Fatal Familial Insomnia - Treatment

Treatment

In late 1983, Italian Neurologist/Sleep expert Dr Ignazio Roiter received a patient at the University of Bologna hospital's sleep institute. The man, known only as Silvano, decided in a rare moment of consciousness to be recorded for future studies and to have his brain harvested for research in hopes of finding a cure for future victims. As of 2012, no cure or treatment has yet been found for FFI. Gene therapy has been thus far unsuccessful. While it is not currently possible to reverse the underlying illness, there is some evidence that treatments that focus solely upon the symptoms may improve quality of life.

It has been proven that sleeping pills and barbiturates are unhelpful; on the contrary, in 74% of cases they have been shown to worsen the clinical manifestations and hasten the course of the disease.

One of the most notable cases is that of Michael Corke, a music teacher from Chicago, Illinois. He began to have trouble sleeping almost immediately after his 40th birthday in 1991; following these first signs of insomnia, his health and state of mind quickly deteriorated as his condition worsened. Eventually, sleep became completely unattainable, and he was soon admitted to the state hospital. Medical professionals, at first unsure of the nature of his illness, initially diagnosed multiple sclerosis; in a bid to provide temporary relief in the later stages of the disease, physicians induced a coma with the use of sedatives, to no avail as his brain still failed to shut down completely. Corke died in 1992 a month before his 41st birthday, by which time he had been completely sleep-deprived for six months.

One patient was able to exceed the average survival time by nearly one year with various strategies, including vitamin therapy and meditation, using different stimulants and narcoleptics and even complete sensory deprivation in an attempt to induce sleep at night and increase alertness during the day. He managed to write a book and drive hundreds of miles in this time but nonetheless, over the course of his trials, the patient succumbed to the classic four-stage progression of the illness.

In the late 2000s, a mouse model was made for FFI. These mice expressed a humanized version of the PrP protein that also contains the D178N FFI mutation. These mice appear to have progressively fewer and shorter periods of uninterrupted sleep, damage in the thalamus, and early deaths, similar to humans with FFI.