Although fatal familial insomnia is a very rare disease, it can be extremely pervasive within the single families that it strikes. It is also an affliction that until the past few decades has avoided all manner of medical study and diagnosis.
It Is a Rare Disease
One of the cases that brought the rare sleep disorder to the fore began in the late 1970’s, when two Aunts in the Italian Roitier family died of a mysterious disease within a year of each other. Some research by a local doctor uncovered a centuries-old history of the sleep disorder within the Roitier family tree, but it wasn’t until another family uncle was admitted to a world-famous sleep disorder clinic in Bologna in 1984 that the Roitier’s long battle with fatal familial insomnia really came into focus.
For six-months, the 52-year-old Uncle Silvano was monitored. His behavior was one of semi, permanent sleep. After six months, though he appeared conscious, he was in fact in a state of dream-like consciousness, mimicking the behavior of his dreams. Finally, as is the case with all fatal familial insomnia victims, his body shut down and he passed away. But that’s when the real work started. The uncle’s brain was shipped immediately to a university in Ohio, where it was analyzed and found to be just like a sponge, full of holes. Further research in Los Angeles determine that this type of insomnia is indeed hereditary, and is connected to a rogue protein in the brain.
More Research Necessary
There are only a few dozen families that suffer worldwide from the disease. In 2003, the Roitier family founded a non-profit organization, the Fatal Familial Insomnia Families Association (FFIFA) to try and help fund a cure for their genealogical curse. As part of their efforts, an ongoing grassroots research project has been undertaken. They have also put together a scientific committee consisting of several academic experts in Italy and the United States.
Dateline NBC – “Family Battles Fatal Insomnia”, Januar y 14, 2005, Retrieved November 18, 2010 from http://www.msnbc.msn.com/id/6822468/ns/dateline_nbc
Fatal Familial Insomnia Families Association – Retrieved November 18, 2010 from http://www.afiff.org/new/