Stone Man's Disease Research Paper

Fibrodysplasia ossificans progressiva (often called FOP, or Stone Man’s Disease) is an incredibly rare disease that directly affects the patients connective tissue. The name means “soft connective tissue that progressively turns to bone.” FOP is a result of a mutation in the body’s tissue repair structures, which will cause fibrous tissue to turn to bone, or become ossified, randomly or upon tissue damage. In the majority of cases, any injury can cause the affected joints to become frozen in place indefinitely. Removal of the newly ossified tissue is counterproductive, as the attempt at repairing the tissue will simply signal the tissue to regrow ossified. A main characteristic of FOP is lumps that will appear on the body. These lumps can appear
Because of this, FOP is often misdiagnosed as cancer or fibrosis. This mistake can lead to dire results, as any attempt of treatment, often a biopsy, will only exacerbate the development of ossified tissue. For reasons unknown to doctors, children born with FOP often have deformed big toes. It is thought that this could be caused by a missing joint or a minor lump on the joint. The first instance of lump flare-ups will usually occur at or before age ten. The course of ossifying tissue will usually progress from the top of the body down, mirroring the formation of bones in a growing fetus. Growth will generally begin at the neck in most examples, and then spread to the shoulders, arms, chest, and then work its way down to the feet. In some cases, bone growth is not dependent on damage done to the tissue. The lumps caused by FOP can appear suddenly and at random. They can appear all over the body, typically the mouth and chest and rib cage. These can lead to trouble speaking and eating, and in the chest can restrict the lungs and diaphragm which can lead to breathing
The disease was later renamed in 1970 after it had been discovered that tissue other than muscle could be directly affected by the disease. The most famous case of FOP is that of Harry Eastlack (1933-1973). Similar to the majority of cases, his condition started to progress around the age of ten. He died six days before his fortieth birthday from pneumonia in 1973. By this time, almost all of his joints and body had been completely transformed into bone. He was only able to move his lips; all other joints had become locked in place permanently. Before his death, he had made it known that he wanted his body to be donated for scientific research. He had hoped that researches could find a cure for people suffering from FOP, in hopes that they will not share the same fate as him. His skeleton is not kept at Mutter’s Museum in Philadelphia, and has been an invaluable resource for the study of this disease. Due to the diseases extreme rarity, there is very limited research done on it. In the future, many hope that significant research will be conducted that will eventually find the ultimate cure for this incredibly debilitating and deadly