Fatal Familial Insomnia: When Sleeplessness Kills
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CNN called it a “family curse,” and an ABC documentary referred to it as “a poisonous fruit that hangs on to the family tree.” They are both referring to Fatal Familial Insomnia, a genetic mutation that results in death caused by not being able to sleep.
The disease was officially named in 1986, but the medical field’s knowledge of it goes back over two centuries. The book The Family That Couldn’t Sleep by D.T Max describes a family in Venice, Italy, who suffered from the disease for generations. According to Max, “You’d have 14 kids in a generation. Six or seven of them would die from the disease”. The family kept this secret for generations until one member, Silvano, decided to end the suffering.
Silvano started showing symptoms at the age of 53. He was sweating, and his pupils were shrinking. He decided to go to the University of Bologna, where researchers observed and filmed his final months. It appeared as if any time Silvano would start to fall asleep, he would jerk awake. Despite taking sleeping pills, his brain would not allow him to sleep, and he died in 1984. After his death, the doctors at the University of Bologna shipped his brain matter to a pathologist in the United States named Dr. Pierluigi Gambetti. Upon examination Dr. Gambetti noticed that near the center of the brain, the tissue was sponge-like.
Fatal familial insomnia (FFI) is a very rare genetic brain disease and is unlike typical insomnia. As the name suggests, it results from the inability to fall asleep, leading to physical and mental decline and eventually death. It’s quite literally a one in a million disease, and its rarity can lead to misdiagnosis.
The Biology of FFI
The sponge-like texture found in Silvano’s brain was created from small holes in the thalamus. This appearance is reminiscent to other diseases caused by a protein called prion. Prion naturally occurs in our body, but can change shape and mutate. The mutations then spread as abnormal prions convert healthy prion into abnormal. Those abnormal prions then go off to and repeat the process, killing brain cells along the way. This creates holes, which in the case of FFI, occurs in the thalamus. The thalamus is critical for the sleep-wake cycle, and when it is damaged can lead to insomnia and death.
Sonia Vallabh is all too familiar with the disease. In 2010 the young woman was in her second year at Harvard Law School and planning her wedding. Sonia’s mother was described as vibrant and healthy, happy to be planning her daughter’s wedding. However, this soon came to a halt as Sonia quickly noticed her mother’s health declining.
It started with her eyesight, followed shortly after by other strange symptoms like jerking muscles and confusion. At one point, her mother didn’t recognize her own daughter, and spoke in tongues. Sonia said, “she was fitful and couldn’t really tell you if she’d been awake or asleep.”
Within months of her symptoms first appearing, Sonia’s mother was in the hospital on life support. She died before the end of the year at just 52 years old. It was soon after her mother’s death when Sonia learned this waking nightmare wasn’t over. Her father, a doctor, pulled her aside and revealed the results of her mother’s autopsy and that the disease that took her mother was genetic.
A single, dominant gene called PRPN mutates causing FFI, and there is a 50-50 chance of passing it down. Those who inherit the gene often don’t realize it until later in life, when they start showing symptoms. After Sonia’s father told her the disease was genetic, she got tested. She tested positive.
There is no cure for FFI. For those who know they have the gene, like Sonia, it can feel like a cruel waiting game. Sonia isn’t just waiting around, though. She quit her job, as did her husband, and they are now getting their Ph.D.’s in biology at Harvard Medical School. They are working against the clock, trying to find a cure before it takes her life.
Though it is even rarer, some individuals have developed fatal insomnia without the gene mutation. This is called sporadic fatal insomnia, and it remains a mystery as to why this occurs. Symptoms of both SFI and FFI are generally the same. They progress gradually, typically between the ages of 40 and 50; however, according to The National Organization for Rare Disorders can occur in the teenage years or after 70.
It starts like a classic, mild case of insomnia. The person may have trouble falling asleep each night or staying asleep. With time, this will continue to get worse until the person is not sleeping at all. Because they are not sleeping, it causes several other symptoms. The mental deterioration may present with dementia, cognitive issues, memory loss, or difficulty speaking. These symptoms will often start mild and worsen as the disease progresses.
Challenges with sight, like double vision or jerky eye movements, are also common, as are difficulty swallowing and muscle movements. This can cause Parkinson-like movements and muscle spasms. Additional symptoms include a rapid heart rate, high blood pressure, constipation, anxiety, and depression. These symptoms worsen until the person falls into a coma and eventually dies.
These symptoms are both a result of insomnia and help contribute to it. For example, typically, our blood pressure will drop before sleep, but a person with FFI has abnormally high blood pressure making their body think it is time to be on high alert.
Brain waves also become disarrayed. In normal sleep, brain waves and rhythms change, experiencing deeper slow-wave sleep. This is when conscious brain activity is calmed down, and maintenance and repair are done on our brain. With FFI, nothing slows down, so the brain can’t reach this level of restorative sleep.
Treating Fatal Familial Insomnia
Though there isn’t a cure, there are ways doctors can try to treat it. Treatments help manage the symptoms for a while but sadly are not a long-term option. Nevertheless, many researchers remain active in their pursuit for a cure and effective treatments.
A study in 2016 performed on animals found that immunotherapy could help. Right now, there is an ongoing human study providing those with FFI an antibiotic called doxycycline. The researchers believe that this antibiotic will prevent FFI from occurring in those who have the gene mutation.
Unlike other common sleep troubles, fatal familial insomnia can’t be treated with a hot cup of sleep tea or natural sleep aids. The damage to their thalamus makes treatment much more complex. Still, some with FFI are taking matters into their own hands. Joyce Schenkein, a psychologist in New York, told BBC of a man named Daniel. Daniel, who has FFI, refused to sit around and wait for it to take his life, so he bought a motorhome and started traveling the country.
As his symptoms worsened, he hired a driver and eventually a nurse to help him on the road. Daniel tried everything to get just 15 minutes of sleep, from fitness regimes to vitamins. It wasn’t until he bought a sensory deprivation tank that he got 4 5 hours of sleep. Although it didn’t cure FFI, Daniel’s efforts to get some sleep helped him extend his life. He lived a few years with the symptoms until he eventually passed away.
If you are thinking, “why don’t they just take sleeping pills?” you aren’t alone. Many have tried this, and doctors have prescribed medications like Lunesta and Ambien. Still, even if benefits are seen, they are only temporary and stop working as the disease progresses. Because of this, once a person starts to develop fatal familial insomnia symptoms, they live between seven months and three years.
With no cure or effective treatment options, it’s clear to see why this disease is considered a family curse. However, with ongoing research, hopefully, the narrative will change, and those who inherit the gene don’t need to live in fear.
Stress can contribute to insomnia, and it is common for people to experience episodes of insomnia at some point in their life. When this happens to a person with the gene, they fear the disease, worrying that it will continue to worsen until the end. This can worsen their insomnia, even when it is not related to FFI. It has been described by one man with FFI as “living in a constant state of limbo.”
This one in a million sleep disorder is rare, and if it ran in your family, you would likely already know. That said, if you are distressed by an inability to sleep and have tried a natural sleep aid and sleep tea with no success, you should speak to your doctor. A medical professional or sleep expert can help you determine the underlying cause of your insomnia and suggest various remedies so you can rest easy.