Fatal Familial Insomnia- A Horrible Death

insomniafatalfamilialIf you’ve never heard of fatal familial insomnia, I wouldn’t be in the least bit surprised as it is an extremely rare sleep disorder.  So rare in fact, that has only been found in about 40 families worldwide. It was first discovered in a family in Italy in the year 1974 by a doctor named Ignazio Roiter who later dubbed it to be “the worst disease in the world”.   While that comment may seem a little selfish since he was the one who introduced the disease to the world, reading more about it may just show how accurate that statement is.

This rare sleep disorder was brought to the medical community’s attention when 2 women from the same family were purported to have died from insomnia.  As far fetched as that may sound it was later discovered after studying the brain from another family member who died in the same way in 1984 that there was a particular protein in the body called prion protein which had mutated.  It was a dual mutation which meant that two proteins that are normally produced by the body are replaced by 2 different ones.  The 2 new proteins are non soluble which means the body can not break it down, the insomnia is caused by not being able to process the protein.

Unfortunately, the offspring of the person who has the disease has a 50% of acquiring it themselves.  You would think that due to this risk, having children would be out of the question, but the problem with the disease is that it doesn’t present itself until between the ages of 30 and 60 and most commonly following childbirth.  In other words, the parent doesn’t even know they have it until much later on in life, more than likely after they’ve already had kids.

The disease itself can take anywhere between 7 months to 36 months to fully progress and ultimately take the life of those who have it.  During the first stages of the disease the patient starts to undergo the first signs of insomnia.  The sleeplessness causes panic attacks, phobias and anxiety and this last for approximately 4 months. The panic attacks progress further and continue on to hallucinations for around the next 5 months.  It is at this time their symptoms are more noticeable to their family and friends.

What follows next is the total inception of the insomnia, meaning the patient is no longer able to sleep at all for any period of time.  Without sleep, the patient then suffers a complete mental breakdown that includes dementia and more likely the stage of being totally mute and/or catatonic. Not long after the last stage comes death.  Again, there is no known cure for this, it is a death due to loss of sleep and it’s horrific for the patient as well as their families.

Little is known about the disease but at least now it is recognizable so families with a history of fatal familial insomnia are aware of the possibility of passing the disease down to their children.  Because there is no cure for it and no way to tell if they have the disease until it starts, at least patients will have the knowledge so as to make a decision about having children and the risk they take.  Death by lack of sleep, perhaps Dr. Roiter wasn’t exaggerating when he said it was the “worst disease in the world.”

Similar Articles:

Share and Enjoy:
  • Facebook
  • Twitter
  • StumbleUpon
  • Google Bookmarks
  • Digg
  • del.icio.us
  • Reddit
  • NewsVine
  • RSS
  • PDF

Leave a Reply