Thank youI can't describe how beautiful it is I was in tears (happy tears of course!) I can't thank you all, enough for taking the time to put it all together :)
Thank you from the bottom of our hearts for doing such a kind thing for my daughter you will never know how much it means to us, your acts of kindness that will make such a huge difference in this very difficult time!
Thank you, thank you, thank you!
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BiographyElla was born on the 3rd January 2007 after a normal pregnancy and birth. It wasn't until she was around 8 months old she stopped gaining weight, growing and reaching the milestones they are supposed to reach, she was referred to a paediatrician and that's when all the tests started.
Nearly 5 years later, on the the 14th December 2012, Ella was diagnosed with Cockayne Syndrome, I am also pregnant with our third child who was tested a week after the diagnosis and unfortunately it came back that the baby also is affected by the syndrome (due April). Alex our son who is 2 is not affected by the syndrome but may carry the gene.
Cockayne Syndrome is a very rare, recessive genetic syndrome, which means her father and I carry the mutated gene (ERRC6) and have passed it on to Ella and every pregnancy has a 1 in 4 chance the child will be affected. We have a two year old son Alex, who is not affected but am 39 weeks pregnant and we had a cvs test carried out which came back with a double blow of being positive for cockayne Syndrome. It is a premature ageing disorder where the DNA can't repair itself and leads to a shortened life expectancy (average 12 years).
Ella is now 6 years old can't walk unaided, has few words and learning disabilities. Ella will unfortunately over time lose more skills as it is a degenerative condition, she will suffer with kidney problems, high blood pressure and diabetes as her nervous system fails. There is no treatment and no cure.
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