Not every disease is well known throughout the scientific community. Many disorders and illnesses baffle doctors and scientists today even with our modern technology. Fibrodysplasia ossificans progressive, also known as FOP, is a rare disorder that affects 1 of 2 million people, where a person grows a second layer of bone around their skeleton. Even though we are researching cures today, to help progress future cures we need to inform the public of how FOP functions.
The earliest documented occurrence of FOP dates back to the 17th and 18th centuries, where doctors were confused by this mysterious disorder. In 1692, a French physician named Guy Patin encountered a patient who had FOP and wrote in his writings about a woman who he thought “turned into wood”. The wood was actually the formation of new bone. In 1736, the British physician, John Freke, described a diagnosis of an adolescent who had swellings throughout his back, he described them as large tumors. Through the help of these records and our own observations, we learned what FOP does to the human body.
There is a lot about FOP that we still need to uncover, but we do know the symptoms. FOP is a disorder that causes a person’s muscle and connective tissue, such as ligaments and tendons, to slowly be replaced by bone. This is done through a process known as ‘ossification’, where bone forms outside of the skeleton. This constrains the affected person’s ability to move. For some people the bone growth is a rapid event. While others experience a gradual progression of bone formation. Currently, doctors cannot predict the rate of growth.
The vert first sign of the disorder, which are visible at birth, are the malformation of the person’s toes, which present as short, bent, and at times curved. Usually before the person reaches the age of ten, they experience inflammation and sometimes painful swelling, commonly in their back and shoulder area and at times their head and scalp. These usually take on the appearance of large tumors. If the person has experienced any physical trauma might trigger episodes of inflammation and swelling that is followed by an increase in ossification in the area of injury.
At first the areas that have been affected can be red and painful, potentially hot to the touch, which are common symptoms of inflammation. Parents of children with FOP have also noted that their children experience fever in addition to these symptoms. Parents can also be the ones who are infecting their children. FOP is inherited through the father, which causes a mutation in a bone production gene. It is caused by mutations in the ACVR1 gene. The ACVR1 gene provides the instructions needed for the production of a member of a protein family called “bone morphogenetic protein type I” receptors.
The protein helps with controlling the improvement and development of a person’s muscles and bones, including ossification that happens in normal skeletal development as a person ages from birth to young adulthood. Doctors are now gaining a grasp of how to diagnose FOPA conclusive analysis of FOP relies on upon hereditary testing and observation of extra symptoms the individual is encountering that are connected with the disorder. An X-ray revealing extra bone, for example, is one way doctors can discover if the patient has the disorder or not.
FOP being so rare has caused a wide ray of doctors to mistakenly diagnose kids with cancer. The procedure of diagnosing FOP can take months, or even years because of its rarity and unfamiliarity on the part of doctors. Explanations that families are commonly provided are fibromatosis and cancer. Although doctors have tried several ways of stopping the disorder, they have not made a breakthrough. As of now, there is no known cure or successful treatment for FOP. Surgical endeavors to expel heterotopic bone shows the danger of inciting difficult and hazardous new bone development in persons with FOP.
Biopsies of FOP injuries is something that doctors are not willing to do because of the fact that they can bring about extra heterotopic solidification in the individual being biopsied. Treatment and way of life changes may diminish manifestations, diminish the danger of flare-ups, and prevent complications of FOP. The unpredictable way of FOP frequently makes it difficult to evaluate any therapeutic intervention because of the fact that the disorder can come and go. Currently there is no way of preventing FOP, but research for drugs to prevent FOP have already begun.
Although there is no way to prevent inflammation and painful swelling caused by FOP, there are ways to help keep it under control. Affected persons can use mobility assisting devices such as canes or wheelchairs. They are encouraged to have an active range of motion in a joint as long as it is comfortable for the patient. Low-intensity and low-impact exercise is important in maintaining muscle and cardiovascular strength. They should also avoid tight clothing, have good oral hygiene, and avoid unnecessary intramuscular injections. Anti-inflammatory drugs can also help reduce pain and inflammation during flare-ups.
People affected with FOP have a dramatically reduced life span due to complications with the growth of extra bone. Persons influenced by FOP encounter an inability to completely open their mouth, conceivably bringing about eating and talking challenges. Over the long haul, they can encounter hunger because of issues with eating, and additionally breathing challenges because of the additional formation of bone around their rib cage, which restricts the expansion capacities of their lungs. Even with current day technology, people affected with FOP have a dramatically reduced life span.
The average time of death is around 40 years old. The most well-known reasons for death in patients with FOP were cardiorespiratory failure from the rib cage being constricted and starvation as the person’s jaws become locked in place. Even though we still do not fully understand this mysterious disorder, we are learning every day. Through discovering the first recorded occurrence, knowing the symptoms, how it is caused and how to ease the pain of those affected, we are so much closer to discovering the cure. Though we still have a lot of work to do.
