Touching Lives - March 2010
Hope for girls like Grace
Grace Watson had often been the first baby from her mum’s antenatal class to reach those all-important early milestones, but between nine and 12 months things began to change. Other babies started crawling, walking and talking but Grace didn’t. Although nobody knew it at the time, she was showing the signs of Rett syndrome.
Her mum, Gwenda, was not too worried to start with. Her GP reassured her there were many reasons why Grace might take longer to do some things. But as time went on, suspicion began to grow that something more serious was affecting Grace.
Just before her daughter’s second birthday, Gwenda was told that Grace had a chromosome defect and doctors began a long series of tests. Eventually she was referred to Great Ormond Street Children’s Hospital, where experts concluded she had Rett syndrome – a condition usually caused by mutations, or faults, in a gene called MeCP2 on the X chromosome, that predominately affects girls.
A final test confirmed that Grace, then four-years-old, had the mutated gene. Little girls with Rett syndrome have profound and multiple physical and learning disabilities, and are totally dependent on others for their care. They struggle with communication and mobility, while other serious problems can include seizures, chronic spinal curvature and breathing and feeding difficulties.
For Gwenda the diagnosis was a huge shock. “All the information I was given was so dire; the worst case scenarios so awful. I had thought that one day she would speak and walk on her own and suddenly I was told it was very unlikely she’d ever speak or walk unaided. But the thing that upset me most was when they said she would undoubtedly need to go into residential care when she’s older.”
Babies with Rett syndrome seem to develop normally – they may even learn to walk or say their first words – until there is period of slowing down or stagnation between six and 18 months. A devastating regression follows and the child begins to lose previously learned skills and control of movement, especially purposeful use of their hands.
For Grace the loss of skills had been gradual and she seemed to learn new things during her period of regression, making her condition less obvious. For a while she was still able to play with her toys and happily flick through the pages of a book – things she eventually stopped doing – and she learnt to walk using a frame. But other tell-tale signs had been there. “As a toddler she’d go through phases of sitting and giggling hysterically, before moving onto periods of screaming and crying inconsolably,” says Gwenda. “Later she started doing the stereotypical repetitive hand movements, although this didn’t start until she was three and it wasn’t the most common one, which is hand-wringing or clapping. She rubs her thumbs, which leaves calluses, and used to rub them red raw.”
Now nine, Grace cannot speak and communicates by eyepointing, touch or crying. She has very rigid, awkward posture and curvature of the spine, but has learned to walk on her own, taking her first solo steps just two years ago.
“Other families with children with Rett syndrome are often amazed to see her walking,” says Gwenda. “She needs help to stand, sit and climb stairs, but we are working on these. And she doesn’t have any saving reflex, so if she loses her balance or gets knocked, she easily falls over and lands flat on her face. “I do everything for her really. I wash her, dress her and brush her teeth but she can feed herself with a spoon if the food is cut up. Sometimes she will manage to pick her cup up to drink but ten minutes later she can’t physically organise her body to do it. She will seem to learn things, then not do them for a while, then it might come back. They say that once children come out of regression they can learn new things if they can physically do it. It’s just a case of keep trying. “While I have come to terms with Grace’s diagnosis, there are still times that I grieve for the child I thought I had. I had looked forward to my little girl doing ballet, cooking with me and lots of other things. “We get stared at a lot, especially by other children who don’t understand Grace’s difficulties because she doesn’t really look disabled. Life can be very difficult and although she is at the mild end of the Rett spectrum, we don’t know what the future holds. It is daunting but I try to live for today and appreciate the things Grace can do.”
This project, led by Professor Adrian Bird from the University of Edinburgh, has been supported by a generous grant from The R S Macdonald Charitable Trust