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Family cling to genetic research hope for 'locked-in' tot

By Caroline McMorran

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For first-time parents Alvin and Stephanie Wood, it was a terrifying and deeply worrying time.

Their nearly one-year-old daughter Emilia had changed before their eyes from a child who had seemingly been progressing normally to someone they did not recognise.

“She had been a happy kid, giggling and laughing, but suddenly she withdrew from the world around her,” said Stephanie.

“She just shut down completely. She wouldn’t look at us and lost all interest in her toys. That was the scariest bit for me. “

Their GP referred the family, from Dornoch, to a paediatrician but it was to be another year before medics finally worked out what was wrong with Emilia following a barrage of tests.

She has Rett syndrome - a rare, non-inherited neurological disorder. The condition, which predominantly affects girls, is caused by mutations, or faults in a gene called Mecp2.

Nearly one in 12,000 babies born each year in the UK have Rett syndrome, which causes severe physical impairment.

It was a devastating diagnosis for Alvin, a director at Treecraft Woodwork and Stephanie who also works with the bespoke joinery firm.

Stephanie said: “It was a grieving process. You grieve for the child you thought you had. Then there is an acceptance of this as your new normal. You have to look to the future with that in mind.”

Alvin added: “The best description I have heard of the illness is that it is as like “epilepsy, cerebral palsy, Parkinson’s and autism all rolled into one. It is horrible, just horrible.”

Now aged three, Emilia has lost the skills she was previously developing. She cannot walk or talk, has limited use of her hands and can only eat soft food.

But her parents are grateful that she has regained her previous engaging personality.

“Although she went through that regression, she came back to us,” said Stephanie. “She is very cheeky and has a real sense of humour. She loves Peppa Pig and snack time and she knows how to get her way. She is very affectionate, very loving.”

Alvin explained: “People with Rett syndrome are not mentally impaired.

“They are actually very smart, it is just they are locked in and cannot communicate.”

The Woods do not know what the future holds for Emilia, who attends Ankerville nursery in Tain. Some of those with Rett syndrome live into their 50s but other die much younger.

But they are taking heart from research undertaken by scientists at the University of Edinburgh which has revolutionised understanding of the disease and shown symptoms can be reversed in mice.

Professor Adrian Bird, director of the Wellcome Trust Centre for Cell Biology at Edinburgh told a scientific publication: “The results are gratifyingly clear and must give hope to those who are affected by this distressing disorder.”

For the Woods, the research is the “one hope that we have”.

Technological advances such as sophisticated “eye-gaze” trackers are also helping to “unlock” those affected by the disease.

The couple and their wider family and friends are strong supporters of Reverse Rett, a small charity set up by affected families to fundraise and raise awareness of the disease.

Stephanie’s cousin undertook a sky dive in New Zealand in aid of the charity and her dad Bill Inglis, of Glasgow, has completed the Kiltwalk. And last month a group of friends from Dornoch completed the Etape Loch Ness, raising an amazing £2458 to be split between Reverse Rett – in honour of Emilia – and Macmillan Cancer Support.

Alvin said: “Before Emilia was diagnosed, we were living in a bubble - we had never heard of Rett syndrome. Ninety-nine per cent of the population are oblivious to it.

“But there are so many children out there with conditions like Emilia.”

n For more information on the syndrome visit: www.reverserett.co.uk. Follow Emilia’s on her Facebook page All About Emilia.

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