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
holes in the brain until parts of it begin to resemble a
sponge or Swiss cheese.
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
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.
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
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.
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.
of Fatal Insomnia
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.
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.
the Disease Progresses
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.
onset of insomnia leads to sleep
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
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.
/ Cures for Fatal Familial Insomnia
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.
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.
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.
to the Snoring