The Twists And Turns Of Rare Genetic Disorder: FOP
What is FOP?
Fibrodysplasia Ossificans Progressiva (FOP) is also called as “stone man disorder”. It is a connective tissue disorder and is quite rare. A transformation of the body’s healing mechanism triggers fibrous tissue to be solidified when damaged. The tissues here include muscles, tendons and ligaments. In many cases, the damage can lead the joints to become permanently rigid. Getting rid of the bone by a surgery has also turned out a major cause to restore the affected area with additional bone.
What causes Fibrodysplasia Ossificans Progressiva?
FOP is triggered by an “autosomal dominant allele” on a particular chromosome. Many of the cases occur due to impulsive transformation in the gametes (reproductive cells). The most unfortunate fact of people is that people suffering from FOP cannot have children. A recent study found out that FOP affects one in every 3 million people. Kids born with this disorder have big distorted toes, missing joint or lumps at minor joints. In most of the cases, kids develop bones that show up at neck, shoulders, arms, chest and feet.
The gene that triggers solidification is disabled after fetus’ bones are formed inside the womb, however when talking about adult FOP patients, the gene remains in working condition. As this bone disorder is very rare, it is often misdiagnosed as either cancer or fibrosis.
Seanie Nammock is a 17-year-old girl, who suffers from FOP. Seanie is a unique creation of God and with her stylish looks and never-to-say-die-attitude, she still manages to live her life on good terms, says her mother. Her condition has turned worse than before. She cannot perform any work on her own without assistance, as her arms have become immobile, sealed in a twisted position that makes it look like a statue.
Seanie was only 12 years old when she met with an accident and fell on her back. For some time her condition was normal until the day when she could not bear the pain. The bigger bump on her back, the more pain she had to bear and even the doctors could not do anything.
How terrible is this problem?
Seanie often complaints about the unwanted bumps on her back and legs, as the bumps are quite painful for her. However, she can take a few medicines to relieve the pain, but not injections, as these can cause a bone to develop. Her condition has indeed become so severe that she cannot balance herself for more than five minutes and hence needs support.
Seanie has been battling with this disorder for the past five years. Before that, she lived a normal life until she met with an accident. Though her mother put all her efforts to give her daughter the best medical treatment, she was shocked to hear that there is no cure for this problem. She is a big sport enthusiastic and simply adores playing rugby with her friends. Despite of suffering from this gruesome medical disorder, which turns the tendons and ligaments into solid bones, Seanie on the other hand has taken her life’s battle in a good spirit.
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Jenny Arthur is a full time content writer and she has penned tons of articles on numerous health topics. She is a health blogger and keeps her avid readers updated with her latest posts on medexpressrx.com.