Mcrae Family: Multigenerational Story
Rosemarie McRae shared her family’s story of Fragile X with mamamia.com, to help raise awareness and understanding of Fragile X in advance of FX Awareness Day, July 22nd, in 2017. This is her story:
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. To see Rosemarie in action in her days as a helicopter pilot, see Whirly Girl #530 on youtube
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–associated Tremor Ataxia syndrome (known as FXTAS), a neurological condition that in later life can affect some men and women who are carriers of the faulty Fragile X gene.
With the onset of FXTAS, Rosemarie developed tremors and shakes, characteristic of FXTAS. 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 also experienced early menopause around age 40, a further risk associated with being a Fragile X carrier, although unaware of the cause. 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, like many others, was unaware 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.
The McRae family story is typical of the pattern of inheritance with Fragile X syndrome in many families. 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, in her late 60’s, 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 common for women who are Fragile X carriers.
Nyleta and Shelley have both served on the Board of Fragile X Association of Australia. They are both very active in raising awareness of Fragile X, and in supporting others in the Fragile X community. Nyleta arranges an annual Fragile X Community Day, for the public and Fragile X families, coinciding with Fragile X Awareness Day in July to raise awareness of Fragile X and to fundraise for Fragile X Association of Australia.