Health News - Mother of 22q13 sufferer hosts event to raise awareness of extremely rare genetic disorder

Published: 3 June, 2011
by TOM FOOT

‘We know more about condition than the experts’

CHILDREN suffering from one of the rarest genetic disorders in the world travelled from around the country and across Europe to meet each other for the first time in Highgate.

The event – for young patients of 22q13 Deletion Syndrome, which severely affects speech and movement – was at the Konstam Children’s Centre in Chester Road last Saturday.

There are 43 people registered with the syndrome in this country and just 460 worldwide. Around 22 sufferers and their families attended the event, which was organised by Alison Turner, 43, whose 7-year-old son Gibson was diagnosed with the incurable and debilitating condition when he 18 months old.

Ms Turner, who lives in Highgate West Hill, said: “Of course when someone tells you your son needs 24-hour care it’s a lot to take in. You just want your kids to be healthy and happy, and when you find they may not be able to do some of the things you expect them to, it is a huge thing to go through. 

“I saw it in some of the faces of the families that came on Saturday; they are just so blown away by the situation. But you get to a stage when it’s OK.”

She added: “Your expectations change with a diagnosis like that. I certainly found I had more patience.”

Children with 22q13 (spoken as “twenty-two q one three”) do not have shorter life spans but they cannot string sentences together or walk for long distances. They require round-the-clock care.

Little is known about the condition and research is rarely done. It was not discovered until the 1980s, when experts noticed that some children born without a piece of chromosome had a shortage of brain proteins that help the flow of messages around the body.

Ms Turner said: “Even though they know what you haven’t got, it is something you need at the beginning. It’s like if you are building a house on rocky foundations – no matter what, you will always have rocky foundations.”

Gibson was in a good mood when we met on Tuesday: smiling as he walked hand in hand with his mum across the Heath and listening to music on her iPhone.

Businesses in Swains Lane donated food and flowers and Ms Turner said she was planning to found a charity later in the year to help formalise her campaigning.

She added: “Just to see other kids with the same issues as your child is significant.

“The siblings also gain a lot of support by meeting up and knowing that other brothers and sisters have siblings like theirs. And really the family members end up knowing more about it than the experts.”