Fatal Familial Insomnia is a one of the medical mysteries that was first discovered in 1974 by Ignazio Roiter, a doctor who found out that two women from the same family both apparently died of insomnia. Further probing showed that there was a history of deaths that appeared to be unrelated. This was fast becoming one of many mysteries pertaining to the health field. In 1984, yet another family member grew sick, and as his health grew worse, it was documented, and after his death, his brain was taken to the U.S. to be analyzed further.
Finally, in the latter part of the 1990's, researchers uncovered that Fatal Familial Insomnia is a result of a prion protein mutation. FFI will result if there is methionine at codon 129 of the exact same PRNP gene allele. There have only been fifty families discovered with the mutation, and if one parent possesses the gene, their children have a 50% chance of getting the disease. There is no way to stop the inevitable total sleeplessness, and it is not treatable and always fatal. This is one of the mysteries that have doctors and scientists baffled.
The average age that the disease begins is age fifty, but can range from thirty to sixty. However, the disease typically presents itself in the latter years of life, mostly after giving birth. Usually, after the patient has had Fatal Familial Insomnia for seven to thirty six months, they die. The disease presents itself different between various people, even if they are in the same family. There are four different stages of the disease:
1. At first, the patient begins to suffer from insomnia that steadily grows worse, causing phobias, panic attacks, and paranoia to present itself. This generally continues for about four months.
2. The second stage is when hallucinations start, and panic attacks grow worse, and this goes on for about five months.
3. The third stage of this type of insomnia results in the patient not being able to sleep at all, and they lose weight very fast. This continues for about three months.
4. The last stage involves the patient suffering from dementia, and they are either mute or mostly unresponsive during the following six months, ultimately resulting in death.
Fatal Familial insomnia is one of many medical mysteries that have no cure, or treatment. Gene therapy has been tried and isn't successful. Although there is no way yet to stop the illness, there are some treatments that give those suffering from the disease a better overall quality of life, by focusing on the symptoms of the disease. It is hoped that in the next ten to fifteen years, a cure will be discovered, and that this in turn will help with finding a cure for Parkinson's and Alzheimer's.