Fibrodysplasia is a terrible disease that turns a person into a bone idol

There are many terrible diseases in the world that modern medicine has not learned how to fight. One of them is Fibrodysplasia (Fibrodysplasia ossificans progressive — FOP) or Munchmeyer's disease, which turns muscles, ligaments and tendons into bone tissue. Fortunately, this genetic disease is very rare — there are about 700 people with this diagnosis in the world. They all live in the hope that science will find a cure for their disease, but so far the doctors have not been very successful in this.

Fibrodysplasia is sometimes called "stone man syndrome". It is enough to look at the skeleton of an unfortunate person with this disease to understand why. The Mutter Museum at the College of Physicians in Philadelphia houses two exhibits invaluable to science — the skeletons of a man and a woman who suffered from abnormal bone growth.

Even doctors who have seen a lot of anomalies, these skeletons cause shock. They did not have to be fastened with wire or glued together, as is customary when connecting bones into a complete skeleton — they already represent a single whole. The bones of these people are not just fused, they are covered with spikes, growths and ridges, sometimes merging into a real shell.

One of these creepy skeletal skeletons, which can hardly be called skeletons, belongs to Harry Raymond Eastluck, the most famous patient with FOP. He was born in 1933 in Philadelphia, a completely healthy child, except for one small thing. The baby had crooked big toes, which almost always indicates a genetic disease.

At that time, the doctors did not pay any attention to this, but even if they managed to diagnose fibrodysplasia, it was still impossible to help Harry. Until the age of 4, FOP did not make itself felt in any way and it all started with an accident. While playing outside with his sister, Harry was hit by a car and suffered a broken leg. As it should be in this case, the doctors joined the bones and put on a cast, but the leg did not heal.

Istlak wore the cast longer than it should, but when it was removed, it turned out that the bone at the fracture site was inflamed. Soon it was hard for Harry to walk even on crutches — the mobility of his knee and hip joints began to decline rapidly. X-ray examination showed that the boy began to grow bone tissue on his legs and back.

It was decided to carry out a series of operations to relieve the child from suffering and restore his mobility, but they only aggravated the patient's condition. After 11 operations, growths began to appear all over the boy's body, including on his head, neck and chest. The doctors just threw up their hands and stopped trying to treat the young patient in an operative way — they could only observe the course of his illness.

Harry Eastluck was a courageous child — until the disease completely deprived him of the ability to move, he tried to live a full life. The boy, overcoming the pain, played with his peers, listened to music and went to the cinema with his sister. In the nearest cinema, a special place was equipped for the patient in the middle of the seventh row, where Harry could sit comfortably with his stiff leg and deformed spine growths.

But the disease progressed and soon I had to forget about the simple joys of childhood. By the age of 12, Harry could no longer move around on his own, get dressed and even go to the toilet. At the age of 15, his jaw fused with the skull and the teenager switched to liquid food. It also became difficult to speak — Istlak pronounced the words slowly and unintelligibly.

After a while, the hands lost their mobility — they fused with the chest. The muscles and ligaments of the neck hardened and turned into a kind of bone armor, preventing you from turning your head. By the age of 20, Harry could only move his tongue, eyes and lips. He became completely helpless and dependent on his parents and medical staff.

Fibrodysplasia is accompanied by many disorders in the work of organs and the endocrine system, so patients with FOP do not live long. Harry Eastlack died before he reached his fortieth birthday in just 6 days. Shortly before his death, he made a will in which he asked to transfer his body to scientists studying his illness.

His will was fulfilled and the doctors had incredibly important material to study. As a teenager, Istlak began to keep a diary of his illness, where he described its symptoms and his feelings. Together with his deformed skeleton, these records became invaluable for medicine and were able to answer many questions.

Fibrodysplasia was first described as a separate disease back in the 17th century, but for more than 300 years doctors did not know the causes of this condition. By the beginning of the 20th century, only 100 cases of FOP were described in medicine, and only skeletons of infants with growths or individual parts of patients' bodies were at the disposal of scientists.

One of the most prominent researchers of fibrodysplasia, Julius Rosenstirn wrote about the disease in 1918 the following:

Surprisingly, the cause of FOP was only discovered in 2006. Severe disease is caused by a mutation of the ACVR1 gene, and it is inherited. It is not necessary that there will be patients with fibrodysplasia in the genus of the carrier of the damaged gene — most often the family learns about the genetic problem only when the first patient appears.

Since 1973, the skeleton of poor Harry Eastlak has been standing in the window of the museum in proud solitude, but in 2008 another one appeared nearby, but already female. Philadelphia resident Carol Orzel was born in 1959 and her fate was very similar to that of Harry. Gradually losing mobility, the woman struggled with the disease with all her might, trying to live richly and not give up.

Carol loved to draw and when FOP took away the mobility of her arms and neck, she used special equipment to work. Prismatic glasses allowed her to look down and around without turning her head, and a long stick with a clip on the end allowed her to draw with a brush and pencils. The same simple device helped Orzel to apply makeup — despite a serious illness, Carol loved to dress beautifully and make up for the arrival of visitors.

Dressing for a sick woman was a real torture, so she was sewn to order special dresses and suits of loose fit, parts of which were connected with "Velcro" and zippers. Carol spent her last years in the same invalids' home where Harry ended his days. One day a woman visited the Mutter Museum and saw the skeleton of Istlak in the window. After that, she also bequeathed her body to science and in 2008 another creepy exhibit appeared behind the glass.

Fibrodysplasia is very rare, but even less often people show symptoms of "Benjamin Button disease" — mandibuloacral dysplasia. With this disease, children look like old people and have a corresponding state of health.