Rett syndrome is the commonest genetic cause of profound learning and physical disability in girls.It also affects a small number of boys and as it occurs sporadically can affect anyone. Most people with Rett syndrome are profoundly and multiply disabled and totally dependant on others throughout their lives

Babies with Rett syndrome appear normal at birth and will often have a few words or phrases when their development stops and they go through regression.They loose their words, functional handuse and mobility. The severity of the condition does vary with some girls remaining mobile. My daughter, Emma is on the mild end of the spectrum. She can walk (almost run) but she has difficulty with steps and uneven surfaces and has no concept of issues like road safety. Emma has never spoken. She cannot feed herself, dress herself or use the toilet. It is difficult keeping her occupied. She needs constant supervision and gets very frustrated when we don't understand what she wants to do.

Despite her problems she has a distinct personality and sense of humour and does enjoy life. She loves music, food, being out and about and the company of others.

 

RSAUK provides support and information to families, carers and professionals. Members support each other through our contact support network. We have a website, www.rettsyndrome.org.uk, facebook page and quarterly magazine. Our Family Support Officer provides telephone advice and we run an annual family weekend for people to meet and share experiences with other families and professionals. We also fund research. We do not receive any government funding and so are reliant on the fundraising efforts of our members,their families and contacts.

 

Rett syndrome was first recognised in 1966 by Professor Rett who recognised the same behaviours in two girls sat in his clinic waiting room.It went largely unnoticed until the 1980s when it was given a name and  RSAUK (along with other support groups around the world) was founded. It was not until 1999 that it was discovered that many of the girls had a mutation on the MeCP2 gene of the X chromosome.  The genetics is complex but their is a great deal of interest amongst the scientific community world wide and it is felt that a cure will be found. We have been encouraged by Professor Adrian Bird in Edinburgh who artificially gave Rett syndrome to mice and then reversed it. The mice were indistinguishable from normal mice and he was surprised to find that it did not matter how old the mice were when the reversal took place. This has offered us the hope that this condition may be curable and the race is on to find the cure.

RSAUK is celebrating its 25th year and we are using this to launch our 25th Anniversary Appeal. Personally, I am contributing to this appeal by running the London Marathon. This is quite a challenge having shyed away from any form of exercise for years but I am in training and confident of completing the distance on the day.