Skye Wellesley Foundation

About the charity

In June 2008 Skye Wellesley, aged one, was diagnosed with Rett Syndrome. Not being aware of the existence of this condition at the time, the horrific days and weeks that followed we, her family, discovered what it means to us and to about 2,000 other families in the UK.

Rett Syndrome is caused by a sporadic genetic mutation on the MECP2 gene located on the X chromosome. This microscopic change in the structure of chromosomal proteins has an overwhelming impact on the life of the 1 girl in 15,000 statistically around the world. Most obviously, Rett chronically slows these girls neuro-development, very few Rett girls will ever speak and only half of them will walk. Behind the physical incapacity, there are also additional problems as Rett girls are prone to scoliosis, difficulties with digestion, epilepsy and fits of extreme anxiety.

We set up the charity to fund research into finding a cure for Rett. There has been very significant progress towards that goal over the last four years and I'm pleased to say that Professor Adrian Bird at Edinburgh University is at the forefront. Research can be very focused as the gene, MEPC2, that causes Rett was pinpointed ten years ago. Finding a cure for Rett would bring so much happiness to many girls who are prisoners within their own bodies, plus it will help to find a cure for other genetically related disorders. Thank you