A Carrickfergus family is hoping to raise awareness of a rare genetic disorder with a fundraiser in the town next month.
Claire and David Bell are hosting the event in support of the Williams Syndrome Foundation.
The couple’s six-month-old son, Daniel was diagnosed with Williams Syndrome (WS) in December last year.
According to the Foundation, WS is a genetic condition that is present at birth and can affect anyone.
It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities.
The condition affects around 1 in 10,000 people worldwide.
Daniel, who has two older brothers, Harry and Charlie, was born on September 30, 2015.
“We didn’t know there was anything wrong with Daniel until we noticed his jaundice hadn’t cleared by three weeks old,” said Claire, from De Lacy Drive in the town.
“He was born at term and I had a normal pregnancy; if anything I was perhaps too active!
“We were told our baby would be around 8.5lb and he arrived weighing 5lb 14oz. We didn’t know at the time that a lower birth weight compared to siblings is a classic sign of WS.”
After a week in Antrim Area Hospital, Daniel was taken to Birmingham Children’s Hospital, where he received further tests including a biopsy.
A week before Christmas, results confirmed that he had WS and was missing chromosome number seven.
“It took a while to actually sink in; when it started to hit us, naturally you feel like it’s something I had done during pregnancy,” said Claire.
“You feel angry that this has happened; jealous of others with perfect babies and sad for the life you thought your child would have.
“But then after a while you start to learn to live one day at a time.”
Claire and David found invaluable support online in the form of a Facebook page for other families living with WS from around the world.
However, the couple have encountered difficulties in raising the profile of the condition.
“What’s hard is finding support health wise for Daniel as he’s been referred to as ‘too complex a case’; WS is deemed too rare here in NI to benefit from an awareness campaign.” Claire added.
“Daniel will need lifelong medical help as he has congenital heart defects like pulmonary stenosis and SVAS (supravalvular aortic stenosis). This affects decisions like anaesthetic and medication.
“All we want is for health professionals here to sit up and learn more about WS. It may be rare, but it is real.
In order to raise funds and awareness for the Foundation, Claire and David are hosting a football match on Saturday, April 30 at Beltoy Playing Fields. This will be followed by a raffle and auction evening at Knockagh Lodge from 8pm.
For more information, contact Claire on email@example.com
Meanwhile, the national awareness day for Williams Syndrome is May 20.
If you would like more information about WS, contact the Williams Syndrome Foundation on firstname.lastname@example.org or visit www.williams-syndrome.org.uk