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Fatal Familial Insomnia: As Rare As It Is Deadly

When it comes to sleeping disorders, there is absolutely none worse than fatal familial insomnia. This condition is actually classified as a genetic sleeping disorder, although to be honest, it's not so much related to the other sleeping disorders you might be familiar with. In fact, fatal insomnia is most closely related to Mad Cow disease and Alzheimer's.



As stated, fatal familial insomnia belongs to a group of genetic disorders known as prion disorders. The term prion actually refers to a specific type of abnormal or mutated proteins that begin to develop in the brain and will eventually cause extensive nerve damage and leave many small holes in the brain until parts of it begin to resemble a sponge or Swiss cheese. 

It is these same abnormal prion proteins that are responsible for causing bovine spongiform encephalopathy in cows (Mad Cow disease) and also Creutzfeldt-Jakob disease in humans. These prions mutate and the result is a protein that is improperly folded, which then begins to quickly replicate by replacing their healthy, properly folded protein counterparts.

The prions responsible for FFI make their home in the thalamus region of the brain, which they soon begin to slowly eat away. The thalamus is the part of the brain responsible for some of our motor and sensory systems, but most importantly helps to regulate sleep and sleeping patterns.

 

When the thalamus begins to be damaged by these prions, the unlucky person will begin to lose the ability to pass between waking and unconsciousness. In short, they will eventually totally lose the ability to fall asleep.

 

fatal familiala insomniaIn fact, the unlucky few who have to experience this dreadful condition often soon start showing patterns in EEG readings similar to those seen during REM sleep, despite the fact they remain fully awake. This is caused by the fact that they are becoming so sleep deprived that they are basically dreaming while being awake.

Little is actually known about this genetic disorder and it wasn't even fully discovered or recognized until only a few short years ago. Still, the one thing that is certain is that this disease is a guaranteed death warrant. Any person who was unfortunate enough to have the gene passed to them will almost certainly die of it sometime during their middle ages.

Most people find all of this information to be incredibly scary, and in fact, fatal familial insomnia is often referred to as the most deadly and terrifying genetic disorder there is. However, there is no reason for you to panic, as this disease is also one of the rarest. It is estimated that only around 40 families worldwide actually carry the genes for this disorder, so the chances that you or your children have it are almost zero.

History of Fatal Insomnia

Doctors and medical researchers have actually been able to trace this disease back to its first known occurrence, which happened to a man in Venice, Italy in the mid 1700s. 

They were then able to see that many of this man's descendants over the next two hundred years also developed this disorder and were soon killed by it. Although all of this information was only uncovered recently, it has allowed doctors to begin to get a better overall view of this disorder and how it works.

How the Disease Progresses

If a person has had this genetic disorder passed on to them, they will show no symptoms until they reach their middle ages, with the first signs of the disorder usually showing up when the individual is in their forties. The first signs will resemble insomnia, with the person finding it more difficult to fall asleep and often waking up after only a few hours. 

fatal familial insomniaThe onset of insomnia leads to sleep deprivation, which then begins to cause the person to experience panic attacks and bouts of paranoia. These basic signs of insomnia usually last for somewhere around four months before the condition begins to worsen.

After a few months, the sleep deprivation begins to become more and more pronounced as the person's insomnia continues to worsen. This in turn leads to more severe panic attacks and hallucinations. This second stage of the disorder usually lasts for at least a few months more.

After experiencing worsening insomnia for almost two-thirds of a year, the signs of the wear it is having on the body and mind begin to be more apparent. 

The person will usually start to rapidly lose weight and their motor skills will also begin to falter. By this point, most patients have been experiencing insomnia for nearly a year.

Finally, the condition becomes so severe that the person starts to experience all of the signs of dementia, that is, during the few moments of the day where they are responsive at all. This condition usually lasts for up to a half a year more before the person finally succumbs and dies as a result of it.

Treatment / Cures for Fatal Familial Insomnia

One of the scariest things about fatal insomnia is that it is virtually a death sentence. There is absolutely no cure available, and even worse, doctors don't even have a way to manage or treat the insomnia, panic attacks, hallucinations, and dementia that accompany it. 

Basically, if you are one of the ill-fated people that have this disorder, you are on your own. The condition will cause your mind and body to deteriorate, and there is nothing anyone can do for you.

The major problem with this disorder is that a person doesn't show signs of it until at least their forties, meaning they have usually already had children by the time they find out they have the disorder. This also means that there is a 50% chance that they passed the disease onto their children. 

Luckily, there are now tests available to determine if a fetus has the disorder early on in pregnancy, in which case an abortion is almost always performed.


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