Many people may have never heard of this rare gene brain disease called fatal familial insomnia discovered in the early 90's. It was discovered from personal concern that Italian doctor Ignazio Roiter brought in a family with this deadly gene. Dr. Ignazio Roiter is a specialist in internal medicine and endocrinology at Treviso Hospital. He was puzzled as his wife 's family died every three years. Later he bought to learn more and traced the existence of FFI back to the 1700s. Since the 1700's my wife's ancestor has died out with fatal familial insomnia. The common major symptoms of these relatives were insomnia for several months before they died.
Rare insomnia
Fatal familial insomnia (FFI) comes from its name. FFI is a genetic disease in which 40 families worldwide suffer as of 2006. Members of these families have the opportunity to inherit genes 50/50. It usually appears in a middle-aged career. Since then, I experience nonstop insomnia for several months until death.
Rare protein mutation
Since very recent discovery, there are many unknown things about this disease. Some experts agree with the theory that they are insomnia that kills patients. Eventually, FFI is caused by rare protein mutations called prions that occur in the thalamus of the gene carrier. The thalamus is part of the brain that controls sleep, which is the cause of insomnia. I think these experts are due to the replication of the prion causing death. Other prion diseases include rabies, cool, scrapie, Gerstmann-Strussler-Scheinker and Creutzfeldt-Jakob disease (CJD).
Fatal familial insomnia shares symptoms of chronic sleep deprivation, including muscle spasms, hallucinations, blurred vision, dizziness, paranoia and dementia. Nonetheless, the FFI stands out because all the victims of FFI experience months of no sleep at all.
Rare disease
Fatal familial insomnia is described as a rare disease rarely by the rare disease center of the National Institutes of Health. It is not that many people know. Not even a doctor. In more recent cases, women were diagnosed with FFI just prior to death. Her child knew that they could become a carrier of a fatal gene. This woman has grandchild who may already have a deadly gene.
processing
Unfortunately, fatal familial insomnia still has no cure. The only thing a doctor can do right now is to improve the quality of life for patients suffering from this disease. Gene therapy has not been successful so far. In fact, researchers must learn more about the disease and continue exploring for healing.
Families suffering from FFI wish that the time will come when their children do not have to suffer the same fate as their ancestors.
