The Tragic Fate Of People Who Suddenly Stop Sleeping

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Ever had one of those nights where you toss and turn, turn the light on, get a cup of tea, listen to some calming music, check your phone, toss and turn again but still can’t get to sleep? 

Frustrating isn’t it? And all you can think about is just how tired you’re going to be tomorrow, and how annoying it is that you can’t sleep. Sadly for a number of families inflicted with “fatal familial insomnia” (FFI) disease, the tossing and turning of a sleepless night can be the start of a cruel illness that ends with their untimely death…

Affecting only 29 families worldwide, FFI is incredibly rare. But for one Italian family, it has caused inexplicable deaths since the late eighteenth century, with all family members reporting the same nightmare-ish symptoms. After reaching middle-age, they first experienced profuse sweating and tiny, shrunken pupils, then tremors, impotence and constipation followed by the terrifying complete insomnia or a “waking coma” before death.

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One family member reported becoming a “spy in her own home”, creeping into her mum’s room on a nightly basis, just to make sure that she was really asleep. For the families affected,  the disease is an ever-present curse with many not wanting to talk about it for fear of “tempting fate” and then illness setting in. As such, very little research had been done around the disease, until one family member, Silvano, decided to leave his brain to medical science in the hope doctors could help cure the mysterious illness.

Researchers found that our sleep patterns consist of periods of “rapid eye movement” and deeper “slow wave” sleep, controlled by our thalamus. During the “slow wave” our brains oscillate low-frequency electrical activity, which calms down our waking conscious and allows for important ‘maintenance’ work on our tired-out bodies.

thalamus

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But the thalamus of people with FFI is genetically diseased by a prion protein, causing sufferers erratic body functions e.g. the sweating and constipation and permanently switched on, completely unable to descend into sleep. Although they can rest, their minds endlessly play out day-to-day activities. One sufferer, Teresa, who had been a hairdresser before the disease struck, spent her nights endlessly mimicking the action of combing someones hair.

The research started at the time of Silvano’s death has led to the clinical trial of a new drug for the disease, based on the common antibiotic doxycycline, which can break up the brain’s natural enzymes and stop the prion protein. The results of one trial has seen patients twice as long – on average 13 months – but it is far from a cure.

Let’s hope that these unlucky families find a treatment soon.

H/T: BBC Future

 

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