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Alison's battle to raise awareness of condition

By Carmarthen Journal  |  Posted: July 24, 2013

By Ian Lewis

THE mother of a 10-year-old boy who suffers with a rare form of autism is calling for more awareness and support for suffers and their families.

Seb Evans was diagnosed three years ago with Fragile X syndrome, which his mother Alison describes as autism with bells on and affects one in every 4,000 children.

It is a mutation of the X chromosome.

Speaking from their home in The Avenue, Carmarthen, Alison, aged 38, said: "Seb is getting on really well at school — he goes to Richmond Park School.

"He's happy and enjoys playing with friends like any other child.

"He was diagnosed when he was seven and as a result, our whole family has been affected.

"The experience has been pretty life-changing for all of us.

"Up until then we had no clear diagnosis for Seb. We knew it was autism but it was good to finally pinpoint it."

Since then, the family were tested and it was found Alison, her father Mike, who lives in Peniel, and both her sisters are carriers of the condition.

One in 259 women have the potential to be a Fragile X carrier and therefore have a 50-50 chance of passing on the condition to their baby.

Alison said: "Definitely there needs to be more awareness about Fragile X locally.

"There isn't much information of support locally, and while there must be more people with the condition in Carmarthenshire, Seb is the only one we know."

"It is considered rare compared to Down's syndrome, which affects one in every 1,000.

"Yet Fragile X is not widely known about like Down's syndrome.

"Nationally, there is the Fragile X Society which is fantastic, but locally there could be much more support through the NHS and health board."

The condition causes learning difficulties, social and communication differences and some physical issues , including reduced motor control and low muscle tone.

Alison is looking at raising the profile of Fragile X. She said she had recently contacted the family behind the recent hit documentary film Mission to Lars.

It documents the story of Tom Spicer from Devon, who wanted to meet drummer Lars Ulrich of the rock band Metallica and follows the family's journey across America with Tom to meet his idol.

"I spoke to Tom's sister Kate and told her how the story had done well to raise the awareness about the condition.

"It's uplifting and shows how passionate Tom is about the band and how he lives with the condition."

In a bid to boost awareness of Fragile X, Alison is organising a concert by the Llanspumsaint choir — which her parents are members of — and the Grampian Concert Orchestra from Aberdeen at the Halliwell Centre in Carmarthen on Friday, August 2.

Her sister Jo will be travelling from Scotland for the show as she plays oboe for the Aberdeen orchestra.

Alison said: "Hopefully, the event will raise some much-needed funds for the Fragile X Society, which provides fantastic support for affected families, but also it would be nice to raise the profile of the condition to improve understanding and possible diagnosis."

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