Fatal Familial Insomnia
Can Insomnia Kill You?
You’re tired. Your thoughts are erratic, and scattered. All you’ve wanted to do for the past few months is sleep, but each night your dreams seem to move farther and farther away from you. You’ve tried to put on a good face, but it’s starting to wear on you. You’re pretty sure you just had your first panic attack, but you don’t think anyone in the café noticed.
You’ve been to the doctor, but that overpaid lab coat refused to give you anything that would actually help. The sleeping aids seem to be absolutely useless. You’re not sure how much longer you can live with this insomnia.
The reality is, that you may not have to live with this insomnia for much longer. In fact, it may kill you. Let’s talk about Fatal Familial Insomnia.
Let’s Be Real
Edgelord writing aside, statistically speaking, Fatal Familial Insomnia (FFI) isn’t something you’ll ever have to worry about. This horrifying form of insomnia is caused by a hereditary, genetic, prion disease. As far as we know, only 40 families are documented to have the genes responsible for the disease and as of 2016, only 24 sporadic cases have appeared. So unless you belong to one of those 40 family trees, it’s not likely that FFI is what’s keeping you awake at night.
For those who do have it, FFI is quite literally a death sentence. It’s been defined as universally fatal. After the disease develops, a person’s life expectancy drops to somewhere between 7–36 months. The disease has four stages that increase in severity, making those months, well, a living nightmare.
The Breakdown
Stage one of the disease presents as an onset of insomnia, which worsens over the first few months. The insomnia, likely with the help of the mutated prions, causes the patient to experience psychiatric symptoms such as phobias, paranoia, and panic attacks. Unless a patient has had some genetic testing done, they aren’t likely to suspect they are dealing with anything more serious than a “normal” bout of insomnia.
The second stage is signified by a worsening mental state, more severe insomnia, and hallucinations. Still, the presentation of FFI isn’t very different from normal, albeit severe, insomnia. Stage three starts when the patient loses the ability to sleep entirely. Stage four begins when the patient’s mental ability declines to the point that symptoms of dementia begin. The patient will begin to lose their ability to speak or move, before finally slipping into a coma from which they will never wake.
Besides the prions, what are some differences between this form of insomnia and others? First, we need to talk about the types of sleep.
The Differences
A healthy human will experience 2 types of sleep during the night. REM (Rapid eye movement sleep) and NREM (Non-Rapid Eye Movement sleep). A person will cycle through these two types throughout the night, with a majority of that sleep being NREM. NREM itself is made up of 3 separate stages. Both forms of sleep are beneficial to the body, but REM is known for being the period when dreams are most likely to occur. One very important part of REM is atonia. Atonia refers to the lack of muscle tone when one is sleeping. You’re effectively paralyzed, likely to keep you from acting out your dreams. This is important!
So what happens when a patient is deprived of sleep, whether due to insomnia, or a busy schedule? As soon as the obstacle to the patient’s sleep is removed, they receive a “ REM Rebound” effect. They quickly go into whatever REM sleep and they stay in there for longer. This is why people who aren’t sleeping for very long may dream quite often when they nap. They’re typically deprived of REM sleep, so whenever they do sleep, they go into REM quickly and spend quite a bit of time there.
This isn’t seen in FFI. In FFI, patients typically start to lose out on the third stage of NREM (N3). When they can sleep, they don’t get any N3 rebound. REM sleep doesn’t seem to rebound either, instead, it’s replaced by something resembling REM but without atonia. True REM without atonia is related to another illness, REM behavior disorder, which can be one of the first signs of Parkinson’s.
This difference is important because these missing sleep stages and odd transitions can be seen in a sleep study, which can help medical professionals distinguish between this rare disease and the more common forms of insomnia.
Another difference is that victims of FFI don’t see much benefit from typical sedatives. For normal cases of insomnia, though improving sleep hygiene and habits may be a more permanent fix, it’s not uncommon for patients to benefit from sleeping pills. The fact that most sleeping aids don’t do much against FFI just attests to the damage the prions cause the brain.
These differences, coupled with other symptoms from the earlier stages of the illness may signal that molecular genetic testing is needed.
The Sad Finale
FFI is a dreadful disease for which we have no cure. Palliative care is minimal, making the months before death tortuous for those who develop the illness. Its very existence can cause fear and paranoia in people with other forms of insomnia.
However, all prion diseases are terrifying, and FFI is no different. At times people will answer questions like, “Can a lack of sleep kill?” “What’s the longest a person has ever gone without sleeping?” by pointing to people who have FFI. In my opinion, as fascinating, and horrifying, as the idea of what zero sleep does to the human body is, I don’t believe FFI is a good example of that.
Though the symptoms that come as the disease progresses line up very well with symptoms from normal sleep deprivation, there are some key differences that, in my opinion, muddy the waters too much. The pseudo-REM that FFI victims get may serve as *some* form of sleep, and the havoc that the mutated prions themselves may be wreaking confounds things too much. Because of this, I don’t think we can look towards victims of FFI to determine how long a person can survive if they truly don’t sleep at all.
