Exeter nurse holds a week-long bake-off for a charity close to her heart

Huw Oxburgh
Authored by Huw Oxburgh
Posted Wednesday, September 25, 2013 - 4:27pm

Carol Day, a nurse at Royal Devon and Exeter Hospital organised a week-long bake-off to raise awareness of a little known a genetic condition and help raise money for Jeans for Genes.

Carol’s son Tobey was born with Smith Lemli Opitz syndrome 15 months ago and has had numerous appointments to help his physical and mental development.

The bake-off has raised £279, thanks to all the staff – doctors, nurses and other healthcare professionals – who made and bought the cakes.

Carol, who works at Surgical and ENT Outpatients, said that, thanks to the wonders of social media she has found a good support network. However, because the condition only affects between 1 in 20,000 to 60,000 babies a year, most of her new friends are dotted right across the country.

She said: “We are lucky that Tobey was diagnosed at a young age – he was only six weeks old. Usually, diagnosis happens quite later with milder cases, of which Tobey is one.

“What it means is that physically Tobey has some classic symptoms – droopy eyelids, conjoined toes – and he there is also a developmental delay. He will be slower to start walking than other children. We also expect that he will have autistic traits when he is a bit older. He is such a happy child, though. He melts the hearts of everyone he meets.

“I am raising money for Jeans for Genes because there is no specific charity for Tobey’s condition. This is something that I would love to set up but, with all Tobey’s appointments at the moment, it is not something that I have time to do!”

While individually rare, in total genetic conditions affect 1 in 25 children born in the UK today.

Jeans for Genes day is an annual fundraising event, which took place last Friday with hundreds of schoolchildren giving donations to wear jeans at school. The donations were then funnelled to 23 different charities which help children with genetic conditions.

Find out more at www.jeansforgenesday.org

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