Touching Lives - September 2016
A new genetic test for children like Grace
It took more than three years and countless blood tests before Grace was finally diagnosed with Rett syndrome. Action funding has helped doctors develop a new genetic test that could in future spare families from long, extensive testing.
As a baby Grace had been quick to reach early milestones but around the time of her first birthday her progress seemed to slow. Just before she turned two, her mum, Gwenda, was told that Grace had a chromosome defect. But doctors didn’t know what that defect was or what it meant for her future and so began a long series of tests.
“It was very traumatic,” recalls Gwenda. “I just wanted some answers. It was horrendous putting Grace through all the blood tests. It was always difficult getting blood from her and she would kick and scream.”
It took until Grace was four-and-a-quarter for the family to finally get a diagnosis of Rett syndrome – a condition caused by faults in a specific gene, which causes multiple physical and learning disabilities.
A new genetic test, developed with Action funding of almost £125,000, aims to give families like Grace’s a quicker, accurate diagnosis – ending the ‘diagnostic odyssey’ they face.
Developed by Professor Jill Clayton-Smith and her team at the University of Manchester, this single test can detect changes in around 60 different genes at once, making it much easier for children than testing genes individually, as well as cheaper.
As part of this research the test was offered to 150 children, young people and adults with severe but unexplained learning disabilities and seizures. This resulted in almost a quarter of these families being given a firm diagnosis for the first time in their lives.
This work has also improved understanding of what sort of symptoms children are likely to experience if they have a particular genetic change. This is important for making decisions about treatment and predicting what the future may hold.