Stone Man's Syndrome Research Paper

Stone Man’s Syndrome Fibrodysplasia ossificans progressive, more commonly known as ‘Stone Man’s Syndrome’ or the abbreviation ‘FOP’, is genetic disease involving the body’s connective tissue. It is one of the medical world’s most rare and debilitating illnesses. As its common name says, Stone Man’s Disease causes “bone tissue begins to grow where muscles, tendons, and other connective tissues should be, effectively restricting movement” (Torres, 2013). As a result, the boy’s ligaments, tendons, and muscles form into solid bone. The individual with the disease will eventually develop a second skeleton over top of his/her original one (Panter, 2013). Fibrodysplasia ossificans progressive is the only documented medical condition in which a normal functioning organ system turns into another (FOP, 2009). Because “the heart and other organs are made up of a different kind of muscle, they do not grow bone tissue” and remain unaffected by the disease’s effects (Torres, 2013). Because Stone Man’s Disease turns the body’s muscles, tendons, and ligaments into solid bone a person with the
disorder will experience restrictive movement that will become worse and worse as time goes on. Each section of the body that becomes grows solid and unmovable, effectively turning the person into a “living statue.” People inflicted with FOP experience flare-ups of the disease spontaneously. The flare-ups result in “ribbons and sheets of bone that fuse the joints of the axial and appendicular skeleton, entombing a patient in a skeleton of heterotopic bone” (FOP, 2009). Though the disease’s flare-ups mostly occur randomly, they can also happen following any type of physical trauma. Even something minor like a small bump or routine needle injection “can trigger a painful growing spurt that adds to the second skeleton” (Panter, 2013). As a result, everyday life is a constant challenge for those with Stone Man’s Disease. In the United Kingdom, fifteen-year-old Seanie Nammock cannot have any painkilling injections when she visits the dentist because the “trauma of having a needle pushed into her gums could spark an agonizing growth spurt in her jaw” (Panter, 2013).
As of 2013, the second skeleton has only affected Nammock’s upper torso; she can still walk and move around on her own. However, her family lives in dread of the day when the condition will spread to her lower body. Once the disease starts spreading to her legs, “she will have a life-changing decision to make about whether she wants to stay in a sitting-down or lying down position - because that 's how she will be for the rest of her life” (Panter, 2013).
Fibrodysplasia ossificans progressive is the result of a genetic mutation on the ACVRI gene. The ACVRI gene “provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone” (FOP, 2009). The condition is “inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder” (FOP, 2009). The vast majority of Stone Man’s Disease cases result from new mutations of the gene; in short, the disorder can occur in an individual who has no history of the disease in his/her family. A person who has Fibrodysplasia ossificans Progressive as a result of inheriting it from an affected parent is rare because most people with the illness are unable to have children (FOP, 2009).
Because the disorder is caused by a random genetic mutation rather than being inherited, it is extremely rare.
Very few doctors and medical professionals ever encounter it during their years in practice (FOP, 2009). It is estimated that it affects approximately one in every two million people and there are only 800 confirmed cases around the world (FOP, 2009). Because Stone Man’s Disease is so rare, it is commonly misdiagnosed. “Misdiagnosis rates for FOP have previously been reported to be in the range of 80% or greater” (FOP, 2009). The disorder is most often misdiagnosed as cancer, aggressive juvenile fibromatosis, and fibrous dysplasia (FOP, 2009). Doctors need to take extra measures to make sure they do not misdiagnose someone with Stone Man’s Disease because surgery and other trauma to the muscles can make the disorder worse by triggering a flare-up (FOP,
2009).
Currently, there is no known cure for Stone Man’s Disease (Torres, 2013). The only treatment available to those living with the disease is pain and inflammation medications. Despite there being no way of ridding a person of the disorder or reversing its symptoms, there is reason to remain hopeful. In 2006, researchers at the University Of Pennsylvania School Of Medicine, “the only laboratory in the US dedicated to FOP research, announced the Discovery of the FOP Gene” (FOP, 2009). The discovery of this will hopefully make future research into cures and better treatments for Stone Man’s Disease more efficient.
Bibliography
"FOP Fact Sheet." FOP Fact Sheet. IFOPA, 3 July 2009. Web. 14 Oct. 2013.
Panther, Lewis. "17-year-old with Stone Man Syndrome Is Growing a SECOND Skeleton and Could Turn into a Living Statue." Mirror News. Mirror News, 28 July 2013. Web. 14 Oct. 2013.
Torres A. "10 Strange Medical Conditions You’ve Never Heard Of." Listverse. Listverse, 17 Aug. 2013. Web. 14 Oct. 2013.