January 26, 2016 6:56 pm

The “Curse Disease” That Could Make You Stop Sleeping

Infossible_Fatal-Insomnia

While mostly successful people like Leonardo Da Vinci or Thomas Alfa Edison are a short sleeper who only sleep two up to four hours a day, these people able to not sleep for a year. This is not a short sleeper anymore, but this is a condition called fatal insomnia or fatal familial insomnia (FFI).

Back in 1980s, a 53-year-old venetian man named Silvano was on a cruise ship when the family curse struck, make his body drenched in sweat, and his pupils turned into tiny black pinpricks. It was the same glassy-eyed stare that had afflicted his father and two sisters at the beginning of their mysterious illnesses. That was the first sign of fatal insomnia, the devastating illness that had killed dozens of Silvano’s family. Silvano then checking himself into the University of Bologna’s sleep unit, and the doctor said to him that his life will be end within eight or nine months.

“He said, ‘I’ll stop sleeping, and within eight or nine months, I’ll be dead,’” 

Silvano’s family have mostly remained silent about their struggle with FFI, but about 15 years ago they opened up about their history to the writer DT Max, whose book The Family Who Couldn’t Sleep offers an engrossing portrait of a family living in fear of their own genes. Silvano died less than a couple of years later, but he left his brain to science, hoping it might shed some light to cure the “curse” disorder that had plagued his family. The scientists did their job properly. From years of research, now the scientists found the causes of fatal insomnia, which thought to affect just 100 people worldwide.

Fatal insomnia happens when proteins called prions become misshapen and start folding abnormally in the brain which causing brain damage. This can either occur as a result of a tiny genetic mutation – in which case the disease is called fatal familial insomnia – or randomly, which is known as sporadic fatal insomnia. The misshapen prions begin to poison nerve cells in a walnut-sized part of the brain called the thalamus, which controls the unconscious actions. It also regulates the body’s unconscious actions, including hormone levels, temperature, blood pressure and heart rate. When doctors examined Silvano’s thalamus after his death, it looked like it was riddled with worm-holes.

Infossible_Fatal-Insomnia-2In healthy people, at night, hormone levels alter and blood pressure is dropped to induce slumber. But for those with fatal insomnia, these actions don’t happen and so they remain awake, in a permanent pre-sleep state. Where blood pressure typically drops before sleep, theirs would be abnormally high, for instance, giving the sensation that their body is still on high alert.

As well as insomnia, fatal insomnia also leads to sweating, impotence, tremors, difficulty walking, weight loss, dementia, hallucinations, and anxiety. Usually beginning in midlife, it progresses to death within seven months to three years.
The disease has four stages :

  1. On the first four months, the patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias.
  2. Hallucinations and panic attacks become noticeable, continuing for about five months.
  3. Complete inability to sleep is followed by rapid loss of weight, which lasts for about three months.
  4. Dementia, which the patient becomes unresponsive or mute over the course of six months. This is the final progression of the disease and the patient will subsequently die.

For some reason it is only at middle age that the prions begin to proliferate wildly, collecting in pockets that poison the neurons. But in 2014, a 16-year-old boy became the youngest person to die of the disease.

Infossible_Fatal-Insomnia-3In order to cure the disease, Italian researchers announced a clinical trial to see if a commonly prescribed antibiotic could prevent, or slow the formation of the prions in the brain. Doxycycline, which is normally prescribed to prevent malaria had previously shown some promise in experiments. The drug seemed to stop the prions sticking together in clumps and allowing them to be broken up by the brain’s natural enzymes. Gianluigi Forloni, the project leader said at the Mario Negri Institute for Pharmacological Research in Milan :

“It might delay or completely disrupt the development of the disease,”

If the drug really does work, it would be the end of a living nightmare.