Wonderful Sophia spurs family to help others

Wonderful Sophia spurs family to help others

7 May 2014

LITTLE Sophia Magee smiles despite the pain of a genetic condition diagnosed shortly after her birth almost two years ago.

Although her parents, Downpatrick couple Emma and Shane, were shocked by their baby’s diagnosis with Cornelia de Lange Syndrome in July 2012, they quickly accepted their daughter as she is and relish their time with her as she develops into a smiling toddler with an infectious laugh.

They are hoping people will help them raise awareness about Sophia’s syndrome, which causes her feeding difficulties, slow growth and developmental problems, by wearing purple on Saturday to mark Cornelia de Lange day.

Emma says she has received huge support from the local community since Sophia was born and has been humbled by various fundraising events held in tribute to her, including a team of 14 runners from Pulse Fitness led by Sophia’s aunt Joanne, who raised thousands of pounds by running Jimmy’s 10K in March.

Emma is hopeful that Saturday will raise further awareness about her daughter’s condition by highlighting some of the issues faced by those affected.

“We see Sophia as no different to any other child, she is just like everyone else,” said Emma.

“However, we do see that other people notice she is different and rather than asking about her behind closed doors we would like to answer their questions and maybe let people know about Cornelia de Lange syndrome.”

Sophia came to doctor’s attention shortly after birth when she weighed just four pounds nine ounces.

Emma thinks she was fortunate that a doctor immediately recognised that her baby was affected by a genetic condition and believes a quick diagnosis, within 48 hours, helped the new family get off to a better start.

“I only held her for a minute and she was taken by a doctor who knew straight away it was some sort of genetic condition,” she recalls.

“Children with the syndrome tend to look alike, with high arched eyebrows that meet in the middle, small upturned noses and thin down-turned mouths.

“They are born small and tend to remain small throughout their lives.”

Sophia now weighs just 14lbs and wears clothes for a three to six month old baby but is increasingly mobile despite her small stature.

“I can see people are sometimes surprised because she looks like a small baby but is able to sit in a shopping trolley or crawl all over the top of me,” said Emma.

“It is natural for people to be curious but we just want people to accept her, as we do.”

Emma said she has been buoyed by local support since Sophia’s birth with Celtic Bhoys Football Club and Pulse Fitness Club both helping to raise money for the Cornelia de Lange Foundation, the Royal Victoria Hospital where Sophia is treated and for equipment and support for Sophia herself.

“The awareness day on Saturday is about acceptance of the syndrome and acceptance of Sophia,” says Emma.

“We are also aware that there are other families out there who do not get a diagnosis until much later and maybe somebody will read this and realise that their child might be affected.

“We realise that once you have a diagnosis and get support in place then things get easier.

“You do not know what the future holds for any child and we are no different. We try not to look too far ahead. I am loving being a mum and will encourage Sophia to do her best. I would not change her.

“Hopefully anyone wearing purple on Saturday will help spread the word about Cornelia de Lange Syndrome and Sophia.”