Thursday, March 19, 2009

Help Amy and Friends find others with Cockayne Syndrome

A couple of months ago, I randomly found an article about X Factor Judge Louis Walsh getting involved with a children's charity and blogged this thinking that a bit of publicity in the blogosphere for the cause wouldn't be a bad thing.

The Charity concerned, Amy and Friends, was set up by Jayne, mother of 17 year old Amy, who suffers from Cockayne Syndrome. It's a very rare condition which causes premature aging and shortens life expectancy. To give an idea of how rare it is, they are only aware of 18 children and young people in England who currently have this condition. I spoke to Jayne yesterday and she was telling me of some of the progress that has been made in getting the NHS in England to refer newly diagnosed sufferers and their family to the charity.

Jayne has done a huge amount of work in the last 3 years since Amy was diagnosed to find other sufferers and also to bring together the medics who are working to find ways to treat CS across the world. At the moment, there is no treatment available for sufferers in the UK. Jayne has had to take Amy to Boston on several occasions. This is not only extremely expensive but also incredibly stressful for everyone concerned.

Jayne isn't aware of anyone in Scotland, Wales or Northern Ireland with the condition which is where you, dear reader, come in. Let's see if this interwebby thing can help to raise awareness of the condition and help people access both the most up to date treatment and the help and support of Jayne, Amy and their amazing bunch of friends. Please take time to read Amy's story and pass the charity's details on to anyone you know that they could help.

Jayne is amazing - her tenacity, vision and commitment have enabled her not only to care for Amy but to support others in the last few years, even organising an annual retreat where good fun for the children is combined with detailed information from the international specialists for their parents.

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