Each of us is familiar with insomnia - a painful condition when, despite a strong desire to fall asleep, it is impossible to fall asleep. Sleep is important to us, and a lack of it can provoke a decrease in immunity, the development of mental illness and even lead to death.
This is exactly what happened to the Italian Silvano in 1984. He first developed anxiety symptoms while on vacation while on a cruise ship. He was thrown into heat, then into cold, pupils greatly narrowed. He could not sleep, he suffered from convulsions. Silvano passed away a few months later.
Doctors diagnosed him with fatal insomnia, a very rare disease that is associated with a mutation passed down from generation to generation. Currently, only 24 cases of this disease have been recorded, which were caused by random mutations that arose in people with no family history of the disease.
In addition to hot flashes, pupillary constriction, seizures, people suffer from panic attacks, phobias, loss of appetite and, accordingly, weight loss. The disease progresses rapidly - the patients develop hallucinations, movements become uncoordinated, and gradually the patient loses the ability to move independently, speak, and serve himself.
On average, it takes from 12 to 18 months from the appearance of the first signs of the disease to death. Most often, the disease manifests itself in people aged 32 to 62 years, but cases of its onset are known both in children and in older patients.
By studying Silvano's history, researchers were able to trace the history of the mutant gene back to the 18th century. They revealed that a certain Giuseppe, an Italian aristocrat who was a distant relative of Silvano, who died in 1984, was suffering from the disease. Despite the fact that Silvano's relatives passed all the necessary tests, they chose not to know whether they are carriers of this gene and whether they are at risk of getting sick.
The identified mutation causes the destruction of neurons in the thalamus, which leads to the appearance of symptoms characteristic of the disease. The body is simply unable to enter sleep mode.
There is still no cure for the terrible disease, but there are cases when patients who used sensory deprivation really learned to fall asleep for several hours - this prolonged their lives.
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