Posted by: Fatal Familial Insomnia in on April 23rd, 2011

Very rarely, some people suffer from a unusual sleep disorder called fatal familial insomnia, which manifests itself in the inability of that person to sleep and then develops into insomnia of a severe type. This kind of insomnia has been affecting persons without any notice for decades. It is a prion disease and occurs more frequently in the middle aged group, with records showing it is more common at age 50. The fatal familial insomnia disease is of genetic type.

 

Fatal familial insomnia (FFI) begins as an unexplained inability to sleep during middle age and rapidly degrades into a fatal insomnia. Apparently, it is caused by a genetic mutation which subsequently leads to a prion disease, most probably related in nature to the Mad Cow Disease and Kuru (the genetic laughing disease usually found in cannibalistic tribes that lived in New Guinea) and even Alzheimer’s Disease.

Today, the fatal familial sleep disorder is so rare that only about 40 families all over the world have been identified as having the defective gene. If only one of the parents has the gene, the child has a 50% chance of having and developing the disease.

Usually, fatal familial insomnia’s evolves in four stages. The first stage includes symptoms like lack of sleep that happens suddenly, atypical panic attacks, phobias, which have a total duration of 4 months. The next stage manifests by experiencing lack of sleep and an inability to catch up for the lost hours of sleep. The indications in the first stage worsen as a new symptom takes over; the person starts having hallucinations or false beliefs (either auditory or visual), and this happens for more than 5 months. With the physical degradation, like weight loss happening fast, the patient experiences diminished mental capacity, and the fatal insomnia falls under third stage with the duration of 3 months. The end and 4th stage of the disease is where the patient is already suffering from dementia and the inability to respond to external stimuli with a total duration of approximately 6 months. After these stages patient eventually dies due to the total sleeplessness which slowly progresses into a deep coma.

Due to the similarities of the prion disease, Fatal Familial Insomnia has been more closely linked with a lot of gene disorders like the Bovine Spongiform Encephalopathy as well as animal-specific diseases found in deer and elk.

Currently there is currently no known cure for FFI. This genetic disorder is still covered in mystery, and sleeping capsules only worsen the symptoms. Still, hope is relying in the advancement of a technology called gene therapy. This type of treatment involves the intromission of the correct gene into a sick patient altering his gene structure reverting it to what it should be the construction of the correct protein. However, in order to do this, an early diagnosis of the individual must be set, possibly by the above mentioned biotechniques. This is important because the defective gene needs to be repaired before the disease sets in. For this to be possible, the corrective gene needs to be isolated and must be suitable for transplanting as well as a proper transmitter to effectively accomplish the transfer. Since there is no other cure for this illness, bio-engineering may be the only answer if it is one day successful.

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