Hard to spot: Friedreich’s ataxia

The patient

CATHY McLean was working as a travel agent in London between backpacking trips when her life took an unexpected and, for a long time, inexplicable turn.

“It was getting off the escalators and doing the stairs, I was just becoming clumsy,” the 42-year-old Brisbane-based IT worker says.

“It took three years after I returned to Australia to have someone actually recognise and diagnose it.”

Ms McLean has Friedreich’s ataxia (FA), a genetic illness that affects about one in every 30,000 Caucasians in the world. 

Among the catalogue of rare diseases, it is one of the more difficult to spot, as the symptoms can be non-specific.

It is usually asymptomatic up to the teenage years, although in Ms McLean’s case it did not emerge until her late 20s.

It can affect several members of one family and it can also skip several generations.