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Fatal Familial Insomnia Is Untreatable And Deadly

Saturday, March 17th, 2007 Subscribe To Our Feed

A form of an inherited gene disorder called fatal familial insomnia is a rare ailment, affecting fewer than 50 families around the world, but is untreatable and almost always fatal. If one parent has the gene, there is a 50 percent chance it will be handed down to their children. Once the illness begins to present itself, in seven to 18 months the patient will completely lose the ability to sleep and death results.

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The gene causes mutation of a protein, which causes plaque to form in the thalamus, the portion of the brain that controls sleep. This stage of fatal familial insomnia initially results in insomnia and for about four months of this progression, can cause panic attacks and unfounded fears of just about everything. For another five months, the panic attacks will become more pronounced and hallucinations may also result from the lack of sleep.

The third stage of fatal familial insomnia lasts about three months and causes the patient to completely lose the inability to sleep and is typically accompanied by rapid weight loss. The final stage usually results in dementia and the patient may become mute during the final six months of the disease progression. This is the final stage that usually results in death. There is no known cure or treatment regiment for fatal familial insomnia.

Finding Relationship To Other Brain Disorders

As research continues, relationships with other gene disorders such as bovine spongiform encephalopathy, or Mad Cow Disease, and also chronic wasting disease found in deer and elk. These prion diseases may be related at the gene level as well as kuru, known as the laughing disease that causes sudden outbursts of laughter for no apparent reason.

The ailment has presented itself at various ages, ranging from 30 to 60 years of age, with an average of about 50 and death usually occurs within seven to 36 months of the onset. The form of fatal familial insomnia in humans is not contagious but the onset will vary from patient to patient, even with siblings from the same family. Gene therapy is still being researched but so far has not proven successful in fighting the ailment.

While studies of fatal familial insomnia continue, it is believed the lack of the ability to sleep is the underlying cause of the panic attacks and hallucinations, it is the formation of plaque in the brain that shuts down the person’s ability to sleep.

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