A rare familial disease that was discovered by chance in the eighties of the last century, for which a cure has not yet been discovered.
Imagine waking up one day and never being able to sleep again, trying over and over and taking sleeping pills and yet your eyelids won't close.
You wish to go back to sleep even if the price is a nightmare that haunts you and disturbs your night, but sleep refuses to visit you, and you visit the doctors in vain. Days, weeks and months trying to sleep, but he avoids you for no reason and without a solution, until your body completely collapses and your eyes are open and cannot close until you die.
You may think that this is a fantasy, but unfortunately it sometimes happens in reality, as it is a genetic condition that affects a number of people and it is called “fatal familial insomnia.”
Sudden stop sleeping
In the late 1970s, one Italian rural doctor found a strange case in his wife's family.
In just two years, Dr. Ignazio Reuter witnessed the death of his two aunts, Elisabetta, in their forties, after they had fallen asleep for months on end.
Reuter noticed that his wife's first aunt seemed to be asleep all the time, but her eyes were open, and her sleeping pills weren't working. After a few months she was no longer able to walk, even talking was considered a great effort and her concentration began to weaken while she was awake all the time, it quickly developed until she died suddenly.
The aunt died less than a year after a mysterious case of insomnia appeared, and then a year later, Elisabetta's other aunt developed the same symptoms and died within a few months, according to " NBC News " (nbcnews).
Doctors did not know the reason, but Reuter did not ignore the matter and kept busy with it, searching and wondering, which led to stimulating the memory of Elizabeth's mother, who had seen these symptoms before, specifically in 1944 when Elizabeth's paternal grandfather fell ill and stopped sleeping for months until he died.
Mysterious disease
Fatal familial insomnia (FFI) is a rare genetic condition that causes insomnia and the inability to sleep. Insomnia gets so bad that it severely affects daily functioning, leading to brain damage and eventually coma and death.
According to Medicalnewstoday , fatal familial insomnia is caused by a genetic defect that leads to the death of neurons in the brain, and can also cause problems with functions such as regulating body temperature.
The change in behavior and the state of insomnia that afflicted his wife’s aunt baffled Reuter, so he began looking into the family’s roots and the medical records of former family members until he found that the causes of death varied between epilepsy, fever and mental illness.
Reuter searched the family tree, visited some of the survivors, told him that their relatives had died of something mysterious, their behavior was changing, their mental performance was impaired, they could not sleep, and some of them were even placed in a mental institution.
His constant search led him to San Servolo, an Italian island in the Venetian lagoon, which used to be a mental hospital. Elisabetta's relatives were inmates there, and it was recorded in their medical reports that they had been dying of insomnia for centuries.
Medical discovery
In 1986 the disease was discovered and called "fatal familial insomnia", and experts estimate that only 100 people from 30 families across Europe, China, Japan, Australia and the United States carry the gene that causes the disease, according to " Webmd ".
Specialists do not consider it insomnia in the known sense, but it is a brain disorder, caused by a defect in the proteins in the brain that leads to its complete damage.
Part of the credit for discovering the disease goes to Elisabetta's uncle Silvano, who developed symptoms in the 1980s, when Reuter was immersed in his medical research on his wife's family.
Reuter offered his wife's uncle to undergo a medical examination to study the change in his behavior and lack of sleep, and because the latter knew that what was happening to him was the same as what had happened to his ancestors before, he immediately agreed and was excited.
Meanwhile, DT Max, an American writer and author, traced the case of Silvano with the help of Reuter, and wrote the book "The Family That Can't Sleep" to chronicle the suffering of the Italian family that inherited the disease for more than 200 years.
Thanks to Silvano
With Reuter's help, Max was able to trace the disease that afflicted that family to the 1860s, when they kept records of births and deaths in churches, and Reuter was able to obtain them.
Silvano underwent rigorous medical research on the brain at the Institute of Neurology in Bologna, Italy, and doctors were amazed by the shape of the brain.
The EEG showed that it was full of tiny holes, like a sponge. It looked similar to the brain of patients with Creutzfeldt-Jakob disease, the human equivalent of mad cow disease.
Silvano died exhausted from lack of sleep, and because of the strangeness of the matter, he sent his "brain" to the United States of America to conduct the necessary studies and discover what the matter was.
Dr. Stanley Prusner, a neurologist in California, discovered the disease and explained it as a disease caused by proteins in the brain, where abnormal proteins can hijack healthy proteins and declare war on other proteins, infecting healthy proteins and leading to death. In 1997, Dr. Prusner was awarded the Nobel Prize in Medicine for his discovery of protein disorders and the secret of "fatal insomnia".
There is no cure
After discovering the rare disease, specialists developed symptoms that indicate its presence in its early stage and tend to appear from the age of 32 to 62 years, among them, according to " Healthline":
-Sleep insomnia
-Difficulty staying asleep
-Muscle tremors and spasms
-Movement and kicking when sleeping
-Anorexia
-Dementia onset
-Symptoms of more advanced nocturnal insomnia include:
-Inability to sleep
-Deterioration of cognitive and mental function
-Reeling
-Increased blood pressure and heart rate
-Excessive sweating
-Difficulty speaking or swallowing
-Unexplained weight loss
-Fever
A rare familial disease that was discovered accidentally in the 1980s, for which a cure has not yet been discovered, but sleep medications provide temporary relief for some people, but they do not work in the long term.
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