Yvonne Williams
Yvonne's Tough Mudder 2013 - Scotland page
Fundraising for Reverse Rett
Story
Sophie is such a beautiful girl and I hope one day that they raise enough funds to find a cure for this devastating condition.
Sophie's mum Jill tells the story...
Sophie was born 22 2 05 the picture perfect baby girl born after a fantastic pregnancy and amazing birth she arrived into our world a health beautiful bundle of joy . Very chilled out calm baby but little did we know that Sophie was hiding the terrible secret of retts . You see, girls, and it is mostly girls and in some cases boys are born with this genetic condition but it doesn't really start to become transparent until the milestones that babies reach like rolling sitting standing talking etc they have real difficulty with, 1 in every 10,000 births but show no signs of the condition .
Sophie as a baby was a delight an easy going bubbly baby and toddler. She gave the most fantastic smiles the most contagious laugh and the best cuddles in the world ! We had noticed that by the time she was at the age between two and three the small changes she was learning words and forgetting them and then never saying them again. Sophie became very agitated and upset she became withdrawn distressed. I was watching the changes before my very eyes. To begin with we were told that she had speech delay not to worry, my gut instinct as Sophie's mum knew something was a miss. But nothing ever prepared me for the brutal blow after recieving blood tests back that day of being told my baby had this condition of Rett Syndrome. Imagine being told the symptoms of Rett syndrome autism cerebral palsy , Parkinson's epilepsy and anxiety disorder in one little girl .
It blew our world apart the hopes and dreams for Sophie taken away in those few words. Sophie has no spoken language she gets very upset as she's trapped in a body that she can't work properly she is able and mobile at the moment and I hope she maintains that as the majority suffer with sclerosis of the spine . She has very poor hand function so the simple tasks as to play with toys and enjoy she can't do independently. Sophie needs 24/7 care and support for her every need to help her understand the world she lives in to keep her safe and secure and will do for the rest of her life .
The list of how retts has affected Sophies life is endless and frightening and I hold on to the hopes and dreams that one day there maybe a cure and to give back Sophie the life she deserves to live . Sophie is the most infectious person I know, she's got the most contagious laugh, she can light up a room and her eyes speak volumes to me and just melt your heart .
Rett syndrome is and has been reversed in mice in a lab in Edinburgh by a geneticist Dr Adrian bird. This and many other possibilities as given us real hope genuine hope that one day Retts is cured - It will be cured, its a matter of time.
Rett syndrome research trust uk have that vision they are driven to help reach that ultimate goal, we need hope but hope alone won't get us there we need funding .
The government don't make any contridutions or give any grantts into research so we purely depend on fund raising contributions.
Scientists have predicted that Rett syndrome will be one of the very first genetic conditions that they will be able to cure by switching on the faulted gene for the body to then revert back to normality, giving girls like Sophie living with this life sentence the chance to live free again and to live life they so deserve.
I want to say a huge thank you from the bottom of my heart for all the training you've been doing for mudder and doing it in honour of Sophie and for supporting Rett syndrome research trust uk and getting us closer to a cure for our beautiful daughter Sophie x