'Fragile X': The rare syndrome that has changed the McRae family.

Brisbane-based Rosemarie McRae had an incredible career as a helicopter pilot for 24 years. She fought discrimination against women joining the profession, she filmed for movies, conducted hair-raising search and rescue missions, received a Heroism Award for Saving Lives at Sea and an appreciation award from the Civil Aviation Authority for rescuing four fishermen stranded in a cyclone.

Rosemarie was president of the Helicopter Association of Australia, mustered cattle in the Northern Territory and owned and operated her own helicopter charter business taking visitors to remote locations that are inaccessible by land. Her biography, Whirly Girl 530, was published in 2004.

But around 1992, at around age 40, all that changed. She started to become fearful of flying over water despite years of experience and ‘not being scared of anything’. And in 2012, at the age of 60, Rosemarie was diagnosed with Fragile X Tremor Ataxia Syndrome, a condition that can affect men and women who are carriers of the faulty Fragile X gene.

With the onset of FXTAS, as it is more conveniently called, Rosemarie developed the characteristic tremors and shakes. Her high level functioning had declined to the point where she was having trouble doing simple things for herself, and she had increasing anxiety which is commonly associated with the condition. Rosemarie had early menopause around age 40, a further risk associated with being a Fragile X carrier, and by the time she was 62, the progression of FXTAS meant that she couldn’t look after herself any more.

The problem was that Rosemarie wasn’t aware that she was a carrier of the faulty Fragile X gene, nor was she aware that she had passed the gene onto her two daughters, Nyleta and Shelley. It was only when one of her grandchildren was diagnosed with Fragile X syndrome, characterised by intellectual disability, speech delay, autism and problems managing sensory information, that genetic testing of the entire family identified Rosemarie and in turn both daughters as carriers of this serious yet frequently under-diagnosed condition.

Unfortunately, the McRae family story is typical of the pattern of inheritance with Fragile X syndrome. It affects multiple generations within a family and for every new diagnosis of Fragile X syndrome, an average of five additional family members are identified as being a carrier of the condition.

Nowadays, Rosemarie, aged 64, lives in full time care in Brisbane, and has tremors, loss of muscle mass, short term memory loss, confusion and problems with organisation and decision making.

Her daughter Shelley, who completed a PhD in biochemistry, is now a single mum raising three children, a son with autism, daughter with Fragile X syndrome and anxiety, and younger son with both Fragile X syndrome and autism. Shelley has struggled with anxiety and depression all her life. Rosemarie’s other daughter Nyleta, an IT consultant who lived and worked in Canada and the USA, has three children, two of whom are affected by Fragile X syndrome. Nyleta had early menopause (like her mother Rosemarie) and also suffers from anxiety and depression, which are very common for women who are Fragile X carriers.

Approximately one in 170 women and one in 800 men carry the Fragile X gene - that means that they could go onto have a child with full mutation Fragile X syndrome. The McRae family is sharing their story to help raise awareness and understanding of Fragile X in advance of Fragile X Awareness Day on 22nd July.

Fragile X Association of Australia is a registered charity providing support to families across Australia who are impacted by Fragile X.  Donations, fundraising and membership subscriptions fund what we do.  You can help us to support the Fragile X community by making a tax-deductible donation:  https://www.givenow.com.au/fragilex