Fatal familial insomnia: a genetic death sentence

There are genetic diseases and then there is fatal familial insomnia. It’s an excruciating death sentence with no cure and no treatments. Doctors can’t even temporarily relieve the suffering caused by months without sleep. For the unlucky few on this earth who inherit fatal familial insomnia conscience reality is no different than dreams and nightmares.

Little is known about fatal familial insomnia. The research is limited to its rare occurrences. Only about 40 families in the world are known to carry the genetic mutation linked to the disorder. For those families, their curse is a dark secret, a time bomb set to detonate sometime mid-life.

Fatal familial insomnia is a prion disease, the same classification as mad cow disease. The genetic mutations cause abnormal proteins to build up in the brain, destroying nerve cells and leaving sponge-like holes.

It’s a progressive disease. At first the symptoms resemble insomnia. Then it causes profuse sweating, accelerated breathing and heart rate and fever. Soon the sleep cycle breaks down, and the boundaries blur between wakefulness, REM sleep, and short-wave sleep. Death occurs after eight to 72 months, either due to a secondary infection or coma.

The disease can be traced back to 18th century Venice to a wealthy and respected doctor, educated by the disciples of Galileo, known as Subject Zero. In his book ‘The Family That Couldn’t Sleep’, Author D.T. Max wrote the doctor found he could stay up all night playing cards or studying medicine. He started sweating more and more, his servants would bring him fresh shirts every day. Months later, he was dead.

His children shared the curse. For each of them, it started with the typical symptoms of insomnia: trouble getting to sleep, and waking up early. That never stopped. Then there were cognitive problems not unlike dementia. By the ninth month of not sleeping, they were dead.

For centuries, this mysterious pattern would repeat itself. Once a prosperous family, Subject Zero’s descendents fell on hard times, poorer and unable to marry because the community learned word of the strange deaths.

Some migrated to other parts of Italy and Europe. Others went to America.

Scientific researchers discovered fatal familial insomnia in the 1980’s, when a descendent of the family named Silvano checked into the sleep clinic at Italy’s Bologna University.

Silvano, once an energetic playboy in his early 50’s, who never had any problem sleeping, suddenly took on the appearance of a sickly old man. His motor skills were staggered and his brain function was unusual. Silvano was neither asleep nor awake.

National Geographic obtained video from the clinic:

Silvano offered his brain to researchers after he slipped into a coma and died. Most of what we know today about fatal familial insomnia is because of Silvano’s offer.

Learn more about fatal familial insomnia on sleepeducation.com.