The rarest disease on the planet turns a young girl into a stone pillar
Last reviewed: 16.10.2021
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Young American Ashley Kerpil suffers from one of the most rare genetic diseases on the planet, in which there is an additional formation of bone tissue - "stone man syndrome." This disease affects the soft tissues of a person, eventually turning them into an ossified tissue. However, the girl does not lose heart and wants to experience as much as possible during the time that she still has (until complete immobility).
The 31-year-old American woman encountered many challenges on her way of life. In three years she had the first symptoms of the rarest disease, which has the scientific name OPF - ossifying progressive fibrodysplasia or Munich disease. But doctors mistakenly accepted the symptoms of OPF for the manifestation of a malignant tumor - sarcoma. As a result of a medical error, a small Ashley stripped her right arm, which was amputated by surgeons. Later it became known that there was no malignant tumor at all, and all the symptoms were related to a rare disease, according to the frequency of occurrence, there is approximately one case per million (in medicine, such cases are known not more than 700).
This congenital disease is characterized by a rather sluggish, but progressive course. It is caused by a gene mutation, as a result of which the process of transformation of cartilage and muscles into secondary bone tissue is started. For the first time the disease was described in 1648, since then there have been mainly separate cases of manifestation of the disease, but in the world literature there was a description of the family disease of OPF. Until now, treatment of this type of disease has not been developed, but scientists are actively developing in this area and they have already managed to achieve certain results. But before the method is used in humans, it is necessary to conduct a series of experiments on animals.
In the soft tissues of Ashley, especially the tendons, muscles, ligaments, the inflammatory process starts regularly. However, the American body reacts to inflammation in a very unusual way - in the place of inflammation begins calcifying process, which leads to ossification of soft tissues. A young woman tries to live life as fully as possible. In her thirty-one she managed to get married, met with the spiritual leader of all Buddhists - the Dalai Lama, and recently her hobby was surfing. Optimism, cheerfulness and perseverance of a young American woman can be envied. She does not get discouraged and tries to move while it is still possible, until the disease strikes her completely and does not immobilize her.
According to Ashley, as a result of a serious illness, her character has become firmer, she necessarily achieves all the goals set for herself. Neither Ashley nor the doctors can reliably say how long she will have the ability to move, so the woman seeks to experience as much sensation as possible in life.
Now Ashley can no longer unbend the knee joints, eventually the disease will affect the lumbar region, in which case she will forever lose the ability to sit.