The Stoneman Disease (FOP)
Fibrodysplasia ossificans progressiva (FOP), also known as Münchmeyer disease is a very rare connective tissue disorder. Approximately 800 cases have been confirmed worldwide and reports describing individuals thought to be affected by the disorder date as far back as the 17th century. It is colloquially referred to as 'the Stoneman disease' or 'turning to stone' as over time patients can completely lose all ability to move due to bone growth.
FOP is caused by a mutation of the ACVR1 gene, a gene that affects the body's ability to repair itself. The mutation causes fibrous tissue such as muscle, tendons and ligaments to be ossified or remodelled and changed into bone formation. This new bone formation eventually forms a second skeleton which greatly restricts the person's ability to move.
The first FOP flare-up typically occurs before the age of 10. As the disorder is extremely rare it can be misdiagnosed as cancer or fibrosis initially.
There is no cure or treatment for FOP, attempts to surgically remove bone may result in exasperating the condition further. As even minor trauma can result in dramatic new bone growth patients are advised to avoid activities that risk falling or soft tissue injury. Some patients with the disorder choose the position they would like to remain stuck in.
The best-known case of FOP is Harry Eastlack (1933-1973), his condition began to develop at aged ten and he died from pneumonia at age 39. At the time of his death, Harry's body had completely ossified and he was only able to move his lips. He donated his body to science and his skeleton can be viewed at the Mutter Museum in Philadelphia, USA.
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