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December 26, 2017
If you’ve ever suffered from even a single night’s bout with insomnia, you know all too well how difficult it can be. You feel tired only to be unable to fall asleep, tossing and turning, obsessively checking the clock to see if you still have time for at least a nap before morning — and then the fog of the next day’s exhaustion. It’s all pretty awful, and — thankfully! — most people don’t have to deal with it very often.
But for a tiny slice of the population, insomnia is a symptom of a far worse condition: fatal familial insomnia (FFI).
For starters, fatal familial insomnia is a deadly disease — hence the word “fatal” in its name. It’s a progressive, degenerative disease that affects the thalamus, which is the part of the brain that regulates your sleep cycle. Over time, this part of the brain weakens and even has been described as “spongy” as the disease literally eats holes into the brain tissue.
As the brain becomes damaged, insomnia is often the first symptom of the problem. Though a person with FFI carries the gene mutation since birth, symptoms don’t tend to show up until middle age. Chronic insomnia leaves patients unable to sleep, and even if they doze off, their brains can no longer fall into the restorative stages of sleep. Sleeping pills and medication don’t help.
Once the deadly insomnia sets in, patients typically live only for a year or so, succumbing to rapid dementia and a total lack of physical coordination. As the disease progresses, patients often can’t sleep at all. FFI has a zero percent survival rate.
If the idea of getting FFI keeps you up at night, it’s important to remember that it is an exceedingly rare illness. It has only been discovered in 28 families around the world so far, but it is a dominant gene: If you have it, you have a 50 percent chance of passing the disease on to your children. If you have a relative with FFI, genetic testing can reveal if you, too, carry the gene for the disease.
If you don’t have FFI in your family, you can’t “catch” the disease. It doesn’t grow or develop from a history of regular insomnia, either. So no matter how many sleepless nights you’ve experienced, you’re at no greater risk for FFI unless it runs in your family.
If FFI does run in your family, you can be tested. Not everyone chooses to do so, as living with that knowledge might be too difficult, but others may find it crucial information if they plan to have children someday.
If you’re having trouble sleeping, please remember that the odds of you being diagnosed with FFI are very, very low. If you’re worried about recurrent insomnia, see your doctor to explain your symptoms, and consider asking for a referral to a sleep specialist. As FFI patients have taught medical professionals, the consequences of being unable to access restorative sleep for prolonged periods of time are dire. To protect your health and find a solution to your insomnia, reach out and get help as soon as you can.