All of us experience the odd bad night of sleep. Some of us have had a dose of insomnia during our lives. Or maybe you’re suffering from chronic insomnia right now. Whatever your sleep problems may be, you can be very glad you’re not suffering from Fatal Familial Insomnia.

What is Fatal Familial Insomnia

Fatal Familial Insomnia, also known as Sporadic Fatal Insomnia, is a very rare genetic disorder recorded in only 50 families worldwide.

It was first detected in 1974 by Dr Ignazio Roiter from Italy. He found two women who had supposedly died of insomnia. Looking in their family records, he noticed that other members of their family had died in the same way. Another member of the family was found to be suffering with the very same symptoms. Scientists monitored their condition and when they died, their brain was flown to America for further investigation.

The condition was found to be caused by a faulty gene. It affects the part of the brain responsible for sleep, the thalamus. The job of the thalamus is to slow down your body’s signal transfers to allow us to reach the unconscious state we know as sleep. The mutated gene prevents this from happening and so sleep cannot occur.

The faulty gene is a dominant. This means if one parent has the gene, their children have a 50% chance of having the disease sometime in their lives. The average age in which people suffer from the disease is 49, so parents may not know they have the disease before passing it to their children.

The same gene is also thought to be responsible for the human version of BSE or Mad Cow Disease and it shows many of the same qualities. Rats fed brain tissue from infected individuals begin showing signs of the disease. The disease has also been found in a man with a family who had no previous record of the disease. This leads scientists to thinking the disease previously thought to be only genetic may also be somewhat infectious.

Symptoms of Fatal Familial Insomnia

Fatal Familial Insomnia is very slow in its progression. At first, people start having problems falling to sleep. This may also be accompanied with muscle spasms, twitches and stiffness. This develops over time until they find themselves unable to fall asleep at all.

The disease develops over 4 stages:

Stage 1 – With the onset of sleep deprivation, patients suffer from panic attacks, develop strange phobias and begin suffering from paranoia. This stage develops over 4 months.

Stage 2 – Hallucinations start taking place, followed by panic, sweating and agitation. This lasts for around 5 months.

Stage 3 – Patients are now suffering from total insomnia and the terrible effects of sleep deprivation. They start rapidly loosing weight, suffer from incontinence and begin looking much older. This lasts for 3 months.

Stage 4 – The final stage of Fatal Familial Insomnia. Patients suffer from dementia from the complete lack of sleep eventually becoming mute. Finally, patients face the inevitable, sudden death from complete sleep deprivation. This stage can last for 6 months.

Treatment of Fatal Familial Insomnia

Presently, Fatal Familial Insomnia is incurable. Doctors are unable to make patients sleep. Sleeping pills and other traditional sleeping aids are found to actually make things worse.

Hope for the future rests with gene therapy. This involves inserting the correct gene into the patients turning the faulty gene into what it should be. To do this, doctors must first detect the disease before it has developed, which could be just as difficult.

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Fatal Familial Insomnia is a truly horrific disease taking its victims through absolute hell before they reach their inevitable end. Sleep deprivation is actually a method of torture used by the military in many countries around the world, and you can understand why. The disease highlights our dependence for sleep and the devastating impact it can have if we don’t get enough of it.