Daisy was born with a completely sporadic gene mutation which caused her to have the rare disease, Costello Syndrome. She was rare, especially as it was likely that she had some secondary, undiagnosed mutation which caused her to have such extreme symptoms.
We were fortunate that within 6 months of Daisy's birth a breakthrough had been made in the research around Costello Syndrome and a test was developed which confirmed her clinical diagnosis.
Very early on we made contact with the Costello Syndrome international support group and connected with families all over the world caring for children affected by the same mutation. When you have a child with such a rare disease it is so comforting to be able to reach out to other families going through the same shared experience. When the European Costello Syndrome group wanted to hold a Family Conference in the UK a grant from Jeans for Genes made that possible.
There are half a million children in the UK whose lives have been altered by genetic disease. Jeans for Genes grants help to make life a little easier for families caring for these children, by providing financial support for a whole range of needs from family conferences & get togethers, information literature for newly diagnosed families or for essential equipment so that children can get out and about.
Last week we held a local pre-launch party for my book in Wimbledon. I wanted to ensure that we also raised some awareness of the work of Jeans for Genes so we held a raffle with prizes donated by very generous local businesses and raised £300. It's a drop in the ocean when you think about the numbers of children who are affected by genetic diseases in the UK but that money could help to fund a website for a family support group or a day out for siblings or a specialist communication device. It may seem a small thing but when you feel lonely and isolated caring for a child with a genetic disease the ability to log onto an online forum and chat with another mum going through the same can make all the difference.
Today is Jeans for Genes day. Wear your jeans and make a donation, if you don't have a fundraiser going on locally you can donate via the Jeans for Genes website
|Chatting with one of Daisy's former teachers at our Jeans for Genes Book Launch Fundraiser|
|With Sam Carlisle,She spoke about Jeans for Genes & Genetic Disorders UK|
Wear jeans, change lives