones are already in place. But for the patients who suffer from this disease, the enzyme does not stop and continues creating new bones, as if the individual was still in the mother's womb.

Stone Man Syndrome

Because of its nature, doctors often misdiagnose this as cancer symptoms and prescribe medicine not suitable for it, and even increases bone-growth. It is even worse if the patient suffers injuries, as bones patches will instantly form. This means that individuals who have this disease cannot have vaccinations and surgeries, and avoid bleeding and external injuries, in order not to accelerate the mutation of bone formation; making it very difficult for doctors to work on this disease.

How to know if I or someone I know has this disease?
Usually, individuals affected start feeling the side effects at about 10 years old, but it could be detected at the child's birth if the medical team is equipped enough. If a child has the disease, you can see deformed great toes, possibly missing a joint or simply presenting with a notable lump at the minor joint.

Stone Man Syndrome

Pain in the neck area is common, where the disease starts to take effect. However, not every neck pain means that you have this disease. Although this is not a common disease, it does not mean that it is impossible. The only way to prevent this disease is to research more (and hopefully find a cure one day), share and talk about it to create more awareness so that the more people know about this, the more things will get done.
FOP
The parents of my teacher's 2-year-old nephew have joined an association which was created to fight against this disease. It is a French association called FOP-France. Do not hesitate to click on the link and go on the website, even if you do not speak French. Do not hesitate to join it or help financially or create even more awareness. The association exists internationally, so try to visit the FOP-France and share it.

It would be great if you could share this and create more awareness about this disease, by making talk shows, newspaper articles, interviews or documentary films. I am sure that the association would be very honored to receive your help. Please do not hesitate to leave a commentary below, so I can give the message to them. You can also join the page on Facebook, by typing FOP-FRANCE, or FOP international.

Because it is an unknown sickness, because it is terrible, because it must be known, because it must be shared, YOU ARE THE ONES WHO CAN MAKE THE RESEARCH GO FURTHER! Please share it, share it, share it !

Stone Man Syndrome
Stone Man Syndrome

If you want to know more about it or read more stories of families dealing with this sickness everyday click here :
www.alis-army.org : story of Ali a little girl who has the Stone Man Syndrome

4 comments:

  1. If they have isolated the gene responsible, perhaps in the near future genetic testing in the pre-natal phase or even prior to a pregnancy would show the potential of giving birth to someone with this disease. That is such a painful horrible disease and I can't imagine watching my child suffer like that.

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    Replies
    1. Actually the disease is undetectable before the child's birth. May be they will find a way (I hope so) !
      But for now the disease is only diagnosticed after the child's birth even with the discovery of its origins.

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  2. Hi, my name is Angela McKean, I am the mother of a beautiful little 5 yr old girl who was recently diagnosed with FOP. First I want to thank you in aiding in raising awareness. As this disorder is extremely easy to diagnose, however due to the lack of awarenss even orthopedic surgeons are not aware and 90% of the time misdiagnose and then the patients are subjected to multiple tests and procedures that actually harm them, this happened to our little girl. If you would like to learn more about her or her Dr, Dr Fred Kaplan, the Dr who discovered the gene mutation and is working passionately towards a treatment and cure visit www.alis-army.org. thank you for your time and please, anyone who reads this spread the word for all of us affected by this terrible disorder.

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    Replies
    1. You welcome :)
      Good luck for you and your little girl !
      I will spread the website so people can visit it :)
      All the best !

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