"FOP is a particularly cruel disease because, at a time when children are becoming adolescents and adults, at a time when they're trying to become more independent, their bodies are betraying them because of this mutation and they're becoming more dependent rather than less dependent," he said.
The scaffolding turns to cartilage, on which the new bone begins to grow. Stem cells harboring the FOP gene are then awakened and start to divide and build a scaffold of sorts from connective tissue. Kaplan explained how it happens: Intense inflammation erupts around the blood vessels in the muscles and destroys muscle tissue. But about 80 percent of the time, the flare-ups occur for no known reason at all, Kaplan said. These "flare-ups" can be triggered by the mildest injuries, such as bumps and bruises. Starting in the preschool years, FOP patients usually start to develop severe swellings in the body's skeletal muscles that look like tumors. He said the bumps are not an issue but are "a harbinger of things to come." Kaplan said patients with FOP are born with the bunion-like bumps - which are not bunions at all but malformations. He said FOP patients have an overactive copy of the abnormal gene that sends signals to the body's muscles and soft tissues - especially after an injury - telling the muscles to repair themselves by forming bone rather than muscle or scar tissue. It is caused by mutations in a gene called ACVR1, which regulates bone growth and turns cartilage to bone as children grow up.įrederick Kaplan, Floyd's doctor and head of the Division of Orthopaedic Molecular Medicine at the University of Pennsylvania's Perelman School of Medicine, said he and his colleagues discovered the FOP gene in 2006. My jaw gets tired easily."įOP is a rare and debilitating disorder that plagues about one in 2 million people worldwide, according to data from the National Institutes of Health. I never used to have any dietary needs, but now I have to avoid crunchy or chewy foods. "I've accepted it the best I can, but it's not something I can put behind me," she said.
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