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Grace's story

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Grace's story

Rett syndrome

After Grace was born she started reaching all the important milestones, but things began to change from nine months. 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.

The condition is usually caused by mutations, or faults, in a gene called MeCP2 on the X chromosome, that predominately affects girls. Babies with Rett syndrome seem to develop normally 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.

Grace has multiple physical and learning disabilities, and is totally dependent on others for her care. She cannot speak and communicates by eye-pointing, touch or crying. She has a very rigid, awkward posture and curvature of the spine, although unlike some others with the condition, she has learned to walk on her own.

Grace and her Mum, Gwenda
Grace and her Mum, Gwenda

Sadly, there is no cure for Rett syndrome. In 2007, researchers funded by Action Medical Research made the breakthrough discovery that a form of genetic manipulation can reverse symptoms in the laboratory setting. Their work is a step towards developing a badly needed new treatment for this devastating disorder, although many technical hurdles remain, and more laboratory work is needed.

Watch Grace with mum Gwenda on this video

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