What Is Fatal Familial Insomnia (FFI)?
FFI is a Rare Sleep Disorder that Attacks the
Part of the Brain that Regulates Sleep
Fatal Familial Insomnia (FFI) is a devastating disease
that is, fortunately, quite rare. It is a genetic sleep disorder
that has been found in only a few dozen families so far.
The thalamus is the part of the brain that is responsible for
sleep regulation. When this disease strikes it causes a mutation
in the protein in the brain tissue that results in a mis-folding
that destroys the normal structure in the thalamus. These mutated
proteins are called "prion proteins".1
Cause of Fatal Familial Insomnia
The cause of this fatal insomnia is this damage
to the thalamus and is similar to other "prion diseases"
such as the much better known Creutzfeldt-Jakob Disease
(CJD), Kuru (which occured famously among the
Fore tribe in Papua New Guinea due to their coming in contact
with infected tissue, particularly brain tissue during their funeral
practices) and Bovine Spongiform Encephalopathy
(BSE) in cattle. BSE has made headlines around the world and you
may have heard of it referred to as "Mad Cow Disease".
Stages of Fatal Familial Insomnia
There are basically four stages in the course of this
sleep disorder before the patient eventually dies.
-
STAGE 1 — Initially there is a sudden
onset of insomnia accompanied by panic attacks and phobias
that plague the victim. This first stage can last about 4
months.
-
STAGE 2—In the second stage the panic
attacks and psychological trauma deepen and also results in
profuse sweating and hallucinations. This stage devolops over
the next 5 months.
-
STAGE 3—By the third stage the patient
is suffering from total insomnia and loses weight rapidly.
As their body is impacted by the effects they can begin to
appear very drained and haggard, begin losing control over
bodily functions and may become incontinent. This goes on
for about 3 months.
-
STAGE 4—In the fourth stage there
is total insomnia combined with dementia. Patients eventually
become unable to speak and death occurs usually within 6 months
in this final phase.
It is unknown where fatal familial insomnia began but researchers
believe that the first case occured about 250 years ago in a wealthy
Venetian doctor, referred to as "Patient Zero". After
his death in 1765 the disease has been found throughout the generations
in families that descended from him.
Symptoms of Fatal Familial Insomnia
As the disease progresses it transforms a vital, healthy and
dynamic individual into an unresponsive, delerious shell of their
former selves.
Sleep begins to slip away. Eight hours of sleep a night become
seven, then five, then down to only one. Eventually, even that
precious hour is lost to complete and utter sleeplessness.
Without sleep it is impossible to remain physically or mentally
healthy. As the REM cycles of sleep that result in dreaming invade
the sleepless mind hallucinations come and then go. Moments of
lucidity drift in and out becoming ever less frequent.
They are trapped in an excruciating state of exhaustion and can
even appear to be about to fall into a blissful sleep —
but sleep never comes.
The struggle goes on for the patient and their families who can
only look on in horror and do what they can to aid and comfort
their loved one as fatal familial insomnia mercilessly advances
toward inevitable death.
This disease is particularly insideous as it usually only becomes
active after a person has reached child bearing years and has
already passed the genetic disorder to the next generation. Children
of parents with fatal insomnia have a 50 percent chance of inheriting
it.
Fatal Familial Insomnia Video
References:
1. Fatal
Familial Insomnia by: Ann M. Akroush
2. Johns
Hopkins University: Insomnia, Fatal Familial
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