Dying to Sleep

Dying to SleepThis Discovery documentary deals with a very rare and unusual prion disease called Fatal Familial Insomnia or FFI for short.

FFI is a prion disease that targets the thalamus, of which of its many functions is the sleep regulator of the body. The prions form aggregates of amyloid plaques that destroy the neurons in this area.

The age of onset is variable, ranging from 30 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following childbirth.

Death usually occurs between 7 and 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.

The disease has four stages, taking 7 to 18 months to run its course:

  1. The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.
  2. Hallucinations and panic attacks become noticeable, continuing for about five months.
  3. Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.
  4. Dementia, during which the patient becomes unresponsive or mute over the course of six months. This is the final progression of the disease and the patient will subsequently die.

Other symptoms include profuse sweating, pinprick pupils, the sudden entrance into menopause for women and impotence for men, neck stiffness, and elevation of blood pressure and heart rate. Constipation is common as well.

Watch the full documentary now (playlist - 35 minutes)

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Ratings: 7.67/10 from 12 users.
  • DG

    My heart goes out to all affected by this truly horrific disease

  • Connie

    AHHH. I think Vlatko was watching my posting times last night. when i only slept a couple hrs. LOL

  • Achems Razor

    Yes, I do believe so. (LOL) You probably kept him up.

  • http://esmuziq.blogspot.com esmuziq

    damn this is insane

    i almost feel like a plant after not sleeping for 4 days
    imagine 9 months oh my daze

  • ez2b12

    I stayed up like five or six days once when I was young. I was hallucinating horribly and unable to coordinate. And no i was not on any drug, just young stupidity. Now I can't stay up even two days without simply passing out while I walk. Any way its time for the movie to start so I'll shut up, post more later.

  • ez2b12

    Wow, These poor people. What a decision to make. I think I would not want to know, unless i was about to have a kid or get married. If I knew I had a desease like this and it was just a matter of time I couldn't really live life. I do not think any one should know when they are going to go or how, its just to consuming and depressing. In reality we should all live like thier may not be a tommorrow, because in reality tommorrow is not certain.

  • Connie

    Ok My Day is done, I just made popcorn with Italian dressing Cause ez2b12 ate all the popcorn I made today and used up all the oil.
    It worked too. not perfect but it worked.

    There are so many good Docs to watch tonight I dont know where to begin. Maybe i will go back and watch them in order.

    Thanks Vlatko I dont have cable or satellite but since i found your docs. I know I am not missing a thing.

  • c2believe

    How ironic, found this one after waking up super early. *opens popcorn*Hope it lulls me back to sleep...Hey,Connie,what does the Italian taste like on it,anyways?Pass the dressing over,may have to check that out.

  • Brian

    Selfish people, why do they pass on the gene to potential children? Game over, wipe it. How you can roll the dice with such a terrible certain death I'll never be able to empathize.

  • Wink

    That sounds god-awful. I'm cranky and not myself when I don't get my 8 hrs.

    @Brian - It didn't seem to me that the people in this doc were purposefully passing on bad genes.

    @Connie - Italian dressing instead of veg. oil? I gotta try me some of that.

    @ Vlat - I've spent an innordinate amount of time on this website. I'm not sure whether I should thank you or hunt you down and punish you. :)

  • Connie

    @ wink
    Vlatko should get a good laugh I did . LOL

    @wink & c2believe

    Dont try theItalian dressing unless you are deperate.
    The water and vinegar has to boil out and not all the kernals popped.
    But it did give me more than half of what I put in.

  • isabella

    Yikes. This is third documentary I have seen about this cursed disease (in the last couple years). -All with different people dying of it. Maybe not as extremely rare as it portrayed. Frightening to know of it.

  • Emily

    I read about a scientist who conducted a sleep-deprevation study on himself, with the help of some of his staff. (Do not know if it was official or not.) He deprived himself of any deep sleep for 45 days, I think, and found that the hallucinations and waking dreams did not stop completely after he ended the study (earlier than anticipated if I rememer correctly.) He had auditory/visual hallucinations occasionally for years following the experiment. Sorry about the lack of detail but it was during my undergrad.

  • Sandman

    In my opinion, a check-up for the gene should be mandatory if you know you have the gene in the family. And if you choose not to take the test, you shouldn't be allowed to have children! It's so unfair to the poor children! Like those innocent crack babies that's addicted to drugs from birth or HIV positive! If you KNOW u have a fatal disease or fatal gene in your family, be responsible and don't pass it on! Where i live, it's punishable by law (if you KNOW you have HIV/AIDS) to have sex with someone without telling them about it first. It should be the same with fatal genes!

  • Charles B.

    I think I would want to know. That was so sad. I'd want to know to make sure the gene wasn't passed on to my kids.

  • K.T

    I'd prefer to simply inherit my mental legacy to an orphan than to bring to life kids with genes that should simply not survive in humanity :(
    Since they knew people died in their family it seems almost criminal that these people with the 14 deaths in the family had children.

  • lm

    couldn't you technically just be drugged and be put to sleep in a hospital for some time being?

  • Connie

    @ lm
    That sounds like a simple solution to an engineer problem. Good thinking ( so obvious thats it slips by the thinking)

    Good question : lets see if anyone knows the answer.

  • Connie

    @ Sandman

    I wouldnt catorgorize a drug addict who willingly chooses their path to these cases whom these Genes were not a choice.

    I believe the Doc. did not say everyone who has the Genes will definitly die from it. I personally don't think its wrong to take the chance anymore than people who have high cholesteral or cancer, Altheimers etc...

    Besides here we have a persons faith also playing in the cards. Who says death is a bad thing? I belive its just a phase we pass thru. We are spirit beings and who can say what dimensions and phases of life we experience after the physical death.?

    Suffering with knowing? Does not matter either ! Each and everyone of us experience our own levels of suffering.

    Who would want to have a baby ? they know the suffering and the chances of something going wrong and the pain and even death occurs sometimes.
    Who would want to have a babies knowing they would someday die anyway.

    Who would ever give their chilren junk food knowing that kills them or a teenager a car?

    WE were all born with procreational instincts and It is more natural and holistically correct to follow and let nature takes its coarse rather than not allowing that Spirit to be born of flesh and live whatever length of life it has.

  • Sandman

    @ Connie

    The parents who has this gene KNOW how fatal it is (100%) but still, they WILLINGLY and consciously choose to possibly pass it on to their children! That to me, is an extremely selfish and irresponsible act!

    And yes, if you have the gene, you will die from it. It's just a matter of time (death occurs between 7 and 36 months from onset and there is no cure or treatment for FFI).

    If only 1 parent has the gene it's a 50% chance their children gets it. If both parents has it, the children will get it 100%.

    To compare this with giving your child junk food or a car is just absurd! That's something a parent can choose to give/not give their child when it's already born! But if you decide to possibly pass a deadly gene on to your children before they are even conceived, that's like giving your child a gun with half the bullets in it and let them play russian roulette!

    Only animals that doesn't have our awareness MIGHT pass on a deadly gene to their offsprings, but most of the time, if an animal is born with a defect (never so small) it will be left to die to make sure the defect won't be passed on to future offsprings! THAT'S natures course and the most natural and correct behaviour!

  • isabella

    I agree with Sandman, although it is difficult for me to ascertain what is 'correct'. It does seem irresponsibly odd to knowingly inflict a human being with this disease.

  • Sandman

    @ isabella

    Just want to clear up a few things about my previous statements.

    The last piece of my comment was ment as an emendation to Connies statement, and i quote: "WE were all born with procreational instincts and It is more natural and holistically correct to follow and let nature takes its coarse rather than not allowing that Spirit to be born of flesh and live whatever length of life it has.".

    Since a fatal gene like FFI would never consciously be passed on to generation after generation amongst wild animals, that means Connies statement that it's unnatural and incorrect not to allow that spirit to be born, is quite the opposite..it's natures course and totally natural (correct behaviour in the wild) to stop fatal genes to spread!

  • isabella

    @Sandman
    Thank you for the clarification, as I see you picked up on my perception of 'correct'.

    I understand your statement, and agree.

    All points of view on this subject are thought provoking.
    Due respect. :)

  • Charles B.

    Sandman: You said: "If only 1 parent has the gene it’s a 50% chance their children gets it. If both parents has it, the children will get it 100%."

    That's not statistically correct. If one parent has it, it is indeed a 50/50 chance of passing it on, but if both parents (extremely rare I would think unless you marry your sister or cousin), then it would be a 3/4th chance of passing it on unless one parent has two genes for the FFI disease.

    This is why two people with the dwarf gene can still have normal kids (a more common situation). Double dwarf genes are fatal and they don't develop past the embryo/fetal stage. A single dwarf gene makes a dwarf person, but there are many cases where two dwarf parents have normal kids where the kids luck out and get the normal gene from both perents. It happens. That means two dwarf parents should expect 2/3 dwarf children as the 1/4 will die in the womb, and the other 1/4 will be "normal" without the dwarf gene.

    I know, I know, spliting hair, but biology was my favorite subject in school and genetics always intrigued me a lot.

    Either way, I think I'd adopt if I really wanted kids if I knew I had this gene myself.

  • Sandman

    @ Charles B

    There are 27 different families worldwide known to carry the FFI gene today. So it wouldn't be impossible for both parents to have the gene and passe it on to their children.

    About Achondroplasia (the most common form of dwarfism). This is a autosomal dominant (AD) genetic disorder (the aptitude appear even though only one parent has it, the disease influences the sexes equally). The dwarfism aptitude can be passed on differently depending on the chromosomes. For example, the autosomal recessive (AR) disorder only appear if both parents has it and the X-linked hereditary can be both dominant or recessive and it affects the sexes differently.

    Therefore, there are many different types of dwarfism and they don't share the same heredity percentage as Achondroplasia. But you are correct about the percentages regarding Achondroplasia :)

    All dwarfisms are mutated genes in the fibroblast growth factor receptor gene 3 and a permanent change in the gene pool. The FFI gene on the other hand doesn't change the gene pool and doesn't contain DNA it self since it's a proteinaceous infectious particle (Prion). It's a mutated Prionprotein gene and therefor it's different from Achondroplasia when it comes to heredity percentages.

    I'll stop with my sermon now, but i agree with you Charles, biology is very interesting and that's one of the reasons why it upsets me when people consciously pass on these fatal genes!

    Kudos to you for considering adoption instead of passing the gene on (if you had the gene)! It's what you teach your children that's most important and make them who they are! (in my opinion)

  • Karen

    This desease gives us more clues to what sleep is all about. The curious thing is how some people get it spontaneously.

  • Doc

    Interesting, but I feel like the documentary just ended in the middle of the story!

  • N.B.

    Why don't they stop having kids for the love of god!!!!!!!!!!!! If I knew that there was such a high chance that my kids would die in this horrible way there's no way I'd have kids unless they were adopted.

  • CuriosityKilledTheCat

    For everyone complaining about passing on the bad genes. Did you not see the full program? Some of the cases are spontaneous mutations not linked to a long family history.

    If there was a definitive test for Alzheimer's should those people who are carriers also not have kids? Even though it won't show up for 50-70+ years?

    It seems as if FFI shows up usually in the 30+ age area. That is a decent life compared to some other rare and fatal syndromes such as Tay-Sachs (dead by 5yo usually) or Canavan disease (dead by 4yo usually) or SCID (bubble boy syndrome) usually dead in early childhood unless exteme measures are taken. Duchenne muscular dystrophy has a life expectancy of late teens to early 20's, Cystic Fibrosis (In the United States, the life expectancy for infants born in 2008 with CF is 37.4 years {wikipedia article}), there are any number of other rare diseases that cause you to die usually before 30.

    What if the syndrome isn't fatal but just disfiguring? Lobster claw syndrome, ectrodactyly. Should those people never have children and pass on their bad genes?

    What's next? People with light pigmentation are more prone to skin cancer, should we get rid of them? And albinos in Africa horrific rates of skin cancer. Should we just stop them from reproducting? People with redhair have the ginger gene and experience greater pain than others (anesthesiologists use about 1/3 more anesthetics to put redheads under). Since they experience greater physical pain than non gingers should we just save them a painful life?

    Nothing like a good eugenics program to weed out the bad genes! Humans show their humanity by taking care of other humans when that individual is incapable of doing so and working together to form a super-organism we call society.

    Who knows how many POTENTIAL fatal syndromes you carry right now? Who is gonna pay to test you, and your mate for ALL of them so you can have that perfect child? Should we test all fetuses for all of them just because there is a possibility of a spontaneous mutation, and abort the ones that are "defective"? Because you know there IS a chance of more than one pregnancy having a spontaneous mutation with the same disease (astronomical odds, but still possible).

    And as for how fatal this disease is, well I guarantee you your life is 100% fatal at some point!

  • toddy

    That must be a truly horrific way to go. This is takeing it to the max with this extreme form of insomia. I tend to have insomia , but I am really thankful that I can sleep some times. I Have experienced sleep derprived halucination's before, I would say I rather have a lsd halucination over the other one. The one thing that really helps me is a puff or so of cannabis.

  • zawadi

    it did... i hate that

  • http://www.facebook.com/jaimecarrion Jaime Carrion

    agreed!

  • Ida P.

    I hate Discovery documentaries! Stupidly repeating the same thing over and over again... They do this just because the movie on television is repeatedly interrupted by commercials. BBC makes TV documentaries a thousand times better than Discovery! Ugh...
    I'm still going to make myself sit through this whole thing because I want to hear the story, but it's just intelectually insulting.

  • Ida P.

    Also, I think there's something missing between parts 2 and 3. Part 2 ends with prof. Pierluigi Gambetti saying there were unexpected lesions in the thalamus and then -bam!- part 3 starts with the White family being tested. Where did the information about the thalamus lesions go? :-(

  • Ida P.

    Thing is, sporadic FFI doesn't have to be a mutation at all.

    Prions are proteins that are mostly found in the brain. (Some are also in the lymphatic tissue, like the tonsils.) Prions are considered to be the fifth kind of infectuous agent, after bacteria, viruses, fungi and parasites.

    A 'healthy' prion has a normal configuration. A 'sick' prion has a scrambled configuration: it's folded in an abnormal way. 'Sick' prions have pretty much the same amino-acid sequence as 'healthy' ones do, the difference often lies simply in the way they're folded three-dimensionally. The scary thing about 'sick' prions is that somehow they induce the 'healthy' ones to change shape and become like them. Little by little all of the prion proteins in the brain become scrambled. And somehow this causes neuronal cell death, even though no inflammation occurs.

    There's variant Creutzfeld-Jacob alias mad cow disease. This is a sporadic disease. At some point a patient will have had contact, probably through food, with the 'sick' prions. Over the course of several years, his/her own 'healthy' prion proteins will have converted to the 'sick' form. The documentary doesn't go into details, but the way someone gets sporadic FFI could be similar.

    I can also think of another way. A few of the patient's cells may be producing 'sick' prions. The mutation arises later in life and is not found in most cells of the body. The patient has a mosaic mutation pattern, if you will - it's found in some cells, but not in all of them. The disease is, most likely, not heritable.

    I kind of get the impression that nobody really knows if FFI can be transmitted horizontally (through food, surgical instruments) or not.

  • Sara tayeb

    Same here, was really curious about finding out whether the two siblings had it..