How a ‘pretty unusual’ set of symptoms led doctors to Australia’s first case of fatal familial insomnia

Studies have only uncovered around 200 people in the world with the genetic mutation that causes this condition.
Rachel Fieldhouse
Dr Marcus McMahon.

A 32-year-old with a snoring problem turned out to be a rare and tragic example of fatal familial insomnia, the first case seen in Australia.

It was Melbourne sleep physician Dr Marcus McMahon who made the diagnosis, having first seen the patient in 2019.