Thursday, February 9, 2012

This is the report I did for Word Pro. Fibrodysplasia Ossificans Progressia Fibrodysplasia Ossificans Progressia, or FOP, is an extremely rare, congenital( or present at birth), genetic disorder where muscle tissues, including ligaments and tendons, are ossified, or replaced by bone over time. This disease forms extra- skeletal bone that restricts movement. The body “...forms a second skeleton...” (How FOP Works by Katie Lambert). It is the only known condition where the body can literally take one organ system and turn it into another. FOP is caused by a mutation on the ACVR1 gene. This gene carries instructions on production bone morphogenetic protein (BMP) which controls the growth or bone and muscles, such as the replacement of cartilage with bone. The mutation of the gene cause the BMP receptors to never turn off, constantly signaling the body to form bone. FOP is completely random in that the mutation is different every time. It can be inherited, following an autosomal dominant pattern, meaning one copy of the broken gene is needed in each cell. Usually, the patient has no family history of the disease. FOP is so rare, it affects only 1 in every 2 MILLION people. This disease follows no racial pattern like Sickle Cell. There are only 700 cases confirmed world wide and only 185 in the United States. “Childhood and adolescence [is] the most difficult time(s)...[because] FOP seems to be most active...” FOP Patientʼs Story. Most patients are diagnosed by age ten, with bone ossification starting at age 5. There are only a few signs and symptoms of FOP and many of them are consistent with other diseases, such as cancer. An “...early indicator of FOP.” (How FOP Works by Katie Lambert) is malformed toes that are observable at birth. This is the number one sign of FOP. Fibrodysplasia Ossificans Progressia often starts in the neck and shoulders, progressing down the body. There will be inflammation and swelling, with tumor- like lesions. Affected areas can be red, painful, and hot to the touch. Often there is a fever associated. Sometimes, like with bone cancer, a patient will experience a trauma that cause a soft- tissue growth. Combine the lack of symptoms with the rarity of the disease and FOP is extremely hard to diagnose, mostly because it isn’t something doctors think to test for. The main diagnostic tool is genetic testing. They will also do x-rays and MRI’s. A skeletal survey will be done. This disease should be diagnosed prenatal but it isn't always. Unfortunately, there is no cure for FOP and no proven, effective treatment. There has been research done for possible medication-based treatments and gene therapy. FOP is extremely unpredictable therefore it is difficult to asses. FOP bone can be removed but it only makes the disease more aggressive. The treatment proven most effective is anti-inflammatory drugs but anti-angiogenic drugs (drugs that stop the formation of blood vessels which bone needs to grow) have also shown promise. Fibrodysplasia is a terrible disease. Most patients are lucky to live to adulthood because their bodies form so much bone that their internal organs are crushed. The problem with rare diseases is knowledge and funds are limited when it comes to researching cures. What we need to think about is what if it was you or your family/friend?

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