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
