Fatal Familial Insomnia: When Not Sleeping Could Be Lethal

I can’t think of a better way to explain fatal familial insomnia than talking about Silvano’s story. He was on a cruise when he started to feel the symptoms. He was an elegant person and enjoy walking around, greeting friends in his fancy tuxedo. That night, however, he had to leave the ballroom early. Embarrassed and covered and sweat, he returned to his room. When he saw himself in the mirror, his pupils were small black dots, just like he had seen in his father and sisters.

Silvano knew the symptoms, after the sweating and glazed eyes would come the tremors, weakness, constipation, and worst of all a never ending insomnia that would put him in a deadly coma.

Doctor Pietro Cortelli from the sleep unit at the University of Bologna commented:

“He told me that if he stopped sleeping, he would be dead in eight or nine months.” Silvano was confident that what he said was true, because there was a case of this disorder in each generation of his family. “I asked him how he could be so sure. He recounted his family tree from the 18th century by memory.”, adds Cortelli.

Causes of Fatal Familial Insomnia: Symptoms and Causes

Unfortunately, doctors weren’t able to save Silvano and he died a few years later. He did, however, decide to donate his brain to science so that doctors could try to understand the disorder that plagued his family for generations.

Although it didn’t save Silvano, doctors discovered that the origin of this disease was due to a protein called prion, which is located in the brain. In Silvano’s family’s case, this protein suffered a mutation. When someone in his family who had this disease turned 50, these proteins multiplied and damaged neurons in the thalamus, which is in charge of subconscious responses to the environment, like controlling temperature or blood pressure. As a result, the body does not prepare itself for sleep.

Because of this, the person affected suffers from insomnia which gets progressively worse. When they try to sleep, they have hallucinations, breathing problems, and as a consequence, may suffer from memory and attention problems. Finally, the patient reaches a point where they fall into a coma and die. As it is such a rare disorder, it is difficult to treat and there is no cure. However, studying cases like Silvano’s is helpful for understanding what fatal familiar insomnia is.

Source: BBC Future