FOP (fibrodysplasia ossificans progressiva)

Discovering FOP

Until a few weeks ago, I had never heard of FOP.

That's because it is such a rare disorder, and not being prone to watch television or pay much attention to the news, any mention of it in those sources would have been easily missed by me.

But thanks to a friend of mine, and an image he showed me, I have since become enthralled by this 'disease'; some may say I have a morbid fascination with it (and though he showed it to me to see how horrified I would get, I felt very far from it). I think this is because I harbor such intense interest for bones and anything to do with bones. This disorder has everything to do with my favorite subject and hobby.

Note the ribbons of bone that form a second 'renegade' skeleton in this scan

FOP stands for fibrodysplasia ossificans progressiva, which means "soft connective tissue that progressively turns to bone." Simply put, FOP causes tissues like muscles, tendons and ligaments to ossify, or turn into bone. Painful, fibrous nodules develop over the neck, back and shoulders of children within the first or second decade of life, and then gradually move into the lower body and the extremities. These lesions harden into ribbons, sheets, and plates of bone that can fuse vertebrae, weld shut joints, even grow in between the ribs and around the jawbones.

Flare-ups (where the body starts generating new bone) occur with varying frequency, and generally lead to tissue swelling and discomfort. They are usually painful; the person may not feel well, and may have a low grade fever. Sometimes stiffness in joints can occur overnight, from the pressure and swelling of the early stages of new bone formation in the muscles. Attempts to remove the bone surgically only cause more explosive growths. Bone growth can also be triggered by bumps and bruises, and even vaccinations.

Skeleton with severe bone growth. Note the ribbon of bone that immobilizes his head and neck.

These bone growths eventually immobilize the person, turning them into a living statue; those who have frozen in a standing position have to sleep leaning in a corner. In the very advanced stages, the person has to decide if they want to live out the rest of their days sitting or standing. The person eventually dies of complications caused by FOP, usually suffocation from the rib cage being immobilized, or starvation when their jaws freeze shut, even heart failure, the muscle exhausting itself trying to pump blood through the increased pressure.

It is a children's disease. About 95% of babies born with the disorder have deformed big toes, telling those who know FOP that the child is affected. However, the rarity of FOP has led to many painful and damaging misdiagnoses, three of the most common being cancer, aggressive juvenile fibromatosis, and progressive osseous heteroplasia. It strikes about 1 in two million people around the world; there are 600 confirmed cases, 230 of which are in the United States.

The characteristic deformed big toes of a child with FOP

X-ray of malformed toes

It is a genetic disease, meaning that it is the result of a mutation in the gene sequencing in one part of the afflicted persons DNA. That is part of what makes FOP such a devastating disease: there is no medication that can fix the error in the gene. There is hope, however: scientists have recently discovered the mutated gene ACVR1 to be the cause of FOP. Researchers are trying to spread awareness of FOP, and families of FOP sufferers and their supporters have been helping to raise money for the study through fund raisers.

It is hoped that learning more about FOP (which makes extra bone) can help with diseases such as osteoporosis (in which the bones are breaking down).

If you wish to learn more: http://www.ifopa.org/index.html]http://www.ifopa.org/index.html

If you wish to donate to the IFOPA (International FOP Association) check out their options and ideas at: http://www.ifopa.org/donate.html]http://www.ifopa.org/donate.html

(c) Neko-chan

Comments 13 comments

SweetiePie profile image

SweetiePie 8 years ago from Southern California, USA

Neko,

I love your knowledge of medical issues and social awareness. Thanks for sharing.


Naomi 8 years ago

That is a fantastic article. What a horrible disease! It is good to be aware of these things.


Amber 7 years ago

Please pray my son is 4 months and is going to the genetic docto on April 7 2009 for possible FOP


Neko-chan profile image

Neko-chan 7 years ago from Launceston, Tasmania, Australia Author

My heart goes out to you and your little one.


matt coles 7 years ago

i too have just learned of this disease. i am now committed to doing everything i can to increase people's awareness. if you've ever thought of doing a charity event but always say you haven't got the time or you don't know what you could do...think. i have a normal life with a 9-5 job. i'd much rather try to help somebody with fop live as normal a life as i can make it.

www.fopaction.co.uk


kylie 6 years ago

i only just saw this on medical diagnosis, ive never heard of it and was amased by it and the fact how many do not know about this, ill be posting this on different sites, thanks for sharing


Clare 6 years ago

I'm a nursing student and im doin a research base on a medical disease. As i was doin my research my eye caught by the image of this bone disease. Because this is one of the deadliest bone diases there is, i decided to do my research on this subject. Im just thankful that i don't have it...but for those who have it may the good lord help you...Peace


jjj 5 years ago

it's terrible, but so beautiful.


Felicia Head 4 years ago

I'm 33 years old and I have this in my skull as well in my neck. Now I just found out last week I have it in 3 of my ribs. I dislike this being in pain all the time. I truly don't understand why know one knows what to do to help someone like me. I have been to many Dr. I steal can't find anyone that can help me. I will continue to try to find someone that can help me and many others that have this.


Melina! 4 years ago

thank you soooo much for posting this, i wanted to use this disease for a bio presentation and your article was a lot easier to understand than wikipedia's, but it was extremely informational. thanks for the help!!


star 4 years ago

Not sure if my baby has this, her father and his sisters and her grandpa have these extra bones on there arms, legs collarbone, and hips some have been removed and no further problem but two of them developed cancer, I hope this isn't what my baby has :( sounds terrible desease


Neko-chan profile image

Neko-chan 4 years ago from Launceston, Tasmania, Australia Author

I am no doctor, so I cannot offer an opinion on what condition your family members have, but I hope that you find out soon so you you can put your mind at ease.


Casey Martin 4 years ago

I am a radiology student seeking x-ray images of this disease. If anyone can help me by sending me x-rays of this horrible disease I would greatly appreciate it. My email address is caseykay21@comcast.net

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