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.”

As the condition is so rare, none of their doctors had ever come across it. “They were all guessing and second-guessing,” says Elly. “It was bewildering. I had no faith in anybody I met because they were just looking on the internet like us.”

Unsurprisingly, Elly developed post-natal depression.

“Any mum who’s had a baby is a risk,” she says. “You go from being a couple with a nice lifestyle and your world completely stops, you’re at the mercy of your child. So to tell somebody on top of that, that their child is going to spend the next six weeks in and out of the RVI, talking about terrifying things that could happen to them in the future, it’s just a timebomb waiting to happen.”

For the first 18 months the couple had to cope with Ella’s terrible breathing difficulties. “I had to put a 9cm tube down her right nostril every night, which she was terrified of,” says Elly. “I didn’t want anyone else to do that. It wouldn’t be fair on Ella as it’s a lot of trust to place in someone.”

Just when these problems were starting to improve, Ella was diagnosed with nephroblastoma, a precursor to Wilms’ Tumour of the kidneys.

Two lumps were removed, and although it hadn’t developed into cancer yet, Ella needed chemotherapy once a month for a year.

“It was a huge decision,” says Elly. “Chemotherapy is a barbaric thing to do to a child. She cried all the time and suffered severe neuropathic pain in her fingers and her toes. She would head bang until she cut her head and bite her arm until she bled.”

In September last year Elly and James had to make the agonising decision to stop Ella’s chemo three months early. “I thought the treatment was going to kill her,” says Elly. “I didn’t think she could take it any more. There was no quality of life.”

However, with care and support from the RVI, especially their paediatric oncologist Juliet Hale, things started to look up.

Ella’s CT scan in December was clear and since then she’s been coming along in leaps and bounds, even starting to talk.

“She’s a happy little girl for the first time in a good year and a half,” says Elly. “I’d forgotten what it was like to hear her laugh.”

As WAGR syndrome covers a huge spectrum, Elly believes that her daughter isn’t a severe case.

“You can be 5% or 95% affected,” she explains. “She’s got the Aniridia and the Wilms’ Tumour but I don’t believe she has anything else. She’s about a year behind develop- mentally but most experts have said it’s because of what she’s been through. Yes children are resilient but they’re not super human. Children do suffer from post-traumatic stress and the medical interventions she’s had since birth will have a lasting effect.”

Now the couple have a new addition to the family, eight-week- old Reuben, and are starting to feel more optimistic about the future. The only sign of Ella’s condition is the red and white tape on corners and steps to help her navigate through the house. And she’s ditched her sunglasses outside for a peaked cap to protect her eyes.

“It’s enriched our lives in a fantastic way even though it’s taken us to the depths at the same time,” says Elly.

“Things become less important that were important before. You value the simple things in life.

“When your child has screamed for six hours and you’ve taken her out for a walk and done 1,000 rocks on your knee, it teaches patience.

“There have been times when I’ve wanted to bolt out of places with Ella because people look at us. It can be mortifying and upsetting when she has a meltdown and people stand and stare. So I don’t judge any more. I look at any child with total compassion.”

James adds: “She’s one in a million. Because of the way she has to touch everything, she’s got so much faith in people. She is the most loving child and always wants to hug you.

“Everybody who meets her immediately falls in love with her.”

How you can help

Part of Ella’s condition is Aniridia (having no iris) which causes partial blindness and affects one in 96,000 newborns. Elly and James are raising money for Moorfields Eye Hospital in London, backed by Aniridia UK, for research into curing childhood Aniridia.

“It’s something I believe could be cured in this day and age,” says Elly. “Especially with the stem cell technology that’s out there.”

By creating a sub- group within an existing charity, James and Elly will have no admin costs and so all the money raised will go directly to research.

Friends and family have already started raising money. James is taking part in a canoeing, biking and running event, Elly’s sister is climbing Ben Nevis with her netball team, her cousin is doing a sky dive and her brother is climbing the three peaks. They also plan to hold a Fairy Tea Party at Alnmouth and want others to hold similar events around the region.

For more information visit www.cureaniridia.co.uk or donate online at www.justgiving.com/Shine-the-Light-on-Aniridia

Alternatively email Elly at ellychapple@googlemail.com

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