Self-management of Fatal Familial Insomnia. Part 2: Case Report

Joyce Schenkein, PhD; Pasquale Montagna, MD

In This Article


The use of vitamins, narcoleptics, stimulants, sensory deprivation, exercise, light entrainment, and GH may offer some possibilities in patient management of FFI. Stimulant medication will provide a better quality of life, enabling the patient to overcome his or her stupor and fill the day with productive activity. A nocturnal rebound effect seems compatible with sleep inducement. However, stimulant medications tax the renal system and may lead to medical complications. The patient should be counseled about the possibility of such side effects when considering the potential benefit from the medication. ECT has some beneficial effects, such as immediate sleep relief, although numerous drawbacks, most notably profound memory loss in a disorder that already compromises memory.

Because this report describes the responses of a single patient, the same outcomes cannot be presumed for others. Certainly techniques that require expense, risk, or access to illegal medication are better studied in institutions under controlled conditions. It must be stressed that these approaches are exploratory and are hoped to stimulate further research.

The material presented here does not refute the prevailing belief that FFI patients ultimately die of neural degeneration. However, it may be proposed that death is hastened by the disruption of critical functions. Those functions are (1) normally subsumed by the areas, which, under positron emission tomographic (PET) scanning, demonstrate hypometabolism, and (2) are related to either insomnia or dysautonomia, specifically sympathetic overdrive (eg, a faster rate of depletion than replacement of cellular resources, greater energy expenditure, metabolic exhaustion, and a lack of restorative contribution of GH).

We suggest that strategies that attenuate sympathetic activation, promote sleep functions, and/or reduce stress may alter the time course of the disease as well as the quality of life.


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