The Worst Disease You Can Get: Fatal Familial Insomnia and the I-Function

Ok, so I stumbled onto this website while researching insomnia for a friend. I'm starting to really worry about her. 2 weeks ago out of nowhere she lost her ability to sleep. And this is a lady who loves to sleep. She went to a doctor and he gave her meds that had no effect. She's lost at least 20 lbs in 2 weeks time. 2 weeks ago my friend's belly was so big people thought she was pregnant. Today her belly is bikini flat. The weight loss is so extreme it's jarring. Plus, there seems to be something wrong with her internal temperature regulation. She gets the hot flashes of all hot flashes with sweating and her face gets all red. She says it feels like she's burning up. We were talking about maybe a sleep clinic and then yesterday she had a seizure. A big one. She broke several toes and bit halfway through her tongue. Now she's making an appointment with a neurologist which I think is a good idea. But I'm torn about this FFI. My friend was adopted so there is no way of knowing if her family is affected by this gene but even still, the chances of her having FFI are negligible. So should I tell her about this FFI stuff and suggest she get a test done for it when she sees the neurologist or keep my mouth shut rather than scare the pants off her about some rare disease she almost definitely doesn't have. I mean, if the neurologist thinks there is a chance it's FFI he'll do the test himself right? But what if it's so rare he wouldn't even think to test for it? But even if she does have it, there is no treatment so early detection isn't going to help. I just don't want to scare her needlessly. What do you think?

this is the wrost kind of insomnia ive seen happen, mainly due to more then a month of no sleep
i have insomnia and feel great but tired
it may even be good for you besides the stres

Hi everyone! I'm 16 and I'm in Biology Honors, I was assigned to research this for a project and write a brochure, it's a super terrible disease, but like the article said only 28 families have the disease, so I highly doubt that if you are qustioning having it, that you acutally do, you'd probably be in worse shape then not sleeping. I didn't read this whole article so sorry if it says this in it, but other symptoms are like hallucinations, phobias, panic attacks, rapid weight loss, dementia, and later muteness and like you don't respond to things. And You SHOULDN'T take sleeping pills for this cause it just build up stuff on the Thalamus which controls your sleeping ability. The plaque stiff that builds up is from this one protein changing into something else and it just doesn't fumstion. So Yea! sorry if I was repettative but maybe this helped maybe not haha but good luck all! =)

I have had some kinda weird insomnia and it has been going on for 7 days now. it's really freaking me out and it's weird. NO BENZO's work and the 15mg remeron doesn't even work. and i ain't one to take much meds.... no one in my family has this or even regular insomnia so i don't know what to do... i just started taking LOPRESSOR about a month ago and it's 50mg a day. maybe it's my LOPRESSOR? i have to take that for my inappropriate sinus tachycardia syndrome............

this is a horrible disease and i wonder why on earth there is such a horrific thing like this? who made this disease? they did not have this before the 1900's did they???? well i have insomnia... i have a hard time falling asleep at night so my doctor put me on remeron and it helps a lot so now i get 9 hours of sleep each night... maybe y'all should try remeron??

i have been unable to sleep since may 08, now its sept im possitive i have some form of ffi, i had all the symtoms from supper panic attacks for two months with no help from sleeping pills, sweating and weight loss and motor skills are getting worse, my head feels like jello but i still can remember and think as good as ever which is the worse part of this hell, i have enough money to last till june but i dont think my body will last that long its in gods hands now

In the world we live in today, It is really a shame that people are still so quick to assert their archaic religious beliefs as being the answer to everything. This disease is one that will most likely evolve itself to extinction as I'm sure many other rare genetic diseases have done in the past. This is simply a genetic disorder. It is not a "punishment" from God... just to humor this concept, wouldn't only the worst "sinners" in the world be struck with such a devastating disease? We understand exactly what causes this and unfortunately until gene therapy becomes a reality it's virtually untreatable.

Throughout history we have had a countless number of problems there was no answer to. Naturally when there is no easy answer, It's simple to blame it on a supernatural entity that is all-knowing and all-powerful. As we progress through history these problems get factual, scientific solutions that allow us to conquer them and succeed as a species. Because of this It is truly sad that there is ridiculously large portion of society that is stuck in the dark ages. Perhaps that sort of thinking is easier to grasp then how complex the world actually is. Whatever the reason, please, do the rest of us a favor and keep it to yourself. The people that can look outside the box will be out solving the worlds problems while the tunnel-vision religious group is waiting till 2012 to prove us all wrong.

We are living in an era where we understand more now than we have ever understood about the workings of the human body, about the origins of the universe, about the formation of galaxies and other celestial bodies, and the world in which we live. This is not to state or to imply that we know everything that there is to know, or that we are even close to understanding everything that there is to understand -- but we are in a position now to understand that physical diseases have causes that can be determined, and that many of these diseases can be treated.

I suffer from an inherited genetic disorder too. My disorder is not nearly as horrible or as terrible as FFI, but it has caused me a great deal of physical pain. In short, my connective tissue is insufficiently elastic. This leads to serious impacts to multiple organ systems, including my bones, my heart, my joints, my skin, my skeletal structure, my eyes, and other systems. I have been placed on an aggressive pain management schedule involving oxycodone and other opiates / opioids, and I undergo regular CT scans, MRI scans, and echocardiograms to diagnose and monitor any potential cardiac abnormalities that may arise (and are eventually likely to arise).

This is not a punishment from God, and it makes me cringe to read accounts by other people who revert to the archaic belief that physical illness is a form of punishment for sin. I am openly gay, and have heard fundamentalist preachers and ignorant laypersons assert that HIV infection is a form of punishment from God (I am lucky in that I learned about HIV and its transmission before coming out and before becoming sexually active – knowledge of how to prevent infection combined with a determination never to engage in unsafe sex was the only thing that kept me from becoming infected). Physical diseases are not punishments – they are processes. Some diseases are caused by microbes. Other diseases are caused by faults in the genome of the patient (as in my case). People living in Africa who suffer from such diseases as cholera, kwashiorkor, and malaria are not being punished for sins; they are the unlucky victims of poverty and starvation.

This is not the time to browbeat a person suffering from FFI – or to browbeat yourself. FFI is a prion disease caused by two point mutations resulting in two amino acid substitutions that should not occur. That is the bottom line. FFI is a tragedy, and it should be acknowledged as such. The last thing that persons suffering from this disease (whether directly or indirectly) need is pious sermonizing by people who wish to return medical understanding to the dark ages.

PHILIP