“At first, it felt like a bomb had exploded”.
In 2015, after visiting various paediatricians and speech and language therapists over a number of years, Sally’s children – Ashley, 12, and William, 10 – were diagnosed with Fragile X Syndrome.
Fragile X Syndrome is often misunderstood or overlooked, despite requiring only a simple blood test to diagnose.
“I had heard of Fragile X Syndrome, but knew nothing at all about it. I had never considered it as an explanation for my children’s difficulties.”
Like many parents, Sally found it difficult to understand why no health professional had ever mentioned fragile X, despite her children exhibiting specific traits such as learning disabilities, problems with speech and language, social interaction issues, and obvious physical characteristics.
“Only after I moved my son to a new school where the headmaster had a particular interest in special needs was I talked to about getting tested. The realisation that their behaviour was not something they would ‘grow out of’ was very difficult”.
Sally feels that correct diagnosis and support is important for people with fragile X throughout their lives – not forgetting their relatives who may be carriers at risk of other fragile-X associated effects, such as early menopause or movement and memory problems later in life.
“Because fragile X is a genetically inherited condition, it has wider implications for the whole family. My children’s diagnosis led to a relative who had previously unexplained ovarian failure being tested, and found to be a fragile X carrier”.
Our suite of fragile X specific information and free helpline service has been particularly useful to Sally. Wendy Bowler, our support worker for children, has helped with exploring how and when to explain fragile X to Ashley and William, their Education Health Care Plan’s, and looking for extra mathematics programmes.
As the only UK charity dedicated to supporting individuals and families through diagnosis and beyond, we are passionate about raising awareness of the syndrome amongst professionals – something Sally also speaks highly of.
“I do not believe that either of my children would to this day have been diagnosed through any professional service - this why your work is so important. The Society is the only place of support and information whenever I need it”.