Fatal Familial Insomnia

Fatal familial insomnia is a very rare disease of the brain which causes the fatal inability to sleep. Caused by a mutation on the PrPc gene and primarily inherited (offspring of a patient with FFI stand a 50% chance of developing it themselves), it can also develop spontaneously in otherwise healthy adults (‘sporadic fatal insomnia’) – though only a handful of cases of sporadic FFI have ever been diagnosed. The condition has no known cure and causes gradually worsening insomnia and the ability to progress past the stage 1 slow wave sleep. Its existence highlights the role and the importance of sleep in health.

Symptoms

The onset of FFI can be anywhere between 16-60 but is more likely in older patients. The full course of the condition generally lasts between 7 to 36 months ending with the death of the patient. During this time the patient will start by suffering increasingly severe insomnia which may also trigger panic attacks, anxiety and other conditions. This tends to last around four months before hallucinations begin lasting anywhere up to five months. During this time the patient will suffer severe weight loss and may develop the symptoms of dementia – unresponsiveness, confusion and personality changes. Other symptoms include sweating, impotence, menopause for women, high blood pressure and constipation.

Treatment

Sadly there is no known cure or effective treatment for FFI. Though research is being carried out into the area of gene therapy, it has yet to yield any helpful results. Sleeping pills have been shown to be ineffective and to potentially even worsen the condition. For one of the most high profile patients, Michael Cork, doctors attempted to induce coma but found that his brain still did not shut down.

However treatment and management of the symptoms may help to give the individuals a better quality of life and some success has been found in using vitamin therapy, medication, sensory deprivation and stimulants during the day.

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