Three-year old Joshua Scoble from Pennsylvania seems like an average, fun-loving toddler. However, he is battling a rare genetic disorder that is slowly taking over his muscles: fibrodysplasia ossificans progressiva, or FOP.
The disease is slowly turning all of Scoble's soft tissue into bone. It is very likely that one day he will be completely immobile as a result. Only 700 cases of fibrodysplasia ossificans progressiva have been confirmed in the entire world.
Fibrodysplasia ossificans progressiva is a disabling disease. Not only does it turn muscles, tendons, ligaments, and connective tissues into bone, but bridges of extra bone develop across joints. Eventually, the patient's body has a second skeleton that restricts movement to the point of immobility. Unfortunately, the majority of cases are initially misdiagnosed as cancer because of its rarity and confusing symptoms.
The earliest detectable symptom of fibrodysplasia ossificans progressiva is the malformation of the big toe on both feet of the patient, which can be observed at birth. The toes are short, bent, and sometimes curved inward. This malformation is always associated with the disease.
The disease is congenital, which means it is present from birth, but the extra bone is not formed before birth. The bone formations usually begin within the first twenty years of life, and often begin in the neck and shoulders, progressing along the back, trunk, and limbs of the body. Different patients with fibrodysplasia ossificans progressiva experience different rates of bone formation. There is a pattern, though, in that the bone formations in the neck, shoulders, and upper back early in childhood, and in the hips and knees during adolescence or early adulthood.
There is currently no cure and no effective treatments for fibrodysplasia ossificans progressiva. In fact, experts have shown that surgery makes the condition worse since flare-ups can occur after bodily trauma like surgery, childhood immunizations, viral illnesses, and falls while playing.
NBC's TODAY Show recently highlighted Scoble's story. Experts hope that by sharing information about fibrodysplasia ossificans progressiva, and making people aware that this rare genetic disease does affect 1-2 million people, work can be done toward effective treatments and eventually a cure for it. Also, as information is shared about the disease, it becomes less likely that it is misdiagnosed, and people with it can get the care they need.
To learn more about Joshua Scoble or to make a donation to help find a cure, visit . For more information about rare disease, you can visit the online.
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