“Fragile X individuals can make their mark in the world”.
Sarah’s daughter, Lucie, was diagnosed with Fragile X Syndrome in the summer of 1994. Dr Jeremy Turk - now one of our advisors, and a leading child psychologist with a special interest in fragile X – provided her with information about the services and support we offer, through St George’s Hospital.
“The first ten years were challenging to say the least. Lucie didn’t engage with toys and I started to research what could be wrong. It culminated when she started school and we were subjected to suspected abuse claims as her behaviour was so challenging. In Lucie’s words, fragile X is ‘like the wires have crossed in your brain’”.
As the fragile X gene was identified in 1991 – only three years before Lucie’s diagnosis – she was initially diagnosed with Aspergers. However, as more information became available, the genetics clinic concluded Lucie had fragile X. This led to Sarah being confirmed as a carrier, having had the gene passed to her through her father.
Lucie and Sarah in 1991
Fragile X Syndrome is often misunderstood or overlooked, despite requiring only a simple blood test to diagnose. The correct diagnosis and support is important for people throughout their lives – in Sarah’s case, it meant she was able to get Lucie a statement which ensured she received the help and support she needed at school.
Sarah and her late father found the information and support we provide through our newsletters and support workers invaluable over the years.
“The Society has been a godsend as even the professionals I have encountered had no awareness of the condition – a lifeline is the only way to describe you”.
“Lucie is now 31 and in her mid 20s went to University. She gained a respectable degree of which I am so proud. Lucie also lives independently, and every day I am more proud of her as she discovers she is capable of doing things she never thought she could do. All I wish for now is that she gets a rewarding role in a caring company”.