A family were unfortunate enough to inherit an incurable sleeping disease that took the lives of dozens over multiple generations.
The family from Venice, Italy experienced multiple losses across generations with as many as ‘six or seven’ children from a generation of 14 reportedly passing away. And these lost loved ones all experienced the same symptoms before their passing.
But a member of the family’s appeal to researchers was able to help scientists ascertain what the ‘brutal’ disease was and name it.
The family affected by this incurable sleep disease
The family are considered the first known case of the disease and reportedly kept the disease a secret for generations, fearful of what it could be.
D.T. Max, author of the book The Family That Couldn’t Sleep, wrote, as quoted by CNN: “You’d have 14 kids in a generation. Six or seven of them would die from the disease.”
When members of the family began passing away, their causes of death were listed as ‘nervous exhaustion’ or a condition called encephalitis, which sees inflammation of the brain.
In 1984, yet another member of the family named Silvano became unwell, experiencing constricted pupils and excessive sweating, in fear of symptoms of constipation alongside insomnia for months on end which had plagued other family members, the BBC reports.
Determined to break whatever curse it felt like had befallen his family, he decided to go to the University of Bologna to seek answers.
Fatal familial insomnia
Silvano was recorded and studied by researchers in the final months of his life.
One of the researchers, Dr Pietro Cortelli, explained footage showed Silvano experiencing ‘exactly what you can feel if you get a sleep attack when you are driving’ where you ‘are falling asleep and then you wake up’ – and the man experienced this constantly, with sleeping pills not even being able to help him fall into an actual slumber.
Silvano allegedly told Dr Cortelli: “In few months, I’m going to die. This is one of the few (chances) you have to discover what is the cause of the curse of my family.”
In July 1984, Silvano passed away, the research – only able to be conducted by him going to the university for help – led to a breakthrough.
Researchers found a ‘sponge-like’ structure near the center of Silvano’s brain in his thalamus – ‘ known as a relay station of all incoming motor (movement) and sensory information – hearing, taste, sight and touch (but not smell) – from your body to your brain,’ Cleveland Clinic explains.
Silano’s thalamus was discovered as having lots of tiny holes caused by abnormal proteins which were killing brain cells which were crucial to the sleep-wake cycle leading to incurable and deadly insomnia.
In 1986, the disease was subsequently named – ‘fatal familial insomnia’ (FFI).
The condition is extremely rare and ‘affects an estimated 1 to 2 people out of every 1 million’.
Cleveland Clinic adds: “Fatal familial insomnia (FFI) is a rare genetic condition that affects your brain and central nervous system. It causes you to have trouble sleeping (insomnia), memory loss (dementia) and muscle twitching. FFI is degenerative, which means symptoms get more severe over time.
“[…] Since FFI is genetic, there are approximately 50 to 70 families worldwide who carry the mutation that causes the condition.”
University of California’s Dr Michael Geschwind notes: “We don’t know why that specific mutation […] causes that particular part of the brain to be affected. That’s a big mystery.”
The disease currently remains incurable however scientists are working hard and trials are taking place in a bid to tackle it.
Cleveland Clinic reassures: “Studies are ongoing to find treatment options to reduce the progression of symptoms and extend the life of people diagnosed with this condition.”
