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Mother’s alert over rare condition

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A Derry mother has spoken about the extremely rare condition her daughter was born with in a bid to raise awareness locally.

Kerry Deery from Eglinton said she believed there may well be other local parents unaware that their children have the same Williams Syndrome that her daughter Kara was born with.

The condition is so rare that a local GP hadn’t even heard of it before Kara’s diagnosis in a Belfast hospital when she was just three months.

Mrs Deery said that she is not aware of any other child in the Derry area who has to date been diagnosed with Williams Syndrome, although there is one other girl in Strabane.

Speaking at the start of Williams Syndrome Awareness Month, Kerry said she knew there was something different about her daughter as soon as she was born.

“I knew from the very first look I got at her there was something not right. She looked so different from my other children.

“When Kara was born she was in intensive care for 10 days and ventilated. They knew at that point she had the heart murmur. She got home after the ten days but she was very small, she didn’t feed well and she cried a lot.

“At three months she got a chest infection and because of her history she was admitted to Altnagelvin.

“They realised then she still had the heart murmur and they sent her to Belfast and that is when they told us she had Williams Syndrome. We’d never heard of it. Our own doctor had never heard of it.”

Kerry and her husband Patrick were told their baby daughter had a rare genetic disorder which meant that she was missing chromozome seven, Elastin.

“Kara had open heart surgery when she was 11 months,” Kerry said. “She has aeorta and pulmonary stenosis. We were actually lucky it was in such a position that they were able to do something for her. With a lot of children they cannot do anything.

Kerry said she and her husband Patrick considered themselves quite fortunate to have received a diagnosis about Kara was still quite small.

“Only for the fact she took the chest infection we might still be sitting here maybe not knowing exactly what was wrong with her.

“I’d say there are probably parents out there who don’t know their children have this syndrome.”

She added: “The doctors told us there is no basis for it. It could happen to any child. They did tests and there is nothing to suggest either Paddy or myself carry any gene.”

There are a number of trademarks with Williams’ Syndrome which Kara displayed, including some tell-tale facial characteristics.

“She also had a very high calcium level when she was born, which is also a sign of Williams Syndrome,” her mother said. “She was on a low calcium food for two years and that then corrected itself.

“Kara has a heightened self of hearing and there are certain noises she cannot tolerate like hand dryers and loud, sudden noises.

“Eating is another issue. Kara wouldn’t be a great eater, certain textures would prevent her eating certain foods. Her diet is very limited.

“Kara has learning difficulties and everything was delayed,

“She didn’t walk until she was two and a half and she still wouldn’t be very steady on the stairs and has to be helped up and down.

“She has a heart condition which would hold her back as well.”

One of the strangest features of Williams is that those with it are very sociable, talkative and inquisitive, a condition known as ‘cocktail party manner’.

“Kara will talk to anybody and everybody and she has no fear of strangers,” Mrs Deery said.

“She talks freely and doesn’t have that sense of danger when it comes to strangers.”

Kerry said she has found Facebook an invaluable tool for linking up with other families who have a child with Williams.

“It’s been very important,” she said. “I have been able to chat to other parents and able to ask, ‘does anybody else’s child do this?’

“It is reassuring to talk to other parents and also some of the adults with the condition themselves.

A lot of parents maybe waited two years for diagnosis so we were lucky.”

Kerry described Kara as “the life and soul of the house”, and she is very close to her brother James (16), and sisters Andrea (12) and Olivia (10).

“They are just dying about her,” Kerry said.

“Anybody that meets her just falls in love with her. She loves to know everything about everybody.”

Today, Kara attends hospital in Belfast once a year and a specialist doctor in Altnagelvin once a year, and she also receives speech and language therapy.

Kerry said: “In the long term I know she will never live totally independently, but she does attend mainstream school, Good Shepherd Primary School, with the aid of a classroom assistant. She has got a statement.

“She is probably not as advanced as they some of the other children and she is a year older than the other primary ones but she has settled into the routine and is doing quite well. It will be a case of waiting to see what happens when she get solder.

“It’s a learning process, and there are difficult times, but the good outweighs the bad.”

Kerry urged any parent who thinks their child may have Williams Syndrome to go and see their GP.

“The GP they can take a blood sample and that can then be tested,” she said.

Anyone seeking further information should check out the website: www.williams-syndrome.org.uk or www.williamssyndrome.ie.

 

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