Family can finally begin to enjoy life

Mar 9 2010 by Karen Wilson, The Journal

WHEN James and Elly Chapple’s first child Ella was diagnosed with a rare disorder that affects one in 800,000 babies, their lives were turned upside down. Now they’re determined to raise money that will help Ella’s condition. KAREN WILSON hears their story.

WATCHING Ella Chapple run around in fairy wings at her home in Alnmouth, it’s hard to imagine what she has been through in the first three years of her life.

She loves beating out a rhythm to music and pulling everything out of the kitchen cupboards like any other toddler, but she’s also had to cope with being partially blind and has endured nine months of gruelling chemotherapy.

“We’ve always called her the fairy queen,” says her mum Elly, 34. “I feel almost like she’s been here before. She’s ethereal and such a wise little soul. She’s got an infectious laugh and a huge personality. To me she’s a total gift.”

Elly, who runs a holiday let business and husband James, 35, a property developer, were delighted when they found they were expecting their first child in 2006. The pair met eight years ago on a skiing holiday to Andorra and married at Ellingham Hall in December 2005.

It was a completely normal pregnancy until the 36th week when James had a hospital appointment to check their baby didn’t have his blood disorder. “The consultant kept looking at me and asked how far gone I was,” says Elly. “He said I was far too small.”

A scan confirmed their baby was only 32cm long and in the breech position with no water left in the amniotic sac – so Elly was rushed in for an emergency caesarean. “She would probably have been stillborn if they hadn’t spotted it,” she says. “I owe Ella’s life to that consultant.”

Weighing just 4lb 12oz, Ella was taken to the special care unit where James noticed a slight spot in her eye. “We thought it was a cataract,” says Elly. “Then we were told she might have Down’s Syndrome as she had single palm creases.”

Finally Ella’s blood was analysed at the Centre for Life and she was diagnosed with WAGR syndrome, a rare chromosome disorder.

Babies born with WAGR syndrome often have Aniridia, where the iris is missing, and have a 50/50 chance of developing Wilms’ Tumor, a form of kidney cancer in children. They can also be prone to genito-urinary problems and mental retardation.

“I didn’t want to hear it at all,” says Elly. “As far as I was concerned you’ve had a baby, and chromosome disorder or not, it’s still your baby and you need time to adjust to that. We were in denial for a long time.”