Against all odds

THAT teenager Helaina Stone is walking, talking and enjoying life is little short of a miracle. The 15-year-old was born with an extremely rare condition. But like any other popular teenage girl, she lives in a whirl of social activity, cramming in weekly sessions of cheerleading and Latin, ballroom and disco dancing.

She is a venture scout, has passed performing exams and has been an extra in TV soap “Hollyoaks.” Reporter Marina Berry spoke to her remarkable parents, who have dedicated their lives to their daughter and to other children with the little-known Costello Syndrome.

Cath and Colin Stone knew there were problems before Helaina was born.

She was to be their first child, and the joy of an easy early pregnancy for Cath soon turned to anxiety when scans showed something was wrong.

“I was under a geneticist and I had scans every two weeks, but they didn’t truly know what the problem was,” said Cath.

The couple struggled with the options for the pregnancy offered to them, but decided between them to continue and deal with whatever life threw at them.

“It was an awful time and we talked about it in great depth as a family,” said Cath.

“It was such a shock. I had such a healthy pregnancy, we knew the baby was a girl, we had picked her name, and we thought everything would be really nice.

“I had a human being growing inside me, and we had waited eight years for a baby, and Helaina had waited eight years to come — we both felt the same.”

Colin added: “We had a baby on the way we knew had problems, but no-one could tell us what those problems would be.”

Helaina spent six weeks in the special care baby unit after she was born, and at six months old was diagnosed with a condition so rare there was no information available to tell her parents what to expect.

Colin recalled: “We had a small, sick, child with an incredibly rare disorder and no support network.”

The youngster was the 23rd person in the world to be diagnosed with Costello Syndrome, and is now among just 300 people worldwide who are known to have the condition.

Her father explained: “It’s a cancer causing syndrome which also affects the heart. It causes feeding problems, and results in special needs and small stature.”

Helaina, who is just over 3ft 9in tall, lives with her parents just over the Chadderton border in Parkfield Road North, New Moston.

The faulty gene which causes Costello Syndrome was identified in 2005, a development Colin describes as “mega-exciting.”

He explained it as a chance mutation — a tiny discrepancy — which changed the couple’s lives forever.

It took six years for Helaina to learn to eat. Cath added: “When she was six months old she smiled for the first time at Colin and we just cried.”

Operations

During her short life, the brave teenager has had a dozen major operations, 27 described as “not so major,” dozens of minor procedures, and around 60 anaesthetics.

She had surgery for stomach cancer when she was two, an Achilles tendon released at three, and at four the cancer returned and she was given only a 10 per cent chance to pull through.

But the brave youngster battled on, only to undergo a hysterectomy at the age of five, brain surgery when she was six, and surgery to fit a shunt from her skull into her stomach three months later.

After another three months it failed, and she was back in hospital for a replacement.

The following year, Helaina, who has curvature of the spine, underwent a 10-hour operation to fit titanium rods in her back.

She needed a further 10 hours of surgery to replace them when they snapped, and when they later slipped and she needed further surgery she contracted the superbug MRSA, and her wounds took three months to heal.

Doctors ended up having to fuse Helaina’s spine in another 10 hour operation at the age of 11, and the following year she underwent another 10 hours of open heart surgery.

Since then she has managed to stay out of hospital, but Cath recalled: “All we had for 13 years was planning operations and it has been a long, hard road.”

Cath clung on to her job as a nursery nurse until, when Helaina was five, she had a nervous breakdown. “I just couldn’t cope any more, and I gave up my job to look after Helaina. It was the best thing I could have done,” she said.

During those years, Colin set up a website — costellokids.com — and later a support group, which now has 171 members worldwide.

“We wanted to help other people who were travelling the same road with the knowledge we had gained,” he said.

“When Helaina was born we felt very isolated. I’m an IT guy, yet I could find nothing to tell us what to expect.

“We have had a lot of support over the years from a charity organisation called Cauldwell Children, and we are still constantly learning.”

Helaina turned out to be one of the most medically complex cases of the condition, and Colin said: “She has had everything that can affect Costello children.”

In August, the family will attend a research symposium in California, along with other families affected by rare disorders, to meet scientists from around the world.

Helaina will be among those who give a sample of their DNA for research.

Colin explained: “Helaina’s mutation is cancer forming, and it is believed Costello children could hold the key to understanding cancer, and potentially lead to novel treatments and cures.”

The families, however, hit a stumbling block when a grant from the National Institute of Health in the USA was withdrawn because of the credit crunch.

It means a fund to help towards the costs of attending the conference is now £15,000 short, and some families who were relying on financial help may be unable to go.“Because we are so rare, fundraising and getting sponsorship is a massive problem, as is raising awareness,” said Colin.

“What Helaina can’t do she adapts,” said Cath. “She’s an inspiration and has such a charisma.

“She is one of the lucky ones, she’s still here, and we enjoy being her parents so much.”