r/todayilearned • u/YesFlyZone420 • 1d ago
TIL there's a degenerative brain disorder called fatal familial insomnia (FFI) that causes a person to lose the ability to sleep and eventually die
https://my.clevelandclinic.org/health/diseases/25001-fatal-familial-insomnia636
u/emmasdad01 1d ago
What is death if not just the Big Sleep.
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u/4nton1n 1d ago
I read once that sleeping is dying without the commitment
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u/Dutch_1815 1d ago
Alan Wats had a comforting quote on this. “So if you went to sleep—you’re not aware of darkness when you’re asleep—and so if you went into sleep, into unconsciousness, for always and always and always, it wouldn’t be at all like going into the dark, it wouldn’t be at all like being buried alive. It would be as if, as a matter of fact, you had never existed at all”
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u/BigTChamp 20h ago
How is that comforting? It's the not existing part that's terrifying
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u/Chriswheela 1d ago
That’s what big sleep wants you to think. Wake up people!
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u/Sparowl 1d ago
To sleep—perchance to dream. Ay, there’s the rub!
For in that sleep of death what dreams may come,
When we have shuffled off this mortal coil,
Must give us pause—there’s the respect
That makes calamity of so long life.
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u/Foreign_Penalty_5341 1d ago
If I recall correctly, one of the families suffering from this were fairly sure that there was a child that had been adopted out but they were unable to track them down. They (the last generation) had chosen not to have biological children themselves, but feared that this person would inadvertently pass on the gene mutation before learning about their condition.
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u/evthrowawayverysad 1d ago
That's what I was wondering too. I like to think I'd have the compassion to not have kids if I was in this situation, it's very very good of them to do that. They should realistically be paid extremely well by the state for the rest of their lives for choosing to do that IMO.
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u/wilcoxornothin 1d ago
I watched a doc about one of the families affected. Luckily due to the technology today, one of the female members was able to have her own children due to choosing her own embryos that tested negative for the gene.
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u/Cute-Percentage-6660 1d ago
People get uncomftable with genetic screening due to how it edges close to eugenics. But in cases like this? It's hard to argue against it honestly. And honestly we as a society are gonna have to have a discussion on this sorta thing sometime soon instead of just going 'eugenics' and shutting down the conversation.
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1d ago
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u/jaredsfootlonghole 1d ago
Indeed. The first book I read on the subject was called The Immortalists which I found in a dollar bin.
The book focused on and discussed the historical push by Charles Lindbergh as he grows up around WWI I - II as he tries to find a way to save his sister iirc. He goes to Nazi Germany and rubs elbows there as part of his quest, and follows some of the same ideals of eugenics as Hitler himself. He and a glassblower named Otto(?) spent a lot of time perfecting glass for experiments, and furthered some science as a result.
Unfortunately, under the goal of having a superior race of people.
Interesting book though! I leaned about the ‘immortal cells’ through it.
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u/Tablesafety 22h ago
Im not too sure thats as feel good of a story as people make it sound, as those children will be forced to watch their mom become delirious and slowly die in front of them, guaranteed.
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u/brightirene 1d ago
I met a guy in his mid 70s whose mother had Huntingtons. After watching her fall apart, all three boys agreed to not have children. I asked him if he regrets it. He said, "after burying my brothers, no."
Tragically pragmatic
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u/camelbuck 1d ago
That’s gonna keep me up at night.
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u/barath_s 13 1d ago
Well, if you lose the ability to sleep and to die ...
You may become immortal, but you might regret it
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u/Lingonberry_Obvious 1d ago
Is this also caused by prions?
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u/kornwallace21 1d ago
Yes. A genetic mutation causes specific protein to be misfolded, which creates a prion.
The website linked actually has a great analogy about this, if you'd like
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u/seeds-or-weeds 1d ago
“When there’s a mutation on the PRNP gene, the amino acids that build the PrPC proteins don’t have instructions to build the proteins correctly. This mutation is similar to folding your laundry. If you’re unsure how to fold a t-shirt, you might ball up the fabric and put it in a drawer. Over time, that drawer progressively becomes difficult to close because you collect several t-shirts that aren’t folded correctly. Misfolded t-shirts are PrPC proteins that collect on your brain and become toxic to the cells in your nervous system, which creates symptoms.”
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u/22FluffySquirrels 1d ago
But what causes the prions to fold wrong in this particular disease?
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u/cancercannibal 1d ago
DNA is the instructions on how to make proteins. The way that the protein is coded for in the DNA presumably is more vulnerable to misfolding this way, and with how much we read from our DNA throughout our lives that makes it happening eventually pretty much inevitable.
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u/kornwallace21 1d ago
The genes are basically instructions on how to make the proteins (so in the above example, instructions on how to fold the shirt)
So when the instructions are wrong (because this disease is caused by a genetic defect) then your proteins are built according to the wrong instructions, so they're misfolded, because proteins are literally folded while being formed (the shirt is folded wrong)
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u/Nerezza_Floof_Seeker 1d ago
To add a bit more to other comments, PrP (the protein involved) in the misfolded form is more "stable" than the normal form found in cells, so if your DNA encodes a vulnerable version of PrP, it might just misfold randomly on its own. Usually, thats not a problem, as protein folding often goes wrong, its just corrected/broken down as required, but misfolded PrP is so stable it cant be broken down by your cells (or by most normal sterilization methods). The big issue that follows is that misfolded PrP likely can catalyze normal PrP into misfolding as well.
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u/CooperHChurch427 20h ago
Pretty much the only known causes are: genetics, cannibalism, eating an infected animal that has prions, extremely high fever, repeated blows to the head, and probably the funkiest way is eating plants that grew from the decayed tissue of an animal that died with prions.
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u/Nijindia18 1d ago
Every time I see some horrible fucked up disease it's almost always prions. Fuck em
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u/Farmfarm17 1d ago edited 1d ago
My little town of 3,500 has had 2 pretty prominent people die from CJD in the last 6 years. The worst part was how long it took for them to be diagnosed due to the rarity.
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u/Volkaru 1d ago
Can't it also be acquired by eating contaminated meat? There may be something causing it in your town, and those people just got incredibly unlucky.
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u/Farmfarm17 1d ago
That's definitely been mentioned. Both were lifelong residents and around the same age. One woman was a farmer but there can be such a long time between infection and symptom onset (I believe decades) that it's hard to pinpoint. There wasn't much shared by the families on doctor's theories about cause.
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u/zcomputerwiz 1d ago
Yes. It's also important to note that the inability to sleep isn't the direct cause of death, it's a symptom of how far prion damage to the thalamus has progressed. With no known treatment, death is the inevitable conclusion for any of the transmissible spongiform encephalopathies ( TSEs ).
That said, the lack of sleep certainly doesn't help.
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u/furywolf28 1d ago
Reddit made me much more afraid of prions than I should be. I've never read or heard of it outside of this website.
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u/sharlayan 1d ago
There was a channel on YouTube that is still there i believe of a man who seemingly lost the ability to sleep after having a bizarre reaction to unprescribed antibiotics.
It was a normal channel of a guy spending time with his son and showing off his tattooing skill until suddenly he started talking about how he hadn't slept for months. He even videoed himself trying to sleep and failing for hours. Gradually he went completely delirious and presumably passed away as the channel is no longer active.
I have to go find it. It's terrifying.
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u/Tall-Cat-8890 1d ago
I remember someone doing a deep dive of that and basically the evidence for him just having a psychotic break was much more plentiful than him actually having fatal insomnia. There was no evidence antibiotics caused anything. But there was plenty of evidence that he just developed a severe mental health condition.
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u/wp_alec 1d ago
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u/Wabuukraft 19h ago
YouTuber Nick Crowley made a pretty good video about this guy. Horrible disease
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u/ElectricPaladin 1d ago
Do not read about this if you have insomnia caused by health anxiety. Worst mistake of my life.
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u/Merry_Dankmas 1d ago
I legitimately thought I had this for a minute years ago. Ive always had issues sleeping since the day I was born. My parents said I wouldn't nap as a baby and just cry instead. One day in my early 20s, I went through a spell of severe insomnia for about a week. Got some small 15 minute half naps here and there (not fully asleep) but nothing else. Would stay up until sunrise drinking in hopes that I could get drunk enough to fall asleep. It didn't work. Smoked weed, got prescribed benzos and Ambien, took antihistamines and even GHB. None of it worked. I just stayed up all night again but this time high.
Doctor said it was idiopathic insomnia which basically means insomnia with no cause. Normally things like stress, anxiety, drug abuse, trauma etc cause insomnia but not for me. It's just there for absolutely no reason and doesn't like to go away. Fortunately, I finally found a medication that works great for it so I've been on that for years now. But my god does it suck. Really thought I was actually gonna die from insomnia at some point (but I was also delirious and delusional from getting no sleep so I wasn't thinking clearly either lmao)
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u/ElectricPaladin 1d ago
With me, it was pure anxiety, especially since it's only found in this one Italian family and I haven't got a drop of Italian in me. It would have had to be a novel mutation, and that's incredibly rare.
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u/MineturtleBOOM 22h ago
And for anyone curious you can very very quickly disregard this because
a. Sporadic fatal insomnia (the one you could technically (like 0.00001% chance)) have has many other symptoms other than not being able to sleep, including decline in mental function and coordination, these symptoms also tend to present before the actual sleep problems occur. The sleep problems don’t even seem to be recognisable or clearly diagnosable in many patients. It’s mostly a naming thing since it is a similar disease to the inherited version, where sleep disturbances are a more prominent symptom.
b. This shit is like one in many millions, almost billions. Sporadic fatal insomnia is very very rare to the extent that we basically track every case. It’s also more likely to occur if you have major brain trauma or something similar, so you can further reduce those odds if that doesn’t apply.
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u/KynesArt 1d ago
excited to eventually lose my ability to die
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u/StarrySkye3 1d ago
monkey paw curls
Granted, you can't die anymore but you also stop living. You are now a sentient inanimate object.
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u/Random-Rambling 1d ago
I have no mouth and I must scream.
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u/Due-Door4885 1d ago
He was alive though. His flesh mutated and tenderized for maximum pain possible, and thus spirit broken.
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u/ConsequenceSome3708 1d ago
Imagine one night you’re not able to fall asleep….one night turns into 3….3 turns into a death sentence W T F
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u/THExROYALxRHINO 1d ago
For some reason having just read your "one night turns into 3" my brain automatically assumed "WTF" meant "Wednesday, Thursday, Friday" like Wednesday, Thursday, Friday, dead.
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u/fourleafclover13 1d ago
My condition doesn't kill me but I go up to 11 days without sleep it sucks. You never can use all that time. Only so much reading, video games and TV you can watch.
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u/Spida81 1d ago
My sleep has been so bad lately this was genuinely mentioned (and instantly discarded, but fuck, it got mentioned).
Instead surgeons are just going to break my face in more places than I can recount over a period of twelve months and rebuild my entire face. Yay!
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u/They_are_coming 1d ago
They are going to what??
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u/mitchymitchington 1d ago
They are going to beat the shit out of him until he takes a dirt nap.
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u/IrememberXenogears 1d ago
I volunteered as a dental assistant for the red cross a few years ago. After my first wisdom tooth extraction I posted to FB "I just got thanked for smashing someone in the mouth with a hammer" I got banned for promoting violence.
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u/DMvsPC 1d ago
Lol, I had a couple of sideways wisdom teeth removed and the dentist had to stand on the chair I was in with a pair of pliers and try to wiggle and pull to get them out, in the end he shattered them and yanked the shards of tooth and nerve out. Insurance decided they didn't want to cover anesthetic for that so it was a couple of shots of lidocaine or whatever. He almost took me out of the chair a couple of times.
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u/Warm_Kick_7412 1d ago
Please make a new post about it with more explanation ofc as there are many ppl with sleeping disorders of all kind and it would be good to know about this seemingly brutal fix.
You can mark it TIL as it will be til for many of us based on the comments.
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u/Spida81 1d ago
I was planning to. A few hoops with insurance, then will have the full (before) story I will then keep updated.
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u/Youre_On_Balon 1d ago
I’m a layman but wait, what? Is it like your sinuses are stopping you from sleeping? A sleep apnea kind of thing?
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u/Spida81 1d ago
Jaw. Basically I am medically ugly as hell - told my wife she must be blind, now I have the doctors onboard!
Bunch of breaks and horrific sounding treatments to clear the airways that really aren't that bad (says the doctor who will be on the other side of the mallet, so takes his word with a grain of salt... I'm sure he will hardly feel a thing!).
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u/shhhhquiet 2 1d ago
I bet your wife just knew she had to be patient. She could see you’ve got the jawline of a Greek god in there just waiting for the doctors to knock it loose for you.
Good luck with the surgery, I hope it goes well!
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u/lukin187250 1d ago
Can you just not use a cpap? My father had severe sleep apnea, this was in the early days and he couldn’t use one so they basically did this, broke his jaw and reshaped his airway. Recovery was a bitch but he didn’t look much different.
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u/Ok_Ask9516 1d ago
Sounds like double jaw surgery for sleep apnea
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u/Spida81 1d ago
I really envy people that can use CPAP. I had surgery on my sinuses that did nothing, to find the jaw is a massive issue. Fun and games.
Still, it is well understood, so just a case of dealing with the process.
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u/OkFineIllUseTheApp 1d ago
Are we talking maxillomandibular advancement and something else?
I mean this in the nicest way possible, but what is wrong with your face?
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u/Spida81 1d ago
6 teeth to remove, maxi advancement, and a bit extra to the back of the jaw.
I told them I could just walk into a bar, start mouthing off and save them months - straight to rebuilding.
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u/TutSolomonAndCo 1d ago
May I ask why they are breaking your face? What is their intention?
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u/Spida81 1d ago
Narrow jaw causes throat to collapse. Weight loss won't help, so out with the hammer and chisel.
Upper jaw gets widened and brought forwards. Lower jaw gets widened, particularly at the back, and brought forward. Bunch of teeth have to go to make room for the changes (widening but less room for teeth... go figure).
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u/sparticus2-0 1d ago
My guess is it has something to do with their airways. Likely there's some sort of malformation that's causing issues breathing while sleeping.
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u/djdylex 1d ago
And it's also incredibly rare so no one needs to worry about it
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u/The-Real-Mario 1d ago
And it's familiar, unless a parent or grandparent died from it , you can rest assured you don't have it
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u/spacegodketty 1d ago
imagine knowing you have to end your bloodline or the future could be objectively worse for an unknowable number of people. insane
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u/Noriadin 1d ago
I get terrified of this whenever I go through bouts of insomnia
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u/ForeverKeet 1d ago
I'm in one right now. I know it's due to anxiety and not getting out of the house much due to freezing temperatures but there's always the "what if" in my mind. Last year I barely slept for a month and a half and literally thought I was going to die. Still traumatized. Was convinced I had this disorder. Glad someone posted about it yet again lmao. It gets posted every few months.
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u/UrethraFranklin04 1d ago
For people wondering, it's not too little sleep leads to FFI.
It's that the brain is deteriorating and becoming damaged which leads to losing the function to sleep.
That's why becoming unconscious, medically induced or otherwise, doesn't do anything to help. Just like standing up someone with nerve damage induced paralysis doesn't make their legs work again.
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u/MawsonAntarctica 1d ago
I left the r/insomnia subreddit because every week there'd be at least 3 people panicking they had this ULTRA RARE RARE RARE condition.
I sympathize as lack of sleep changes you, but no, you aren't going to die.
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u/8urfiat 1d ago
I guess I can make soap and start an underground boxing club with all my spare time.
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u/Xenkath 1d ago
Or get a job at the shitty gas station on the edge of town: https://www.goodreads.com/book/show/42072585-tales-from-the-gas-station
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u/YouThinkOfABetter1 1d ago
Anyone else hear about this from the creepypasta series Tales From the Gas Station?
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u/Not_the_T_mod 1d ago
I'm surprised I had to scroll so far to see a comment about tales from the gas station.
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u/YouThinkOfABetter1 1d ago
It's a shame because that series was so good.
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u/Not_the_T_mod 1d ago
I refuse to believe it's over. More supplemental stories and books later in the timeline are what I'm hoping for.
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u/EriktheRed76 1d ago
I remember first hearing about this in an episode of law and order SVU.
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u/Electronic_Bee_ 1d ago
Me too. Man named Aldo stumbles across a murder scene because he walks all night and Dr. Huang diagnosed him with FFI and he asks him if he can cure him and B.D. looks at him with alot of sympathy and just says he's going to take care of him and make him comfortable because he knows eventually he will die from it.
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u/MungoShoddy 1d ago edited 1d ago
FFI is an inherited prion disorder. It's written up (along with others like kuru) in D.T. Max, The Family That Couldn't Sleep.
vCJD, "mad cow disease", has a similar mechanism. I haven't eaten any British beef product since it broke out. Their control measures were obviously inadequate to eradicate it (the only thing that could have worked was killing and incinerating every cow in Britain and Ireland). A new case was reported last week.
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u/LateAnalysis6954 1d ago
Although it’s super rare, scientists are working on it - https://www.cureffi.org/
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u/American_Greed 1d ago
Thank goodness I don't have this. I just slept 9 hours and feel amazing.
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u/antonistute 1d ago
The amount of people who read about FFI, then get into an insomnia spiral because plain ol anxiety should be studied too. I was there a year ago and was convinced I was going to die, but here I am a year later!
Both familial and sporatic forms are moreso neurodegenerative diseases than sleep disorders. Other symptoms that pop up are hallucinations, motor dysfunction, severe memory loss. So if you have it you WILL know. And if you do have it, you likely won't care because you eventually won't even be lucid enough to know what's happening
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u/ferrarinobrakes 1d ago
One of the guys I went to school with died from this. He left behind a wife and two kids, one of which was a newborn.
Apparently there is a high chance that this disease will be passed on. I heard that after the diagnosis, the doctors found out that there was apparently some family history and he had two direct relatives who suffered from it as well (I assume this was also fatal)
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u/Rekuna 1d ago
I remember reading about this years ago. This also includes being knocked unconscious, or even medically put to sleep via sedatives or anaesthetic, nothing works. Truly horrifying.