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Stone Man Disease

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Submitted By thomaskyzer
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If someone could test my DNA and tell me what disease I would suffer from in the next 25 years, would I want to know the results? In my opinion, I think I would want to know the results. This could help me prepare how to move forward with my life. It would give me freedom to live knowing what will happen instead of wondering what will happen. Having this information would help my family, like I said, be prepared.

The Disease I came across is called Fibrodysplasia ossificans progressiva. This disease is often referred to as Stone Man Syndrome and is a rare genetic disorder. Since the 1800s, there have been references in medicine describing people who apparently "turned to stone"; some of these cases may be attributable to FOP. There have approximately been 700 confirmed cases across the globe from an estimated 2500. The best known FOP case is that of Harry Eastlack (1933–1973). His condition began to develop at the age of ten, and by the time of his death from pneumonia in November 1973, six days before his 40th birthday, his body had completely froze up leaving him able to move only his lips.

Stone Man Syndrome, is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place. (Hense the name Stone Man) Surgical removal of the extra bone growths has been shown to cause the body to repair the affected area with more bone. The cause of Stone man Syndrome is caused by an autosomal dominant allele. The allele has variable expressivity. Most cases are caused by spontaneous mutation in the gametes. Most individuals with Stone Man Syndrome cannot have children. A mutation in the gene ACVR1 (also known as activin-like kinase 2 [ALK-2]) is responsible for the disease. This mutation changes codon 206 from arginine to histidine in the ACVR1 protein. FOP or Stone Man Syndrome is an autosomal dominant disorder that affects individuals who are heterozygous with a homozygous recessive partner, this means if the parents were lucky to have children, their children will have 50% chance of being affected. Two affected individuals can produce unaffected children but the chances are slim. The phenotypes of those who are homozygous dominant have more severe effects compared to those with heterozygous phenotype.

The Symptoms of Stone Man Syndrome are quite unusual. Children born with FOP have deformed big toes, possibly missing a joint or simply presenting with a notable lump at the minor joint. The first flare-up that leads to the formation of FOP bones usually occurs before the age of 10. The bone growth progresses from the top downward, just as bones grow in fetuses.

A child with FOP or Stone Man Disease will typically develop bones starting at the neck, then on the shoulders, arms, chest area and finally on the feet. Specifically, FOP involvement is typically seen first in the dorsal, axial, and cranial regions of the body. Later the disease progresses in the ventral, appendicular, caudal and distal regions of the body. However it does not necessarily occur in this order due to injury-caused flare-ups. Often, the tumor-like lumps that characterize the disease appear suddenly. This condition causes loss of mobility to affected joints, including inability to fully open the mouth limiting speech and eating. Extra bone formation around the rib cage restricts the expansion of lungs and diaphragm causing breathing complications.

There is no known cure for FOP. Attempts to surgically remove the bone result in more robust bone growth and end up causing more problems than solving. While under anesthesia, patients with FOP may face problems, which include difficulties with intubation, restrictive pulmonary disease, and changes in the electrical conduction system of the heart. Activities that increase the risk of falling should be avoided, as injuries from falling can provoke the growth of bone. A few scientists have experimented with a antiangiogenic found in sharks but have had little to no luck in trials.

In conclusion, Stone Man Disease or FOP is very deadly and can be fatal. Despite all efforts there still remains no known cure or treatment for this disorder. The man I mentioned in the beginning did leave some hope for the future cure process. Shortly before Harry Eastlack's death, he made it known that he wanted to donate his body to science, in the hope that in death, he would be able to help find a cure for this little-understood and cruel disease. Pursuant to his wishes, his preserved skeleton is now kept at the Mütter Museum in Philadelphia, and has proven to be an invaluable source of information in the further study of FOP.

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