Welcome to our JustGiving page which supports our Muscular Dystrophy UK Family Fund: Georgie's Genes.
We created Georgie's Genes in February 2016 to fundraise for, and raise awareness of, our daughter Georgie's very rare form of congenital muscular dystrophy, LMNA CMD (L-CMD).
L-CMD is caused by a mutation in the lamin A/C gene which leads to progressive muscle weakness of the skeletal, respiratory and heart muscles.
Georgie was born in 2012 and is a bright, happy, fun little girl who loves princesses, dancing and painting. She was diagnosed with L-CMD in November 2014 after she was slow to reach some of her physical milestones. Currently Georgie walks unaided for short distances but is unable to climb stairs or get herself from sitting on the floor to standing. She has regular cardiac and respiratory checks and thankfully, for now, her heart and breathing muscles remain healthy.
L-CMD is so rare that there is little knowledge about the disease progression and there are only a handful of children in the UK that have the condition. Since the diagnosis we have connected with a great support network of families around the world with the same condition and some amazing doctors and scientists dedicated to searching for treatment and ultimately a cure for this debilitating condition. We have shared Georgie's medical records as part of a natural history study to help understand how different children are affected and how their disease progresses, and in December 2015 we travelled to Barcelona to participate in an exciting new research project involving the implant of a small LinQ devise under the skin to measure heart patterns 24/7.
We firmly believe in approaching Georgie's diagnosis in a positive and proactive way and want to do all we can to help find a treatment, if not a cure, for Georgie and all the other children around the world who have received the same diagnosis.
With Muscular Dystrophy UK's help, the funds Georgie's Genes raises will be targeted specifically at research and development into lamin A/C gene mutations within the UK and around the world.