Horrific genetic mutation starts as insomnia and ends in death


We’ve all had nights where we struggle to fall asleep, but imagine being trapped in a cycle of insomnia that gets progressively worse until you cannot get a single second of shuteye – and then, you die.

That is exactly what happened to Silvano, an Italian man described as having firecracker red hair and an impeccable dress sense. In 1984, Silvano was holidaying aboard a cruise ship when he noticed a strange assortment of symptoms, starting with a severe case of the sweats and pupils that had shriveled to the size of pinpricks. The illness worsened. He couldn’t sleep, he developed tremors, and he was dead within months.

This is fatal familial insomnia (FFI) – an extremely rare and extremely harrowing condition that is, in almost all cases, passed down the generations by a faulty gene. There have been just 24 reported cases.

Related article:  Getting to the roots of insomnia and what you can do about it

In Silvano’s story, the gene mutation could be traced back to a doctor living in late-18th century Venice. The doctor’s nephew, an Italian aristocrat called Giuseppe, also fell ill. Then, his sons, Angelo and Vincenzo, and so on down the bloodline until it reached Silvano in the 1980s.

There are at least 28 families around the world inflicted with the gene. Most, like Silvano’s, have a tragic history involving an unknown but deadly disease that strikes in middle age.

Read full, original post: This Terrifying Genetic Mutation Causes The Most Frightening Disorder We Have Ever Heard Of

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