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Self-management of fatal familial insomnia. Part 2: case report.

CONTEXT
Fatal familial insomnia (FFI) is a genetically transmitted neurodegenerative prion disease that incurs great suffering and has neither a treatment nor cure. The clinical literature is devoid of management plans (other than palliative). Part 1 of this article reviews the sparse literature about FFI, including case descriptions. Part 2 describes the efforts of one patient (with the rapid-course Met-Met subtype) who contended with his devastating symptoms and improved the quality of his life.


DESIGN
Interventions were based on the premise that some symptoms may be secondary to insomnia and not a direct result of the disease itself. Strategies (derived by trial and error) were devised to induce sleep and increase alertness. Interventions included vitamin supplementation, narcoleptics, anesthesia, stimulants, sensory deprivation, exercise, light entrainment, growth hormone, and electroconvulsive therapy (ECT).


RESULTS
The patient exceeded the average survival time by nearly 1 year, and during this time (when most patients are totally incapacitated), he was able to write a book and to successfully drive hundreds of miles.


CONCLUSION
Methods to induce sleep may extend and enhance life during the disease course, although they do not prevent death. It is hoped that some of his methods will inspire further clinical studies.