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The rarest disease on the planet turns a young girl into a pillar of stone
Last reviewed: 01.07.2025
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Young American Ashley Kerpil suffers from one of the rarest genetic diseases on the planet, which is characterized by additional bone tissue formation – “stone man syndrome”. This disease affects the soft tissues of a person, over time turning them into ossified tissue. However, the girl is not discouraged and strives to experience as much as possible in the time that remains to her (before complete immobility).
The 31-year-old American woman has faced many trials in her life. At the age of three, she was diagnosed with the first symptoms of the rarest disease, which has the scientific name of FOP - ossifying fibrodysplasia progressiva or Munchheimer's disease. But doctors mistakenly took the symptoms of FOP for a manifestation of a malignant tumor - sarcoma. As a result of a medical error, little Ashley lost 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, the incidence of which is approximately one case per million (in medicine, no more than 700 such cases are known).
This congenital disease is characterized by a rather sluggish but progressive course. It is caused by a gene mutation, which triggers the process of transforming cartilage and muscles into secondary bone tissue. The disease was first described in 1648, since then mainly isolated cases of the disease have been observed, but in the world literature there was a description of a family disease of OPF. Until now, a treatment for this type of disease has not been developed, but scientists are actively developing in this area and have already managed to achieve certain results. But before the method is used on humans, it is necessary to conduct a series of experiments on animals.
In Ashley's soft tissues, especially tendons, muscles, and ligaments, inflammation regularly begins. However, the American woman's body reacts to inflammation in a very unusual way - a calcification process begins at the site of inflammation, which leads to ossification of soft tissues. The young woman tries to live her life as fully as possible. At thirty-one, she managed to get married, met the spiritual leader of all Buddhists - the Dalai Lama, and recently surfing has become her hobby. The optimism, cheerfulness, and resilience of the young American woman can be envied. She does not become despondent and tries to move while it is still possible, until the disease has completely affected her and immobilized her.
According to Ashley, as a result of her serious illness, her character has become stronger, she always achieves all the goals she sets for herself. Neither Ashley nor the doctors can say for sure how long she will retain the ability to move, so the woman strives to experience as many sensations in life as possible.
Now Ashley can no longer straighten her knee joints, and over time the disease will affect the lumbar region, in which case she will forever lose the ability to sit.