THE family of a Dorset teenager is overjoyed to hear that researchers have started a pioneering project which could both extend his life significantly and protect his mother from breast cancer.
Spencer Owens, aged 16, from Wool, was three-years-old when he was diagnosed with Ataxia-Telangiectasia (A-T) a little-known genetic condition, which causes severe disability in children and significantly shortens their lives.
There is currently no effective treatment. On top of this, Spencer’s diagnosis means that his mother Jennifer, as a carrier of the gene, is eight times more at risk of developing breast cancer than most women.
Now a team of scientists at the Gurdon Institute, an eminent Cambridge laboratory, is planning to use state-of-the-art genetic technology to test a completely new approach to treating A-T and hereditary breast cancer.
This technique, known as synthetic viability, has already shown promising results in the laboratory, with conditions related to A-T. The research is being jointly funded by the A-T Society and The Thomas Appeal.
Jennifer says: “When Spencer was diagnosed our lives came crashing down around us. Instead of watching him learn new skills and become more independent we faced the prospect of seeing him become more and more disabled – and there was nothing we could do. Discovering I had a high risk of getting breast cancer only made things worse.
“The A-T Society has been a lifeline for us. It helped us understand the reality of the condition and be able to move forward. “Now, this project which is partly funded by the Thomas Appeal means there is a light at the end of the tunnel and real hope for Spencer and other children like him.”
William Davis, chief executive of the A-T Society said: “Research into rare conditions like A-T all too often gets left to one side by researchers and drugs companies. Our researchers working on the condition bring badly-needed hope to people with A-T and their families.”
The total budget for this project is £50,000 and the charity and the A-T Society has a further six medical research projects waiting for support, all of which have potential to improve quality of life for children with A-T or lead to a cure.
To find out how you can help visit virginmoney.giving.com/ATResearchFund.
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