A step closer to treatment for children like Grace | Action Medical Research

Touching Lives - October 2013

A step closer to treatment for children like Grace

Readers of Touching Lives may remember Grace, who featured in our spring 2010 edition. Grace is now 12 and was diagnosed with the serious and incurable developmental condition Rett syndrome when she was just four years old.

Rett syndrome mostly affects young girls, with symptoms not appearing until a baby is six to 18 months old. Grace was the first in her antenatal class to reach important early milestones, yet her progress slowed down when she was nine months old. Other babies started to crawl, walk and talk, but she didn’t. When Grace was nearly two her parents were told she had a chromosome defect. It was a huge shock when Grace was finally diagnosed with Rett syndrome, which meant she might never walk or speak. Children like Grace need lifelong 24-hour care and there is no cure.

Grace is a cheerful 12-year-old but life is still tough. In the last year she’s had a number of seizures during which she turns blue and falls to the floor. She is now being tested for epilepsy. As Grace grows it is getting harder for her mother to move her. Gwenda says: “The hospital staff say we are lucky Grace is still walking which was music to my ears.

I worked so hard to get her walking and will do everything in my power to keep her walking. I love Grace – she brings immeasurable pleasure but life is often very stressful and a constant challenge.”

Action funding awarded in 2009 enabled scientists to carry out laboratory work that has shown it might be possible in the future to treat children like Grace with gene therapy. Professor Bird says: “More laboratory work is needed but our work is a step towards developing a badly-needed new treatment for this devastating disorder.”

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