FOP (fibrodysplasia ossificans progressiva)
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