Have you ever heard of Rett Syndrome?

Nor had we until May 2014 when our daughter Abbie Rose was diagnosed with Rett.

Abbie Rose has a very rare genetic disorder that occurs in 1 in 12,000 female births, and very rarely, in male births. The genetic mutation means a protein essential for the brain to send messages to other parts of the body doesn’t function properly. Initially affected children develop normally until they go through a period of regression and lose skills already learnt, e.g. the ability to walk, talk, purposefully use their hands, to eat properly, and cease to develop further.

Abbie first showed tell-tale signs that something was not quite right from 6 months onwards as she wasn’t meeting her development milestones. When Abbie began to lose purposeful use of her hands and develop the repetitive & involuntary ‘hand wringing and mouthing’ characteristic of Rett, tests confirmed the news we were dreading.

Abbie cannot walk, talk or feed herself and will need 24-hour care for the rest of her life. The symptoms of Rett make a normal and even most ‘adaptive’ means of communication impossible.

One very reassuring thing we have learnt is that Rett girls are not brain damaged. They have the same mental ability as their peers – it is their body failing them and they are ‘locked in’ – they simply cannot express themselves.

However, one thing that they can control is eye movement. Eye Gaze technology with specialist software now means communication is possible. The technology is expensive and NHS funding is not guaranteed.

To give Abbie the best chance in life and the ability to communicate with her family and the world around her Abbie’s Trust is organising various fund raising events to enable us to access this new technology.