Fatal familial insomnia, very rare incurable genetic disease

By | February 1, 2010

I just looked up fatal familial insomnia. What a wretched way to go.

Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The gene mutation responsible has been found in just 50 families worldwide; if only one parent has the gene, the offspring have a 50% chance of inheriting it and developing the disease. The disease’s genesis and the patient’s progression into complete sleeplessness is untreatable, and ultimately fatal. …

The age of onset is variable, ranging from 30 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following childbirth. Death usually occurs between 7 and 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.

The disease has four stages, taking 7 to 18 months to run its course:

  1. The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.
  2. Hallucinations and panic attacks become noticeable, continuing for about five months.
  3. Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.
  4. Dementia, during which the patient becomes unresponsive or mute over the course of six months. This is the final progression of the disease, and the patient will subsequently die.

… There is no cure or treatment for FFI. Gene therapy is so far unsuccessful. While it is not currently possible to reverse the underlying illness, there is some evidence that treatments that focus upon the symptoms can improve quality of life. – wikipedia

[youtub=http://www.youtube.com/watch?v=tuNzubLTI_A]

Now that we know this, until a cure is found, birth control seems a wise choice for these 30 families.  I wonder how they feel about that suggestion?

I like what Judy Patterson said, “If I’d have known it was there, I would not have had children. Cause I think that’s not a gift you want to give to an unborn child.”

Ugh, there’s an even rarer non-genetic form. Only 8 people in the world have been diagnosed with it. I’d want the test. I think I’d want to prepare an “off” switch if I got this disease. Better to have a relatively peaceful exit.

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