Some people suffer from occasional insomnia, but for those with this disease, sleepless nights lead to death.
Judit Klein/Flickr
They’ve watched it take members of their family for generations, torturing elder relatives night after night. When it’s their turn, they lie awake in wait of eternal sleep, gripped by a disease for which there is no known cure.
Called fatal familial insomnia (FFI), the illness starts with sleeplessness and ends in death, usually within less than a year.
What Is Fatal Familial Insomnia?
Carried in a gene handed down through generations, the rare disease known as fatal familial insomnia has plagued families for hundreds of years, and researchers are working to learn more about this uncommon but deadly disorder in the hopes of finding a solution.
“The name sort of puts it all on the table. It’s a progressive, inherited condition, characterized by eventually total insomnia – leading within about nine months time to death,” said science writer D.T. Max in an interview with NPR.
Author of the book The Family That Couldn’t Sleep: A Medical Mystery, Max introduces readers to a man known only as Silvano, who fell victim to this mysterious affliction the same way many of his relatives had.
Taking Max through his family tree, Silvano traced the disease’s origins to a distant relative — a Venetian doctor in the late 18th century — and connected the dots to include his own father, before finally reaching himself.
Unlike his older relatives who chose to keep the family’s curse a secret, Silvano visited a sleep clinic at the University of Bologna at the insistence of his niece’s husband. Here, researchers located the cause of the disease: A misshapen protein found in the brain, the result of a genetic mutation.
This protein is known as a prion, making fatal familial insomnia a prion disease, a neurodegenerative disorder that affects various regions of the brain. This particular disorder primarily affects the thalamus, the part of the brain that helps control the body’s motor systems, which include the sleeping and waking cycles, and its progression is nothing short of maddening.
“I mean, I would always be reluctant to rank diseases in terms of horribleness, but I think a case certainly could be made that this disease in many ways (is probably the worst disease in the world),” Max stated, due to the fact that sufferers remain aware of their fate up until their deaths.
What Happens To Those With FFI?
Fatal familial insomnia usually begins with seemingly minor physical maladies, such as excessive sweating. Then the pupils shrink to the size of pin pricks, the result of the body losing its ability to regulate the autonomic system.
From there, the sleeplessness sets in. Starting with difficulty falling asleep, it progresses to involuntary movement of the muscles, usually causing patients to kick or twitch in their rare moments of rest.
Over time, the thalamus becomes damaged to the point that the brain becomes stuck in a state of permanent wakefulness, making sleep impossible.
This lack of sleep usually results in high blood pressure, sexual dysfunction, panic attacks, paranoia, hallucinations, and ataxia, or the inability to control the body’s movements. Eventually, the body loses weight and muscle mass before succumbing to death, all within the span of about one year.
Quinn Dombrowksi/Flickr
The Long Fight Ahead
Only formally identified as a disease in 1986, researchers and scientists still have a lot to learn about fatal familial insomnia. They have, however, identified the root cause: A genetic mutation of the PRNP gene, which works to encode the prion protein.
With 27 known families around the world found to be carriers of the gene, five of whom are located in the United States, the gains researchers have made have so far only led to even more questions.
For instance, while scientists recognize the disease as an inherited disorder, only some cases have come about due to genetic inheritance.
Other cases stem from a new mutation in the gene in those with no family history of FFI. At the same time, some with a family history of the disease don’t carry the gene at all.
Gerhard Gellinger/Pixabay
Still, researchers are pressing on in their quest to understand — and hopefully treat — the disease. Most recently, the husband and wife team of Eric Minikel and Sonia Vallabh have devoted their lives to learning more about the subject.
Not long after Vallabh witnessed her own mother fall victim to the swift torture of FFI, she too began experiencing sleepless nights, which prompted her to get screened immediately. “Once I knew I was at risk, there was no turning back from the knowledge,” she said in an interview with The Atlantic.
After learning that she carries the gene, both Vallabh and her husband began researching the condition.
Eventually, the pair quit their jobs to become lab technicians at the Massachusetts General Hospital’s Center for Human Genetic Research, before enrolling in doctoral programs at Harvard Medical School, where they both studied biomedical science. To date, 30-year-old Vallabh works against the clock, hoping to find an antidote to the deadly disease that typically strikes at around age 50.
In working with the Prion Alliance, Vallabh and Minikel have studied the effects of an experimental compound which may delay the onset of FFI and other prion diseases such as mad cow by inhibiting prion activity, a potentially huge advancement in treating and possibly preventing this disorder.
Until then, Vallabh and others living with fatal familial insomnia are hoping for a breakthrough before it’s too late.
After learning about fatal familial insomnia, read up on the mysterious sleeping sickness of Kazakhstan and check out astounding sleep facts. Then, for more bizarre afflictions, be sure to check out these unusual disorders.
