(ORDO NEWS) — Problems with normal sleep are known to many people. Someone is tormented one night, someone longer, but then, as a rule, everything normalizes. Usually such an unpleasant situation resolves by itself. But what if you could not sleep for months or even the rest of your life?
In 1964, an American schoolboy Randy Gardner conducted an experiment, setting a record for the duration of wakefulness – he did not sleep for 11 days and 25 minutes.
Being in very good shape, Gardner could play sports even in the absence of sleep, but his cognitive and sensory abilities, thanks to which we feel and perceive the world around us and ourselves, gradually decreased.
The more Gardner did not sleep, the more irritated he became, over time he began to experience difficulty with concentration, he had hallucinations and problems with short-term memory. When the student’s health was at risk, the experiment was stopped.
But experiments are one thing, and sometimes there is such a thing that experts have called “fatal familial insomnia,” it ends in disastrous condition.
When the disease appeared …
It is believed that this disease was first discovered in the 18th century by a Venetian doctor who suddenly fell into a motionless stupor. Later, the same thing happened with his nephew Giuseppe, from him the disease began to be transmitted to descendants by inheritance.
However, they began to study fatal family insomnia only in the 70s of the last century, when the Italian doctor Ignazio Reuter unsuccessfully tried to help his wife’s aunt. Despite all the efforts of the physician, a woman suffering from insomnia practically could not sleep normally.
Her condition worsened, and a year later she fell asleep, but already an eternal dream. A relatively short time passed, and similar symptoms appeared already in the sister of the late aunt. The inability to help relatives, as well as professional interest prompted Dr. Reuter to make a request to a psychiatric clinic, where the grandfather of the deceased women was treated at one time. The medical history showed that an elderly person had similar symptoms.
This result made it possible to assume that physicians were faced with a disease that was in the nature of a hereditary pathology. In 1983, the disease struck another family member – this time his wife’s uncle fell ill as a younger brother to women who were struck by a strange disease. After the death of a man, there was no doubt – the disease is hereditary. Ignazio Reuter documented the entire course of the disease, and after a sad outcome, he ensured that the patient’s brain was sent for research to the United States.
Cause of disease
It was possible to establish the cause of the disease in the last years of the 20th century – it turned out that in the 178th gene of the 20th chromosome, aspartic acid was replaced by aspartic itself. This leads to the fact that a safe protein molecule changes its shape and turns into a pathogenic prion. Further, the prion begins to act on other protein molecules, which also degenerate. As a result, amyloid plaques form in the thalamus (the brain department responsible for sleep), which cause sleep disturbances.
Depending on the mutation, the gene can cause various cognitive disorders and neurodegenerative diseases, such as rabies in cattle, Creutzfeldt-Jakob disease, and fatal familial insomnia in humans.
The disease is inherited by the dominant allele, so if both parents are healthy, then nothing is threatened by the children (exceptions are extremely rare mutations). If one of the parents is sick, then the probability of transmission of the disease by inheritance is 50%.
In total, about 40 families are now found in the world who suffer from fatal familial insomnia. The disease itself manifests itself exclusively in adults aged 30 to 60 years and lasts from 6 to 48 months. Since the disease is hereditary, its treatment, by definition, is extremely complicated, at the moment the medicine has not yet been created.
What happens to a person who has lost sleep
Fatal familial insomnia occurs in 4 stages. Their duration is different, averaged data will be indicated here:
- The disease begins suddenly and for no apparent reason, at first there is simply a disturbance in sleep, which increases with time and turns into real insomnia, which is accompanied by panic attacks and unreasonable fears. This stage lasts about four months.
- In the second stage, which lasts five months, panic attacks intensify and hallucinations appear.
- In the third stage, which lasts about three months, sleep deprivation causes rapid weight loss and impaired cognitive processes.
- Finally, in the fourth stage (which lasts six months), patients begin to suffer from dementia, in which there is a degradation of memory, thinking, behavior and the ability to perform daily activities. Awakening of consciousness is still occasionally possible, but such outbursts of the mind are less and less and last longer. All that can help the patient is physical and moral support. At the end of the fourth stage, patients fall into a coma, then a fatal outcome occurs.
One of the patients, known as Daniel, has long struggled with the effects of the disease. He took vitamin supplements and went in for sports to improve his overall physical condition.
When the vitamins stopped working, Daniel began to take anesthetics, thanks to which he managed to fall asleep for a short time, for about 15 minutes.
Once during the treatment, he had a microstroke, and he slept for three days. He even acquired a capsule of sensory deprivation. This is an egg-shaped capsule that almost completely limits the visual, auditory, olfactory and tactile sensations of the person who is in it.
A device invented to stimulate muscle and mental relaxation did him more harm than good. While in the capsule, in the absence of external stimuli, Danielle began to suffer from hallucinations, not knowing whether he was alive or dead.
Although two years after the onset of the disease, Daniel’s heart stopped, he was able to live longer and more efficiently than would have been expected with his diagnosis.
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