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Fatal Familial Insomnia

The Sleep Curse!

Fatal familial insomnia is a rare genetic disease that can be inherited. The disease was first discovered by DR Ignazio Roiter in 1974 in Italy.

He discovered that two women had died of insomnia in the same family. After their deaths another family member fell ill in 1984 with similar symptoms, when he died his brain was rushed through customs and flown to the US for further research.

It was in the 1990s that it was discovered that the disease thrives by the degeneration of a certain part of the brain, the thalamus. The patient loses the ability to fall asleep and eventually dies. In families with this genetic disease there is a 50% chance that the offspring will inherit it if one of the parents is a carrier.

Unlike many other fatal genetic conditions FFI does not appear until the victim is middle aged. The disease usually presents itself between the ages of 30-60, with an average of 50. What makes this disease terrible is the patients still have their cognitive abilities and know that they are going to die and can talk and write freely for a while up until death.

The symptoms of FFI are similar to certain diseases like encephalitis, end-stage alcoholism, and dementia. But FFI has one symptom that the rest don’t and that is the complete inability to sleep. EEGs of FFI patients' show that their brain wave patterns go up and down wildly.  This degeneration usually spans  7 to 36 months and occurs in four stages:

  1. The Patient develops progressive insomnia, which later results in paranoia, and phobias. This phase last about 4 months.
  2. Hallucinations and panic attacks set in and continue for about five months
  3. Next the patient completely looses the ability to sleep and begins to lose weight. This last for about 3 months.
  4. Finally dementia, in this stage the patient remains mute and looses the ability to speak and then eventually dies.

FFI is now acclaimed to be the worst disease in the world and so far only 29 families have ever been diagnosed with it. This disease has baffled medical researchers for years. But what really causes FFI?

FFI is caused by a genetic mutation in a protein called a prion protein in the brain tissue. The malignant proteins attack the healthy ones, and the healthy in return attack other proteins in the brain. This gives rise a to a full scale civil war in the protein colony.

 The affected area in the brain is the area responsible for sleep, the thalamus. The thalamus is the communication bridge from the brain to the body and the body to the brain. Without the thalamus, signals cannot be sent between the body and the brain. In the state of sleep the thalamus does not transfer much signals, and this allows the body go into sleep mode.

With fatal familial insomnia the thalamus does not work properly, and thus the patient is permanently denied sleep. Certain functions in the body like sleep, blood pressure, heart rate, body core temperature and hormone flow are all controlled by the  thalamus and therefore cannot work properly too.

The immune system of the body cannot do anything since it cannot not see it’s proteins as harmful and attack them. During research on the brains of dead victims, their thalamus is full of holes, they are totally destroyed. However other parts of the brain stay intact and the patient remains able to think and comprehend the world, even as the malignant prions destroy that part of the brain.

The lack of sleep leads to other problems like dementia, hallucinations and the inability to produce tears or feel pain as well as poor reflexes. The patient is locked in a world in between wakefulness and sleep.

There is no known treatment or cure for FFI and sleeping pills have no effect. There are certain other diseases also caused by malignant prions some even transmissible, they include: kuru, bovine spongiform encephalopathy (Mad Cow Disease) and Creutzfeldt-Jakob disease (CJD). Researchers are hoping that if a cure can be found for FFI, that just maybe the same can be applied to these too.