My husband Rob and I live on a farm in Western Australia, a couple of hours by car from Perth. Having grown up in this environment I felt I was a strong and independent person, accustomed to the ups and downs of life on the land and a life lead in some degree of isolation before I ever heard the words Fragile X syndrome.
We were very happy when our first child, Adam, came along. However, it soon became apparent that Adam was not an easy child, he was a whirlwind, much more so than your average little boy. By the age of three it was apparent that he was failing to meet his basic milestones and socialise in a typical little boy way.
I knew instinctively that something wasn’t quite right and so I decided to take him to see a developmental paediatrician when he was three and a half years old. Along with other testing, a blood test for Fragile X syndrome was done and the results were positive.
I had never heard of Fragile X before and nor had anybody else in my family. Under the advice of genetic counselling the rest of the family was tested and the results were shocking. I was a carrier and three of my siblings were too. My mother and two of her siblings were also carriers.
By this stage I also had a little girl called Kendall who was tested and was found positive with full mutation Fragile X. Other members of my extended family underwent testing to discover their status and what options were available for them in the future.
Through preventative testing, some of my brothers and sisters have since been able to have unaffected children, and all of those affected in the family have been recognised and able to benefit from early interventions.
From the beginning we could see clearly that our children would have special needs and would require early therapies and help, hard to reach in Perth, let alone in rural WA. With this in mind I set up camp in Perth where I persistently sourced and sought the help of speech pathologists, occupational therapists, special educators and others.
The early years were an exhausting, emotional and very challenging time. Coming to terms with the diagnosis, understanding it and then forming a plan for the future with little or no support from medical and educational professionals due to lack of understanding, experience and awareness of Fragile X, at times felt like an insurmountable hurdle.
The kids are older now, 16 and 14 and are facing a completely different, yet no less challenging, set of hurdles.
Recently I took them both to a mobile clinic run by The Fragile X Association in Perth and the input from that was invaluable to us, I look forward to implementing the strategies and ideas I got from this so that they will be better equipped to cope with world.
My journey with Fragile X and seeking help and treatment for my children over the years has helped me understand my own subtle traits of carrier status.
By nature I am an organised, quite analytical person and found it hard to be always living and trying to survive in the chaos created by Adams severe Fragile X and associated ADHD behaviours. When I look back on my life I can see how being a carrier has affected me throughout the years socially and how some of my behaviours fit in with being a carrier of Fragile X.
My hopes and fears for my children are many, they are both beautiful people but with very different needs that will lead to very different lives due to their levels of disability.
Kendall may have a more difficult path just because her disability is less obvious. As a high functioning female with Fragile X, I know that Kendall will be able to do many of the things her friends will do and experience many of the things that any young woman can expect. But she is also aware that there will be a gap which will widen as she grows up. Her immaturity and her learning and social difficulties may become harder to manage but I am planning to be there as a support for her for as long as I can and I have all the same hopes and dreams for her future as any mother has for their daughter.
Adam is more severely affected as are most fully affected males. He seems happy in his life, less anxious and less caring and perhaps unaware of other people’s reactions to him. In this he is the lucky one although his disability is much higher. In a way his future is easier to map out and my hope for him is that he will be cared for and all of his needs will be provided for as they are now.