Grace's story Rett syndrome - lose skills Jeans for Genes

Grace's story

Grace is 10 and has Rett syndrome, a rare neurological genetic disorder affecting mainly females. Grace, like most girls affected, developed normally between 6 and 18 months, but then began she began to lose the skills that she had learned. Grace can’t talk but she can feed herself, and after a lifetime walking with a frame has begun to walk unaided.

Mum Gwenda was 42 when Grace was conceived. ‘I waited for years to have a child, and, after a couple of miscarriages, I remember thinking, “I’ll probably never have children now.”’

Prenatal tests came back clear and the pregnancy was completely normal. ‘Grace was born in December 2000 and I couldn’t believe I was the mother of such a lovely baby girl,’ says Gwenda. As the months went by, Gwenda enjoyed being a new mum and was delighted to see Grace reaching all the normal developmental milestones. ‘In fact, she was the first baby in my postnatal mums’ group to reach them,’ she says.

But when Grace was 17 months old, things began to change. ‘She started to scream constantly every time she was moved, whether she was in the car or in her buggy.’ Over time, she started to get more withdrawn and it was even suggested at the age of three that she might be autistic. Just before she was four, Grace lost hand function. ‘One of her favourite things was to turn the pages of a catalogue, looking at all the toys, but within days that changed,’ says Gwenda.

Unlike other children of her age, Grace didn’t learn to crawl, roll over, walk unaided or talk. Finally, when Grace was 4 ¼, Gwenda took her to Great Ormond Street Hospital where a panel of experts diagnosed Rett syndrome. ‘It was a bolt from the blue, but at least we had an answer,’ says Gwenda. Although there are a number of skills Grace hasn’t acquired like able-bodied children, she has learned to feed herself, as well as walking with a frame. And just three years ago, she started to walk unaided. ‘It happened a month before my 50th birthday,’ says Gwenda. ‘It was the best present I could have had! She really is “Amazing Grace”.’

Grace is a lot like any typical 10-year-old girl. She loves Barbie dolls and listening to ‘Mamma Mia’. She also enjoys nothing more than a good giggle. ‘She has a fantastic sense of slapstick humour,’ says her mum. ‘If you fall over in front of her, she thinks it’s hilarious.’