Fatal Familial Insomnia

This is probably one of the most terrifying disorders I can possibly imagine someone having to experience.

"Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The dominant gene responsible has been found in just 50 families worldwide; if only one parent has the gene, the offspring have a 50% chance of inheriting it and developing the disease. The disease's genesis and the patient's progression into complete sleeplessness is untreatable, and ultimately fatal.

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:

The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.

Hallucinations and panic attacks become noticeable, continuing for about five months.

Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.

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."

http://en.wikipedia.org/wiki/Fatal_familial_insomnia


Its said that the gene is found in only 28 families worldwide, why are there so few cases? I would have thought that as every member of the family who has the gene reproduces it would broaden the access of the disease. It was first discovered in the 70s. With a 50% chance of inheriting this disorder why has it taken so long for medical science to notice it? The symptom is so outrageous it couldn't possibly go unnoticed.

And does anyone know why sleeping pills are not only ineffective but worsens the disorder? Actually am I correct to call it a disorder is disease a better description?

 

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Yeah I remember reading about this once too! I was going to write a short story from the perspective of someone suffering from this disease and his descent into insanity...

But I lost the motivation...

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Good question. My guess is that the disease is the consequence of a relatively recent mutation, having so far had only a handful of generations to spread.

 

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So does this mean if its a recent mutation that it could spread given time? What would cause a mutation? I mean AIDS was said to come from human contamination with animals, why would a gene suddenly mutate and create a new disease?

Sorry for all the questions, this really fascinates me but I don't have a good grounding in either genetics or biology.

Also why does it start to affect the person so late in life?

 

The Nazis did experiments with sleep deprivation in their camps. Some of the test subjects survived the sleep deprivation and were able to function. And later on, after the war, they were still unable to sleep, but were otherwise functional.

This suggests that it must be possible to become so trained as to manage to live without sleeping.

 

It appears to be rare. And many people who have it have probably committed suicide long before the symptoms manifested fully, so there aren't many patients to study to begin with.

Sometimes times when someone commits suicide, their relatives and friends say things to the effect of "He /she was fine, but then suddenly, became really strange, without any apparent reason."

Some of those suicides might have been due to that type of insomnia.


Lesson: Don't become attached to sleeping.

 

No Signal this is the INABILITY to sleep. Even a person who is sleep deprived will physically nod off and someone would be forced to awaken them or rather they would be awakened by force. These individuals PHYSICALLY CANNOT sleep, they never crash out. Even someone in a manic state will eventually physically crash but this never happens with this disease.

Signal: Some of those suicides might have been due to that type of insomnia.

Well I am sure someone suffering from FFI might very well want to commit suicide but I doubt it would be a matter of 'he was acting strange one day'. The person would know very well that they are not sleeping and if a parent had the disease they would know very well what was going on and so would those around them.


Signal: Lesson: Don't become attached to sleeping.

Well that's just a stupid comment. A human being cannot function without sleep.

 

Which just goes to show how much people are usually attached to sleep and rely on sleep to find mental rest.

There would still be an issue of establishing causation. Did the insomina cause the strange behavior, or was it something else that caused both insomnia and the strange behavior?

And you know this how?

 

Excuse me ? :bugeye:
Long term sleep deprivation can even cause death.

 

Signal: And you know this how?

How else would the body build and restore itself? FFI is fatal within months and that is simply because the person no longer has the ability to sleep.

Signal: There would still be an issue of establishing causation. Did the insomina cause the strange behavior, or was it something else that caused both insomnia and the strange behavior?

They behave strangely after some time just like a manic person would because they are not sleeping. Read the OP: (FFI) is a very rare autosomal dominant inherited prion disease of the brain.

These are not people who are suffering from a mental or stress disorder they have a disease where sleep no longer occurs and the consequence of lack of sleep is eventual hallucinations and probably disorientation and these would be the least of their symptoms. Ever see someone not sleep for three days straight? What about a week? What about a month with no sleep whatsoever? I don't mean 'keeping oneself awake', I mean not being able to sleep where the body overrides its own need to sleep.

Signal: Which just goes to show how much people are usually attached to sleep and rely on sleep to find mental rest.

Signal you use the word attached. Would you say we are attached to defecation and urination? Or would you say its a requirement? What do you think would happen to a person who couldn't defecate or urinate for say two months (if they lasted that long before septicemia killed them)?

 

If you physically lost the ability to sleep yes.

 

I'm guessing nobody knows for certain then

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Jesus, what a way to go.

 

There are meditation techniques that are purported to be even more efficient in restoring the body than sleep.

Some meditators sleep about 2 hours a night, or less, and meditate for 4 or 6 hours.
Of course, this sort of meditation requires quite a bit of practice and a quite different lifestyle than we are used to here in the West.

I don't know anyone who doesn't have some mental, emotional or other stress issues.

And it's not likely that those who have FFI actually know they have it. If someone can't sleep, people in general, and doctors, and the sufferers themselves, first suspect a number of other things. Bad food, money problems, relationship worries, suppressed emotions from childhood abuse ...

I happen to have some first-hand experience of this.

It's not clear whether sleeping is in the same category as defecating and urinating. I do not think it is.

 

Or if you are constantly kept awake, I imagine.

Anyhow, the sole fact that they are using it as torture pretty much proves that humans cannot function without sleep.

 

True which is why I find this such a terrifying disease. I mean wanting to sleep and knowing it is delayed is bad enough but physically going through day after day without the ability to sleep must be horrifying.

 

Its 28 families worldwide. There is a non-fiction book by D. T Max called 'The Family That Couldn't Sleep'

The New Yorker book review:

"Beginning with the story of an Italian clan whose members die of a mysterious inability to sleep, Max traces science's tortuous path toward understanding prion diseases—a category that includes scrapie in sheep, B.S.E. in cows, and kuru, a disease spread by cannibalism which decimated one New Guinean tribe. Victims of fatal familial insomnia lose control of neuromuscular function, existing in a merciless limbo between sleep and wakefulness until they die of exhaustion. For a half century, prion diseases have baffled scientists, because the transmission of illness by proteins, which are non-living, was considered impossible. Max, who suffers from a distantly related neuromuscular disease, narrates recent advances in prion science with engaging clarity. But, as he reflects ruefully, "the neurologist can diagnose you but he can't cure you."

 

I think it might just be bad enough to kill yourself over..

P.S.
Oh come on, answer my PM

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Signal: There are meditation techniques that are purported to be even more efficient in restoring the body than sleep.Some meditators sleep about 2 hours a night, or less, and meditate for 4 or 6 hours.Of course, this sort of meditation requires quite a bit of practice and a quite different lifestyle than we are used to here in the West.

I can tell you didn't read through the link nor did you thoroughly read the OP. If sleeping pills won't work for these people then meditation certainly will not. Its a disease not a syndrome. Its a genetic disease that runs through specific families. Its a neurological brain disorder that will KILL the person who suffers from it within a short period of time.

Signal: And it's not likely that those who have FFI actually know they have it. If someone can't sleep, people in general, and doctors, and the sufferers themselves, first suspect a number of other things. Bad food, money problems, relationship worries, suppressed emotions from childhood abuse ...

Again I can tell you don't read. They do know they have it because one of their parents would have had to have died from it. The day these people realize they cannot get to sleep is the day they realize its the beginning of the progression. D. T Max was able to trace one Italian family's FFI illness all the way back to 1765; its genetic with a 50% chance of inheriting the disease is one parent has it. In other words the chances are great that an offspring will come down with it.

Signal: I happen to have some first-hand experience of this.

No you haven't. Even an insomniac will be able to get some sleep even if it is only two hours. This is no sleep EVER AGAIN from the time the disease begins.

Signal: It's not clear whether sleeping is in the same category as defecating and urinating. I do not think it is.

It is as a physical requirement. Are you a dolt? :bugeye: Because you seem to not understand this thread is about a DISEASE. And that there are physical requirements, daily physical requirements that if go unmet lead to death.

 

Yes it would.

 

So meditation could be a form of treatment then?