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Last Updated: Friday, 7 October 2005, 14:05 GMT 15:05 UK
Mother supports genetic campaign
Kate O'Brien
Kate (centre) with her brother and sister Tom and Sarah
An Anglesey mother whose daughter suffers from a rare genetic disorder is backing Jeans for Genes day - a national awareness raising campaign.

One child in 33 in the UK is born with a genetic condition and Kate O'Brien from Llandegfan is among them.

Kate suffers from Rett Syndrome and cannot walk, talk or look after herself in any way.

"It would be a lovely thing if they could do something so that Rett's did not develop," said Kate's mother Ellie.

When Kate was born 13 years ago there was no inkling of any problem.

"She passed her developmental tests at eight weeks, and even at eight- months-old," said Ellie Marshall.

It would be nice to think there could be research done so they could do something to the gene
Ellie Marshall

"I was concerned but as she was my first baby I was reassured by a lot of health care professionals that things were probably going to be ok, and not to worry."

Kate was diagnosed with Rett Syndrome, a condition which mostly affects girls, when she was two.

"It means she has profound learning difficulties and physical problems as well," Ellie Marshall added.

The National Jeans for Genes Day is marking 10 years on Friday.

The idea behind it is that people wear jeans for the day instead of their usual work clothes and then make a donation to the appeal, which has raised over 20m since its launch.

Ms Marshall said research has shown that the disorder is caused when one of the genes on the x chromosome has a slight mutation.

Cinema trips

"It's a gene that switches other genes on and off, so when the child becomes about 12-months-old that gene should kick in and do things, but it doesn't," she said.

Kate has a sister Sarah, 11, and brother Tom, nine, and attends Ysgol y Bont special school in Llangefni.

She is described as a happy child who enjoys watching television and trips to the cinema, and as many family outings as possible in her wheelchair.

Her mother said she would like nothing more than to see the mysteries of the gene which causes Rett Syndrome unravelled for good.

"It would be nice to think there could be research done so they could do something to the gene," she said.

"Maybe they could even reverse the regression that the girls have and cure Rett Syndrome altogether - that would be a lovely thing if that did happen in the future."


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