Living with the unknown

1:01pm Friday 1st December 2006

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ONE Kenton family is struggling to make people aware of a genetic disorder that effects one in every 40,000 to 100,000 babies born.

Anita Shah, 39, of Kingshill Avenue, had no idea what to expect when she was told her newborn baby had Cornelia de Lange Syndrome (CdLS).

Arjun, now eight, was diagnosed within hours of being born.

Anita said: "At the moment they are doing research as they don't know what gene or chromosome causes this syndrome, so they cannot offer any tests when a woman is pregnant.

"It is about 100 times rarer than Down's Syndrome. The only thing I was told before Arjun was born was that he was quite small, but I was told not to worry about it.

"Within half a day of when he was born they had found out what he had. I didn't have any time to react to anything. I was in shock."

Children with CdLS can have mild to severe disabilities, Arjun has a severe form of the disorder.

CdLS sufferers are typically smaller than others in their age group, they have similar facial features to others living with the disorder and have limb abnormalities which range from extremely small hands to a complete absence of forearms.

Anita and her husband, Rajesh, 38, have learnt to cope with Arjun's catalogue of disabilities and have a support network which includes family, friends and daily carers.

Anita explained: "Arjun has no speech. They say some children never talk but some of them do at a later stage.

"When he was very young we thought he may not walk but we are lucky enough that he has started walking.

"Most CdLS children have cleft palette, Arjun has and because his airways are very small they have not repaired this yet.

"He also has swallowing difficulties so is fed through a tube in his stomach which makes it quite difficult for us because we have to make sure he doesn't put things in his mouth."

A pupil of Woodlands First and Middle School in Edgware, Arjun's daily routine is essential for his wellbeing.

Anita said: "He is very temperamental , he gets frustrated because he cannot express himself or when he tries to tell us something we don't always understand.

"He can become destructive and throw things around. He doesn't understand danger, he could walk out of the door.

"He has tried to do it a few times but we get him in time. He needs a lot of attention and always wants someone to be around him."

Arjun's younger brother, Akshay, five, is too young to understand the difficulties his older sibling faces.

Anite explained: "We were worried when I was pregnant with Akshay but we were told that it would be very rare for this to happen again.

"We couldn't be offered any specific tests, they just did more scans and kept and eye on me."

On Saturday last week Anita and Rajesh organised a fundraising night at The Lancer, in Kenton Road. They raised more than £2,000 for the Cornelia de Lange Syndrome Foundation and Northwick Park Hospital's children's unit.

Anita said: "The hospital has been brilliant. Staff at the children's unit are amazing. We have had two or three occasions when we have nearly lost Arjun. They are a real help and very welcoming and always explain everything."

For more information about Cornelia de Lange Syndrome, visit www.cdls.org.uk.