Fatal Familial Insomnia

Imagine what it would be like to stay awake forever, never tasting the sweetness of a good night sleep or a dream, ever. Imagine being up all night and unable to shut your mind or thoughts even for a few hours while the world sleeps. This happens to people with fatal familial insomnia (FFI). This is a fatal disease. It is an extremely rare disease. It causes gradual exhaustion and breakdown of the body.

Death occurs 1-2 years after the symptoms of insomnia appear. Other symptoms include personality change, sense of fear, hallucinations, weight loss and inability to speak or walk and significant cognitive problems (dementia). At the end, the individual becomes unresponsive and death becomes inevitable. It is an unfortunate disease for those who are afflicted with it. The part of the brain that typically gets affected is called the thalamus.

It is caused by either a spontaneous (sporadic) or an inherited genetic mutation. The gene is located on chromosome 20.  The mutation causes a protein to become altered or changed to a slightly different structure. The protein is called PrPsc. It is a prior protein. Creutzfeld-Jacob Disease is another type of prior disease, but the two are not related.

FFI can occur at any age, but typically later in life. Genetic testing can detect the disease. Unfortunately, there is no treatment yet.  Management of the symptoms to ameliorate the suffering is possible. Sleeping pills do not help.