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The Worst Disease You Can Get: Fatal Familial Insomnia and the I-Function
Pierluigi Gambetti, one of the discoverers of the condition known as fatal familial insomnia (FFI), claims that it is "the worst disease you can get." (5) Given the vast number of diseases in the world, Gambetti's claim seems farfetched at first glance, maybe even selfish; who wouldn't want to take credit for discovering one of the worst diseases in the world? But a quick overview of the disease presents solid evidence in favor of the claim- and some interesting insights about the many tasks of the I-function.
FFI has been discovered in only 28 families worldwide; it is an autosomal dominant gene mutation, meaning that a parent with the disease has a fifty percent chance of passing it on to his or her child (2). That much is predictable. But every other aspect of the disease is wildly unpredictable, forcing family members to make difficult decisions. If parents have such a high chance of passing on the disease, one might ask, why don't they simply choose not to have children? The answer: FFI , unlike many other fatal genetic conditions, doesn't appear until the victim is middle-aged, and tests to see whether parents carry the FFI mutation only recently became available (1). Here the first questions of the I-function, and the first paradoxes of the disease, appear. If this disease occurred in childhood, natural selection would have long ago done away with it. Because it does not strike until middle age, however, parents who may be carriers must make difficult decisions about childbirth. Paradoxically, it is in the parents' best interest to have more children, in order to ensure that at least some live FFI free into old age. More children, however, also means more potential FFI cases- a tough paradox for the I-function to work through.
Next, the symptoms. FFI baffled investigators for years, because certain symptoms resemble encephalitis, end-stage alcoholism, and dementia, among other conditions (1). But the hallmark of FFI, which the aforementioned conditions don't necessarily show, is the complete inability to sleep. The brain wave patterns that appear on FFI patients' EEGs go up and down wildly, in a pattern completely unlike the normal sleep-wake cycle; they may still show patterns indicative of REM sleep at night, but they do not pass through the sleep stages that typically precede REM, and they can still move while in the REM stage (5). There are also unbelievable highs in pulse and blood pressure, excessive sweating and an eventual loss of coordination and other gross motor skills (including speech) before the victim finally falls into a coma-like state and dies (1). But, most horribly, the thinking portions of the I-function remain intact, even as the rest of the body deteriorates (4). Because FFI is invariably fatal, patients understand that they will die, can talk and write freely about their coordination deteriorates and understand their fate up until their death (5). Some diseases, like Alzheimer's disease, are tragic because their victims lose the ability to describe their decline; in these diseases, the I-function deteriorates along with the physical body. But FFI is tragic for precisely the opposite reason; it leaves the I-function intact, even when its victims are clearly in physical agony.
Even the agent that causes FFI defies conventions. It is a prion, a form of infectious protein. Humans naturally produce thousands of intricately folded proteins, and the vast majority of them are harmless. But if one protein happens to misfold in a harmful way, it can trigger a chain reaction, leading other proteins to produce similarly harmful forms; the immune system cannot counteract the chain, since it does not see the proteins as infectious agents (4). The exact mechanisms behind this process, and the reasons why it should be fatal, aren't well understood. The effects of prions on the brains of FFI victims, however, are well-documented. In most areas of the brain, FFI victims show remarkably little damage. The thalamus, however, is utterly destroyed, full of holes (3). Given this evidence, one might try to make the argument that the I-function cannot be located in the thalamus; after all, FFI victims remain completely able to think and comprehend the world, even as the prions destroy that part of the brain. However, the I-function isn't limited to one section of the brain, and it does not only control thinking and speech. Indeed the sleep-wake cycle, so damaged in FFI victims, is also regulated in part by the I-function; people simply tend to forget this fact, because sleep feels like such a natural part of our existence. Only in unusual cases, like the severe insomnia of FFI, do we remember the I-function's role in this cycle.
FFI, then, presents yet another example of why it's useless to try to pin down one precise area where the I-function lies. One can see from FFI victims that the parts of the I-function that have to do with language use and comprehension, with naming people and objects in the world, probably aren't located in the thalamus. But the thalamus must play some role in the sleep-wake cycle, judging from FFI victims' brain damage, and the I-function aids in sleep-wake cycles as well; one cannot give an exact location for a function that performs so many diverse tasks.
Web Sources:
1) Case Study: Fatal Familial Insomnia; Location: Venice, Italy; To Sleep No More
2) Dying for Sleep: Researchers Track the Cause of a Rare but Fatal form of Insomnia
3) Fatal Familial Insomnia
4) Biofundamentals: Protein Folding and Turnover
Non-Web Source:
1) The Family That Couldn't Sleep: A Medical Mystery, by D.T. Max. Random House Publications, New York, 2006.
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Comments
Fatal insomnia familal
I haven’t been diagnosed yet but I know I have this. My head feels brain damaged, I haven’t slept for weeks now. No appetite. I just stay in bed waiting to die. Where do people go? I can hardly shower and get dressed, my family think it’s just depression. I’ve never experienced this before and don’t want to die alone .
Update on your situation?
Hi Cathy,
Were you able to find any relief or receive a diagnosis? I'm suffering with something very similar and my doctors are not very helpful. I'm trying to advocate for myself and figure out what could be the cause. It's literally destroying my life. I get little to no sleep every night and honestly I can't tell if I ever really sleep because I can lay there for hours and periodically look at the clock to see time is passing but never seem to fall asleep. It's caused me to give up my job and I'm no longer able to care for my son as a single mom. I'm heartbroken and devastated but without sleep I can't function. I'm praying for a miracle
SFI
Hi, so for starters I don’t know what is happening to me, roughly two months ago I started having major exhaustion with dizziness, headaches, faint feeling, walking speech and memory problems gradually getting worse over the last month. And sleeping has been incredibly difficult to where I can’t fall asleep on my own and had slept a total of like 10 hours in the course of a week two weeks again which is when this really started getting bad but even when I slept it didn’t feel like I was sleeping like time would pass by when I looked at the clock but I couldn’t tell if I was awake or sleeping the whole time. And it is the same thing now 2 weeks later they’d prescribed me clonasapam and 50 mg trazadone which are helping me sleep for a few hours through the night but hits the same thing to where I can’t tell if I actually slept or not. I am having a lot of memory and confusion problems and am exhausted to the point where I feel like I’m losing my mind like my anxiety and paranoia are through the roof and worse each day even when I thought I’d finally gotten some rest. Could I be dealing with SFI? Or some other prion condition? I need some form of help because all my doctor listened to was that I’m on the verge of losing my shit and they said they’d refer me to a sleep study but sent a referral to phsyciatrics instead. And then the my docto said he’d never even heard of a sleep study.
Update on your situation?
Hi Quinn,
Were you able to find any relief or receive a diagnosis? I'm suffering with something very similar and my doctors are not very helpful. I'm trying to advocate for myself and figure out what could be the cause. It's literally destroying my life. I get little to no sleep every night and honestly I can't tell if I ever really sleep because I can lay there for hours and periodically look at the clock to see time is passing but never seem to fall asleep. It's caused me to give up my job and I'm no longer able to care for my son as a single mom. I'm heartbroken and devastated but without sleep I can't function. I'm praying for a miracle
Similar condition
Hi there,
Just stumbled on your post and I can say I’m going through something like what you describe. This is actually a flare up of symptoms I have had previously. This particular flare up has been going on for almost 4 months. In addition to the symptoms you mentioned I feel cognitively blunted, feel constantly confused and withdrawn. The last few days I have been sleeping much less while even using medication. Safe to say I’m very concerned hoping my condition fades like it has or I get tests to prove its existence and swift treatment.
If you or anyone on this chat would like to talk contact me at carrottvision@gmail.com
Regards Michael
I'm sorry you are suffering
Hello Quinn:.
First, I am so sorry for what you are going through. I will post again later...we are on a trip now and time is limited As you may have read a few years ago I had a similar problem. I had never know anyone go a full week with 0 sleep until it happened to me. I am now sleeping 7-9 hours a night and my health is much better. It is very difficult to find physicians that understand or sadly even try to understand Insomnia. Literally all they address is sleep apnea. I was given a sleep study that was grossly in accurate. It was like they were not sure what to do so they forced the diagnosis. Using a cpap for Insomnia is absolutely ridiculous! It only works when you sleep. Unfortunately your going to have to be your own advocate. Keep going to different doctors until you find one that listens. Meditation saved my life when I was having sleep problems. It helped me survive while I searched for help. Look into it. Also ask to have your Testosterone tested. But make sure they check " Free Testosterone " too. Many doctors skip this. Mine was crazy low but I had so symptoms. Yours may be fine but when mine was low it caused neurological problems memory, mood and sleep. But hang in there and keep bugging your doctors. If it gets too bad admit yourself. When I did and they watched me stay wide awake for 2 nights they realized I wasn't " Miss precieving " my sleep. I use Hydroxyzine . It's doesn't knock me out but it puts me in a place where with focus and meditation I sleep very well.. Good luck my friend!!! If there is anything you I can do to help leave a message here . I get it right away. You are not alone!
Andy
the most scaring website I've ever visited
I had a temporary (2 nights) insomnia - I'm out of it without any medication -, somehow I ended up here. I was reading a LOT about this shit. It's "funny" to see, that on youtube and on blogs like this more people claim they have SFI who has ever been diagnosed with that since the written medical history. I think NONE of you have SFI, but there is one thing what you are doing great. Scare the shit out of people like me!!!! You think you know better things than doctors, and everyone who tell you that you don't have SFI you call them ignorant and dumb.
You are likely correct
It is very unlikely that most of the commenters on this site have any form of prion-related insomnia. However, it is clear that they do have SOME form of chronic insomnia, which impairs cognition and can exacerbate anxiety in those already predisposed to it (and anxiety itself predisposes a person to insomnia). I suffer from OCD myself, so I absolutely understand being so obsessed with the idea that something is severely wrong with you that you begin to believe it; however, if you believe that you have SFI, it is highly likely that your sleep-deprived brain is lying to you.
Sporadic fatal insomnia
my name is Alan Smith I am 30 yrs old male. September 13th 2019 I woke up unable to urinate normally this went on about for a couple weeks saw urologist found nothing wrong I now urinate now very small amounts frequently during the day.. By September 19 I started having problems with bowl movements unable to pass stool bowl movements dry and undernourished. Like I'm not getting nutrients. I had mri done oct 5th no obstruction. I then noticed I had lost 5 pounds. Went from 263 to 259. I had hiv test done oct 20th came back negative All of a sudden I started having problems staying a sleep my weight continued to decline with muscle loss major loss of appetite. By oct 20th weight down to 250. I have taken ambien, musle relaxers, anti depressants they all did not keep me asleep as I toke in the past 6 months seem to make sleep worse and caused excessive dry eye and dry mouth. I have a burning sensation in my head and pressure throughout the day my eye lids are swollen painful . Very high heart rate has gotten up to 130 bpm at resting.Nov 5th had mri done of face brain found minor optic nerve swelling. Also developed dry eyes and saliva decreases eye schreiner test came back sjorgens. I then developed a body temperature change I feel cold all the time. Also I cant look at sun and have light sensitivity. I have been to the doctors several times kaiser Permanente they wont help me they keep saying anxiety it's not its. my sleep I'm not getting proper rem sleep this is causing all these affects to my body the thalmus.. My vision also has declined font is out of focus and my pupils are small pins. My weight dropped down to 234 from 263 pounds around December 15th 2019. I have gained some weight back slowly I'm about 243 now. Other symptoms I have some short term memory loss. I feel fatigue all the time my walking is slow very hard for me to pick objects up. Hard to focus typing I have been unable to work difficult engaging in conversation. I also sleep as if I am awake the whole time. I have vivid dreams and come out of the dreams and can remember the dreams no refresh sleep in over a year I can remember. I have recorded waking up at least 60 times in a night. I have lost musle and getting weaker.It seems this may have been something that progressed through years I noticed in my pics from last 12 yrs dark lines and bags under my eyes. I believe i have fatal insomnia or sporadic. To my knowledge there is no cure for that rare prion disease. My muscles are declining as the weeks goes by. I'm extremely scared I try to to explain to my dad he disregards me I have really no body else to turn to. See attached pics before after. If there is anything you could suggest would gladly appreciate.
I feel the same
Mine started with a covid scare to my over sensitive brain kept getting panic attacks and heart jilting me up at night and peeing every 2 minutes took trazadone and hydroxizine 2 times each didn’t put me to sleep just made me over tired the one day nothing no more sleepy feeling and can’t sleep at all it’s been 7 months online many neurologist just say it’s anxiety or depression it’s not something happened to my brain from all the stress now I’m numb feeling all day lost my happiness I was so happy last year let me know if you get an answer and a cure
I feel the same
I have been going through the same thing for me it was due to the covid scare my brain couldn’t take it I was getting panic attacks every day and peeing every two minutes at bed and thinking about my breathing too much and my heart jilting me up I took hydroxizine twice and trazadone twice they made me really sleepy but I couldn’t fall asleep then after 3 weeks nothing no sleepy feeling anymore and my brain feels heavy and numb no sleep for going on 7 months every neurologist on JustAnswer I ask say anxiety and depression but I know there’s something else going wrong I don’t know what to do
Sporadic Fatal Insomnia - I feel the same way
Hi Alan. I'm so sorry you're going through this, it's so awful. I'm 33, male. I have been having dementia symptoms since September of 2019 that I think are tied to fatal insomnia. The first health issue I had was in September 2019 I started sweating profusely at night and lost all my emotions and was very fatigued. I lost 10-15 pounds very quickly but then got very constipated and eventually gained it back. After a few days my body started to feel normalish again but my brain was completely trashed. I've tested negative for HIV and hepatisis C and the blood work that's been done has been within normal range, apparently. When I tell doctors I can't sleep they tell me all this crap about sleep hygiene and preparing properly for a good night's rest. But in November of 2020 I had 5 nights in a row where I couldn't sleep at all. Every time I was about to fall asleep, my heart rate would spike and jolt me awake. My right leg also would feel weird and numb every so often like I had to move it. I started taking over the counter meds and klonezepam and was able to start getting some sleep again, and eventually ambien, and eventually even cannabis, but now nothing I have seems to work. I can barely function or make sense of the world anymore. I am about to be living on my own (roommate is moving out) and probably will lose my job soon. Doctors have been useless. Even if it isn't FI, it is NOT normal insomnia, something is very very wrong. I have anxiety and depression, but they are NOT causing sleep issues, they are the source of it. I was in treatment for depression/anxiety for 4 months and while I did eventually show a little improvement I have no idea why, and now the downward trajectory seems inevitable. I have random bouts of anxiety and panic for no reason. My resting heart rate has generally been getting faster and faster but my pulse feels MUCH weaker than it did in the summer of 2019. and I am constipated most of the time and take multiple over the counter drugs to help me clear things out. I used to be very healthy, in July of 2019 I was probably the healthiest I'd been in a long time and was feeling finally happy as an adult and everything has gone downhill over the past year. I don't even know how I'm still alive with how little sleep I get, and thought I'd be dead much sooner. I am now getting 0-3 hours of sleep a night and don't really feel tired (I feel slightly groggy sometimes). I am out of hope and basically just sit around waiting to die (when I'm not attempting to work) but my body keeps going. If I knew there was something I could do to feel better I'd do it a million times over but I can barely think or remember ANYTHING and cannot learn new information. Pretty soon I don't think I'll be able to drive and then I don't know what I'm going to do.
You are probably the first
You are probably the first person I have found, who mirrors around 80 percent of my symptoms. I am so sorry for what you are going through. When I feel a bit better, I will comment detailing my symptoms! Hang in there, this is an all around terrible disorder.
i know how you feel
i have been suffering from this rare insomnia since early may 2014 iv been threw hell im still going threw hell iv been hospitalised twice due mental breakdown because complete total insomnia for months at a time where i couldn't walk or talk properly my speech is also messed up most the the time my memory is terrible now short term and long term i have lost track of time cant tell the difference between day and night my reality feels strange i feel like im in a kind of bubble like world i have gone threw everything you have mentioned severe sweating extreme anxiety and panic attacks due to zero sleep i got so bad i started to dream and snore awake sometimes i would close my eyes and just lie there and start talking to people like im dreaming and trying to grab things but im actually awake and fully aware im doing it im sure it called dream enactment this has destroyed my whole life i dont even know how im still alive well i do i found only one option to help me slightly its not great solution but its been helping me now for years and thats called benzodiazpines/valium its the only drug i have found thats been able to put my brain into a coma but at high dosage im taking like 80mg per night and that still only gives me 2 hours of not sleep but superficial sleep/coma its not completely refreshing but its slightly giving me some refreshment i have been threw maybe 9 doctors they all turn me away and say i have anxiety this that the next thing no i dont a normal person with a proper working sleep function the body would eventually crash me without the valium my body i just jammed awake no micro naps nothing just complete total insomnia until im completely psychotic its horrible theres no words to describe the mental torture this has put me threw over the years since this happened to me your not alone mate i dont even feel physical tiredness its like been on amphetamines 24/7 i would be dead if i didnt have these valium to put my self into a comatose state join my facebook group its called fatal insomnia
https://www.facebook.com/groups/1128255413903848/
look forward to hearing from you
Sfi
Hi I have many of the same symptoms, can’t sleep at all, no appetite, no period. I was wondering if anyone here has been on and off any type of SSRI?
I’m wondering if going on and off of it has somehow changed the brain chemistry...
SFI
I am terrified I fatal Insomnia. I cannot sleep at all without sleeping pills. I have a hard time falling and staying asleep. The only sleeping pill that works is Ambien and I only sleep at the most 4 hrs at the most with that. Now I only sleep 1 hour on Ambien. Trazodone, Doxepin, and Temazepam, and Seroquel did not work. This has been going on for almost 3 months now. My sleep has gotten worse since I took sleeping pills. I always have vivid dreams when I sleep. I now have myoclonus when I sleep or don't sleep. Muscle twitching/spasms and all over even my eyelids.
I am terrified I have this disease. Some of the case studies I have read they had all normal blood test besides a elevated Thyroglobulin. When I did my labs I too had all normal bedsides an elevated Thyroglobulin. There was 3 cases I could find.
I now have high anxiety and depression now because of this. I am no longer interested in thing I used to enjoy now. Also now have high Blood Pressure. I no longer sleep now been sleepless for 4 days.
hei
Dear Melissa. It must be awful to sleep that little. Have you tried zyprexa or truxal for sleep. I also would recommend trying gabapentine as it is suppose to enhance deep sleep. I am sleeping only 2-3 h without meds. But im currently on zyprexa 10 mg. I dont get enough sleep myself for 2,5 years. I am gonna ask for gabapentine if my dr approves. I understand you must be afraid. I read people sleeping longer on gabapentine. Just a tip. Hope you get your sleep back. Be firm with your dr and try to get a sleep study. best of wishes to you. sending love and hugs. You can contact me on fb if you would like to chat/support: Lisa Olsen Jacobsen.
Insomnia
I haven't been able to sleep for 3 days. I'm kinda nervous.
Ffi
I’m 27 years old.If I wouldn’t known what I was going through now I would’ve never complained 1 year ago about only sleeping 6 hours. In September of 2018 I started having a decline in sleeping. It went from 4 hours to now nothing! And I’m wide awake and am experiencing back of head pain and electric shocking pain in my head. I too had a sleep study on October and they said I slept 6 1/2 hours and know I wasn’t cause I was up tossing and turning and fixing pillows. I’m so scared I’m gonna die from this and be in a catatonic state where I can’t speak to anyone. This is a real life horror movie. No one believes me. The sleep study doctor basically just said you don’t have sleep apnea and kicked me out. I’ve tried numerous benzos and sedatives and nothing is wrorkkmg including anti seizure med for the neurological pain. It helped a little with the pain but if anything made the sleep worse. No one believes me. I’ve developed a heart murmur and have PVC’s And PAC’s arrhythmias from a halter monitor. I got a cat scan done I went to the er because of this and they just told me I don’t have cancer or brain bleeding. I’m trying not to give up but I know this is what I have. I cut out caffeine make the room dark bought ear plugs don’t watch tv before bed and nothing is working and my family thinks I’m crazy. How am I still up and wide awake after a week! They say I’m depressed but I’m only anxious and depressed because no one believes me and keep telling me I’m fine. My doctor told me it’s lnly a matter of time until my organs fail. I’ve never been more scared in my life!
This is a reply to my own
This is a reply to my own comment. I hope everyone who has been on here before has recovered. I remember how scary this was with 2 consecutive weeks of no sleep and then days and days no sleep. I had tried all the medications Xanax, Valium, all the depression and anxiety ones. Matter of fact the Valium made me more awake! The gabapentin made things worse. During this time when I couldn’t take it anymore I surrendered my life to Jesus and I slowly started to get better! I remember no one believing me about not sleeping and how frustrating it all was you can even see from my previous post. I will also never forget my friend while at church turning to me and randomly asking me hey how’s your sleep been and me without notice at first saying it’s been good and she says you see ever since you’ve gotten closer to Jesus you’ve been healed. If I’d say anything or anyone else cured me I’d be a liar. I really do pray each one of you all gets healed. And am gracious yet for everyone’s support back then!
-Anna
Matthew 11:28 Come unto me,
Matthew 11:28
Come unto me, all ye that labour and are heavy laden, and I will give you rest.
Message for anna
Dear Anna
I am 53 and have been suffering for over 2 years with the same thing. No sleep at all but sleep study said I was asleep 7 1/5 hour but I was awake the whole time x will tell you more later as my husband is watching me. I am going out of my mind x johanne
Ffi
Anna :
I am so sorry for the pain you are in. I know exactly how you feel. As you have seen in my posts about a year ago I was going through the same thing. I am now sleeping fairly well. I still dont know what was going on or what this is. I self admitted to a mental health facility. While there they witnessed me up awake and not sleeping at all. I was given medication called Vistaril and inspite all the benzodiazepines and other meds not working this did and I slept for a full 7 hours straight. After that I got mixed results from it. But now I take nothing for sleep except occasionally benadryl and although its broken up I sleep 5- 7 hours a night. My memory has gotten better also. I still feel that meditation helped me most of all . I have gotten away from the habit some now since I sleep I dont need it as much . I sincerely hope things get better for you . I know first hand the Hell your going through. Also if possible try a psychologist to help , some get special training to aid with these non apnea type problems. If you have any questions that you think I can help with let me know
Andy
Insomnia since Jan 2018
So I moved to the middle east from Nigeria. Have always been a good sleeper while in Nigeria. I didnt have formal work from 2014 to 2017 so i could sleep for up to 10hrs a day. I sleep 2 hrs in the afternoon and up to 8 or 9hrs at night. Cool right? So I moved to middle east where i work 12 hrs a day almost everyday. Initially i was doing ok until my first shift change. That was when i got my 1st insomnia for a week in september 2017. It cleared...but came back with force in january 2018...that was when i came across this forum and concluded i had ffi. And nobody can convince me otherwise.
However i went back to nigeria in febuary and sleep came back. But my 2018 was marred by many weeks of zero sleep. But i now believe i dont have ffi...just severe insomnia.
I havent slept well in 2 weeks now...but at least i get 4hrs of sleep with zopiclone. I want to kick the drug this year...free my mind of life worries and get my sleep back...so help me God
Just an Illusion
It appears that a lot of you have this problem.
https://en.wikipedia.org/wiki/Sleep_state_misperception
You are wrong . I am now
You are wrong . I am now sleeping 4-5 hours per night. My memory during this was terrible. I have a licensed psychologist and neurologist do a total cognitive assessment on me and it showed severe cognitive and memory deficits. Since I have been able to finally get help....no doubt from someone that is not a moron like you.... all of my cognitive and memory deficits have subsided. If you dont intend to positively contribute stay the hell off the boards ....find yourself a chatroom to troll , like other jackasses do.
Andy
I am contributing positively.
I am contributing positively. Many people believe (atleast 1 case on this forum, where she says that she doesn't believe the sleep studies she's getting) that they haven't slept in several months. This belief causes a negative placebo effect with big health consequences. By showing that a condition like this exists, now many might see that there's nothing seriously wrong with them and start living a normal life.
Hypothalamus
I came across this blog while looking up disorders relating to not being able to sleep.
I have had narcolepsy for decades. But it's gotten worse over the past year to the point where it is making life very tough.
Narcolepsy is essentially when something your immune system attacks the cells in the hypothalamus which affects its ability to produce/secrete hypocretin which is important for maintaining wakefulness and alertness.
So I don't have FFI, but I was struck by the similar nature of my symptoms to the symptoms described by the posters here as the people who have posted comments here, particularly as I have a "sleepiness" or lack of wakefulness disorder.
The common theme seems to be consistent with damage to or impairment of the hypothalamus. You can google hypothalamus function and you will see most of the symptoms can be attributed to problems in this small part of the brain.
In short the hyothalamus is the control centre for a lot of bodily functions [eg sleep/wake cycle temperature regulation], that operate automatically, through a complex system of nerves, and brain chemicals, and if something goes wrong with it, regardless of the cause, it seems to trigger a similar range of symptoms. And as there isn't any fix for a damaged hypothalamus its a matter of trying find a way to manage the symptoms so as to be able to function as normally as possible.
My symptoms apart the usual narcolepsy ones, now include temperature sensing, balance among others, but these are trivial compared to the issue of lack of alertness while awake.
The sleep wake cycle is very complex, and not very well understood, particularly the area of cortical arousal. This is the process where the brain goes from fast asleep to fully alert in around 10 seconds upon waking [for normal people at least].
What I have noticed is that if I am able to stay awake, after about 16 hours I start to become more alert, rather than more tired as you would expect. And will often end up not sleeping at all for 36-48 hours, and its not really a problem. I'm actually able to function better with no sleep rather than 2+ hours sleep, hence my interest in this topic. I am aware that 48 hours is not a long period to go without sleep.
The other thing that I find interesting is that if I have a micro-nap [<5mins], I will usually feel alert upon awakening. I have had this pattern following micro-naps for decades. But I'm only one person and its hard to draw conclusions form ones own personal experiences.
There's not a lot of scientific literature about this topic and not getting regular sleep is generally viewed as a bad thing. There are a few blogs about polyphasic sleep but these cater for people who don't have sleep disorders.
I actually find it encouraging that people are able to survive for long periods with no or little sleep, I understand that it is pretty horrible place to be but I hate to think that people give up hope.
I'm interested if anyone has any experience with a) micro-naps b) polyphasic sleep, and c) if people are able to have a decent amount of sleep how they feel upon waking. I would like to see if there are any patterns or common experiences.
There is a lot of stuff going on in the brain which I am not going to attempt to explain at the moment. But if you do have any experiences either positive or negative it would be helpful and if there is a pattern it may fit in to some sort of scientific context.
I originally trained as a biochemist and did several years of biomedical research so am more than happy to have an evidence based scientific discussion on this topic.
Thanks in advance.
FAtal Insomnia missdiagnosed with depression
I am a Fatal Insomnia Patient from Croatia missdiagnosed with depression!
I don‘t have much time left and am currently in a neurological ward at a hospital in Zagreb. The doctors don‘t really believe my symptoms and have never heard of this horror disease so even my family thinks that I am crazy.
I am a high school teacher from Osijek, Croatia.
My symptoms started just 3 days after my 30th birthday.I am completly sleepless from October 24th 2017 ,loosing my memory and weight rapidly, hair, period, feelings, words,...I will forget that I wrote in a few secs, walking and talking becomes harder and harder.
On November 23rd I tried to take my life since not a single sleeping drug helped and not a single doctor took me serious.
Over 8 months later I am still not sleeping and family and friends do not believe me when I say that I cannot sleep.
I am facing a terrible death in an mental institution since no one ever heard of FFI and there is no doctor even considering sending me through a PET scan after trying to kill myself.
I did a polysomnography test 3 months ago which shows that I am right! But since no doctor knows about FFI they diagnosed me with the restless legs syndrome!
Just a depression, which will pass they say and it is impossible that you do not sleep at all for such s long time!
I just want to die in dignity!
I know that my end is near because I can’t breath through my mouth any longer by reflex...
I never heard of cases in our family, so I think it‘s the even rarer sporadic version.
In the attachment is my sleep study result after 1 night of polysomnogrsphy and photos of me before the ilness and now.
I found one boy who got the diagnose from the Mayo Clinic in the US and after seeing my sleep study and the huge list of symptoms he said it‘s 100% fatal insomnia.
It all started with constant diharrea after every meal 4 months before I stopped sleeping.
I have no short term memory, answer slowly with only yes or no, can‘t concentrate, listen to music, read or watch TV,...
I m catatonic for the last 4 months and only in bed.
I simply feel that my whole body is shutting down it‘s autonomic functions amd that I am going to die very soon.
I need somebody to explain to my family what is happening and I need a special hospital wich will take care of me and my brain after I die.
For research and maybe there is even a chance that it is familial since there are many suicides from my father‘s side of the family some 40-50 years ago. My father‘s father, his sister and the young son of this sister.
Maybe they had this and could not take it any more. Like me!
My grandmother is the only person alive who knew them but she somehow never wants to talk about them!
I am passing stage 2 but still can hear everything around me and I wake up very soon (here 21 times)
During day as well not a single minute of sleep. I lost my feelings and cannot even scream or cry and talk with a calm voice only about my symptoms. That‘s why nobody believes me- I am in so much pain but talk like it‘s nothing!
It took away my whole personality and is by far the worst disease one can get and nobody is by your side because nooone ever heard of it.
I am so alone and scared as hell because my end is after over 8 months really near!
sfi
I am suffering from progressive worsening insomnia the last 2 years. My sleep has grown lighter and shorter. I now sleep only shallow light a few hours but its not real sleep, when I try to sleep more my brain refuses and im utterly exhausted and gets hyperarousal and jolts. I only get a quota of sleep per 24-48 hours and it keeps decreasing. I know where this is going. I am going to loose my sleep completely and be permanent awake. It has been a long ride this insomnia and has crushed my life, i have lost friends, I cant do anything anymore. and i havent been able to shop food. And my parents say they cant care for me and thinks i need mental help, when I have tried everything. I was submitted to a mental facility for 4 months this year, they tried to treat me but I was too exhausted to participate because I lost my sleep. I had an infection in may 2017 and got treated with a antibiotic called doxycycline. From feb to may 2017 I gradually lost my sleep, but after the cure of doxycycline my insomnia stopped and stayed the same. I have read that this medication can prevent and/or slow down the progression of SFI. i think it did in my case. It was harder to sleep but it was manageable from may 2017 to january
2018. but my sleep quality declined a little bit throughout in that time. From feb 2018 I started to sleep less. From 7 hours to 6 hours at first with bad quality sleep every other night. In may I slept 4-5 hours good quality sleep every other night. Some nights I only had vivid dreams from the moment i went to bed till wake up. From may my sleep has declined even more and now in septemper I can only sleep 2-3 hours really light sleep. I get no deep sleep because I know what deep sleep feels like because I had a sleep study last year when I slept more. 1-3 nights a week I dont sleep at all. And it keeps declining. It has been absolute torture and exhausting. I experience that no one believes me and not even my sleep specialist believes me and gives me a new sleep study. she is just hung up in the sleep study from last year when my sleep was "better" but now it is a whole nother story, she refuses to do anything. And im left at home in total agony and now there is more to come. I can see decline and changes in my sleep every 2 weeks now so this is progressing really quick now to wakefullness mode. I know I have sfi or morvan syndrome. This insomnia is either fatal insomnia, morvan syndrome or limbic encephalities. I know almost everything about these conditons now because I had to look up my symptoms because no one helps me with diagnosis. And I know sfi cant be diagnosed until brain biopsy. Of course if u have total insomnia and become mute and catatonic they will probably assume your diagnosis. or in some cases by fdg-pet that shows thalamic hypometabolism and a sleep study. and prion related csf tests. But my PROBLEM is getting a new sleep study and performing these tests because my sleep specialist wont listen to me and refuses and sleep study where I live is only performed at the hospital. Im not well enough to travel and dont have money to take a sleep study private. and what would it benefit? it will show I sleep maybe 2-3 hours in stage 1 sleep and rem sleep. DO ANYONE KNOW IF SLEEP STUDY CAN SHOW REM SLEEP WITHOUT ATONIA? I have that. becaus when I was able to sleep normally I had a lot of sleep paralysis in rem sleep and my body was completely relaxed. Now if I wake from a dream I am stiff in my whole body.
I have a ton of symptoms, some old and some new in which has progressed in severity:
problems with speech
problems with ambulating because of exhaustion
short breath, get gasps while trying to talk and eat
my pulse is high all day
high blood pressure
diahrea
urinary constipation
my stomac makes weird noises throughout the day, especially after meals, its like my digestion is failing because I dont get deep sleep and loose it every month.
menopause
numb/loss of sensation and tingling feeling in my foot and legs
feeling like my body is exploding when I stand or walk, my pulse increases to max pulse just standing
apathy
cant feel emotions, and if i try to do I just cry
I cry alot but if i cry too much I get more exhausted
utterly exhausted all day and night, this is the worst symptom having no energy (I only lay on my sofa now)
i can still watch tv and listen to music but poor concentration
It looks like im shocked in my face, i dont look like my self, i look sick and my skin is yellow and not pale and white as I usually am
my pupils are weird, sometimes really round and small, sometimes differ in size
I am considering to end my life really soon, I dont want to see this disease through as I have been tortured with sleep loss over so long. Had I only lost my sleep right away, and not progressively I would have seen it through because I would think I get better. I know I cant get better from this if this is not morvan syndrome, which is even rarer than sfi. i am tortured every single day now. I twist and turn in sofa in total agony from lach of sleep. I need someone to talk to in same postion so that we can talk and be in company while sick like this.
Bad insomnia
I took antibiotics in same situation as you all of same symptoms can't sleep . Sleepless nights awful.
Hello Lisa: Are you doing
Hello Lisa:
Are you doing any better or is it still bad? After tons of different meds trials I'm sleeping 4-6 hours now. I really hope you have got some relief.
Andy
Good to hear you got some
Good to hear you got some relief. No still this bad, I feel actually worse this week. Utterly exhausted. I think its because my sleep is so light and with sfi it only grows lighter and the exhaustion keeps adding on. Im not gonna keep going for very long as this is torture every day. I dont think people can have sfi it unless they sleep less or none and have exhaustion that makes you only move to the bathroom. Its so sad. Dont know why I got this, I am only 27 years old and had all my life in front of me in the most beautiful country and amazing family :(
insomnia
my dear lisa
I feel for you so much as I am going through something very similar. I just cant sleep at all and nobody will believe me. I have seen specialists in london and had a sleep study which showed i was asleep for 6 1/4 hours. I was actually awake for the whole time as I haven't slept for just over 22 months. I too like you sit on my sofa all day, i got on the internet to try and find take my mind off of things. my husband is on the verge of leaving me because he just doesn't believe me and wants me to go out to work. He is getting really abuse with me. I love him dearly buy there is no way i can get him or anyone even my parents to believe me. I am in a permanent nervous state every second of the day and when he goes out i scream and hit my head against the walls in the house. i don't know what has caused this for me i really don't. I am so scared i have considered suicide but don't know how to go about it as it is really scary. you can talk to me as much as you like as I do understand what you are going through.
with kind regards
love johanne xx
contact me if in same position
I wrote the progressive worseining insomnia post. If someone out there is in same position please contact me on facebook: Lisa Olsen Jacobsen, I have no profile picture. If you Lilly read this feel free to contact me on fb or mail: lissi_fleur@hotmail.com :) I only want to talk with people with sfi or ffi who experience agony from loosing sleep or have total insomnia.
My heart goes out to everyone who suffers from sfi
Not being believed by the people you love and doctors, and also the horror loved ones feel: helpless. This is so painful for people. I really hope people going through this have support. Its like being prisoned by a murder you didnt commit. In future I hope for a cure or at least a place for sufferers to be while going through this. symptomrelief, love and best care. People with this needs love and understanding. And of course try everything before jumping to conclusions of sfi. Its so rare, but progressively worsening insomnia and total insomnia over months and years needs attention and taken seriously by doctors so that the person gets polysomnography tests, csf tests, fdg-pet (thalamic hypometabolism detection). And gets tested for differential diagnosis like Morvan syndrome and limbic encephalitis, which can be treated.
Ffi
I wish you the best .I am sorry you are also suffering so . I don't believe I have it . I finally got a sleep study and will be sending it to The University of Chicago neurology dept Dr Manstranni, and they said they will review it and do the genetic testing . At one point I was not sleeping at all but was never ever tired . Then through meditation and visualization techniques , and medicine I was able to sleep 1-2 hours a night. Now I am up to 3-5 hours...broken up but I'm still quite happy with it . If you feel my experience can be helpful please let me know and I will joint your Facebook
andy
Dear Andy
how are you getting on. did you get the results of your sleep study and the genetic testing. I was pleased to see that you are how sleeping 3-5 hours. Wishing you the best.
kind regards
Sleep
I have been very fortunate. My sleep has straightened out . I sleep 5-7 hours some nights. The relief started with learning mediation and staying consistent. Then I think the meds added after helped. I'm taking Gabapentin 900 mgs and a abilify ( I know it's a scary med) and they have helped so much. I did have the sleep study done an only slept a hour or so. I get the results on Friday. I sincerely hope you find some relief also. It was 2 years of pure hell. Good luck .
Andy Hutchinson
fatal insomni
dear millie
i am thinking about you and just wondered how you are. have you managed to get transferred to another hospital. please let me know you are ok.
kind regards
johanne
fatal insomnia
oh my god how absolutely terrible. I am going through something very similar. i haven't slept for 20 months but nobody believes me even my family. Sleeping pills don't help any more only on the odd occasion. I have lost everything and I feel so low i haven't washed my hair for a week. I just lay on my sofa all day on the internet and at night lay there with my eyes closed. I have started to have the most dreadful panic attacks when the reality of it all sets in and have woken my neighbours from shouting and screaming. I just don't know what to do anymore every second of the day is not enjoyable. I don't want to live anymore but am even scared to kill myself. i am not tired though it is really strange. I had a sleep study done recently and I was definitely awake the whole night but the results came back i had slept for 6 1/4 hours which wasn't true as I was definitely awake. like you it has taken my personality away an i don't know how long my husband will stand by me as I am trying to pretend i am ok as he believes the doctors. Life is like hell and i am afraid that it is not going to get any better. I am scared as hell to x
I swear sometimes the worst
I swear sometimes the worst part is that no one believes you . Doctor s can be absoutly terrible with sever sleepbdisorders...If is not sleep apnea they just drop it
Hang in there
no one believes you.
Yes it is really bad that none believes you. My husband has made me go and get a job i start on monday. I am not up to but he has threatened to leave if I don't go. Things cant get any worse for me.
Good luck in your new job.
Good luck in your new job. Who knows it may help some. Can't hurt. I'm lucky my wife has hung in there. I have many times considered admitting myself in a hospital and not leave until they figure something out. But I have a daughter that has a form of muscular dystrophy and even in my mess of a condition I help her out. Have you been on psychotropic meds like SSRI's ect.for extended periods. I have and I'm beginning to wonder if it may be causing this. Like a form of serotonin syndrome but no one will talk about it . It seems to be the one thing we all have in common.
good luck in your new job
hi andy
glad your wife has stuck by you. i am not on any ssris as i know these can keep you awake. you are so brave, i am not, i am in a mess all the time i just don't know what to do as nobody can help me x
Johanna Hello again. I
Johanna
Hello again. I am finally going to the apointment to set up the appointment for the sleep study Wednesday. That was not a typo...I actually had to wait a week just to get them to see me to set up the appointment. It's nuts and it's not the insurance company they have given me authorization for the study The doc's here in Tallahassee suck!!!, I'm like you I have been like this for almost 2 years too. It progressed to the point around January of this this year t that is did not sleep for 2 weeks straight. Then after that I would sleep for 1 to 2 hours . It was like my brain forgot how to get tired. I wasent all high and manic. I really wanted to sleep . T hats when I started meditation. Over the last 6 months I have gotten better at meditation and now lately I actually feel tired sometimes..Its feels so good to be tired it's like the best drug ever!! It has taken from January to now to get the sleep study done. But have you contacted the Chicago university Neuro center? They do free blood testing for different typest of rare sleep disorders. There are many types of prion diseases that can caused it. Once you have a sleep study done they will send you for a blood test and have it sent to there lab. Did the do a actual in house sleep study or did they just send you home with a pulse ox overnight? They did that on me and I sat there reading all night did not sleep once and they said it was normal . But keep working at your doctor's to get answers because over time you Will eventually decline. I had a memory and cognitive test done and it showed signdecline. I use to be a exellent carpenter and always did side jobs. I lost my regular job in December after getting injured and then with all this could not even do side jobs .I have a ton of work request but and remember or function right at all. But it has seemed to get a little better lately. I'm attempting to build a tool trailer for my business. We will see how that goes...Sorry such a long reply ..I ramble a lot
Andy
sleep study
Hi andy did you get a date for your sleep study, what did the doctors say about your sleep,
kind regards
johanne
Johanne: Yes I did it
Johanne:
Yes I did it is for September 12th. But wouldn't you know that now I'm finally starting to sleep. After 2 years of pure hell. I truly believe meditation and visitation has hhelped me the most . I actually feel tired sometimes!!!,Its like the best feeling in the world. How is your new job going? Are you getting any relief at all?
Andy
sleep study
Hi Andy
Great that you are finally getting some sleep and good luck with the sleep study.
The new job is going well but I am still suffering the same hell unfortunately.
Take care
Johanne x
so up
andy i am so upset just don't know where to turn to i wished i was dead as i am suffering so much. i know i have got something seriously wrong with me but nobody diagnose me i am being mentally tortured x