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.
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.
“He was referred to us with some snoring issues earlier in the year, and had a sleep study which was fairly unremarkable,” Dr McMahon told AusDoc.
Nasal surgery to address the symptoms was similarly unremarkable, yet the patient’s wife noticed her husband becoming confused and disoriented.
