'We were told our daughter would die'

By Jane Elliott
BBC News Online health staff

'Victoria is loving and mischievous'

Victoria Peaford was born with a rare genetic condition - so rare it took doctors many months to diagnose.

Now a teenager, she is one of just 2,000 people worldwide affected by Cornelia de Lange Syndrome (CdLS).

It is one of nature's cruellest inheritances, causing children to be born with missing or deformed limbs and impeding both mental and physical development.

The doctors' ignorance was so profound that they at first told the family, wrongly, that Victoria was unlikely to live past the age of 10, and that she would never walk or talk.

I can remember sitting in a theatre production with tears running down my face when she said her first line - we never thought would be possible Alan Peaford

For Victoria's parents, the agony was increased by the fact that that no one knew why she had the condition or what caused it.

When Victoria from Grays, Essex, was born 19 years ago, little was known about CdLS and she was only diagnosed after a struggle.

Like many with the condition, Victoria was small at birth at 6lb 9oz.

She had the characteristic small hands and feet and suffered from reflux, but there was not thought to be any serious problem.

But at eight months, a routine health check had changed all that.

Great Ormond Street

"It was a completely normal pregnancy. She was smaller than our other two children had been at birth and she was not the prettiest baby," said her father, Alan Peaford.

"She looked a bit like a ventriloquist's dummy, but I just thought she took after my side of the family.

"It was not until eight months and the health visitor said to us 'You know that she is retarded?'

"We went to our GP and asked what she had meant and he did not know.

"Victoria had reflux and by a year she was still pretty close to her birthweight.

"Our GP saw her and said he could not refer us. He said he did not know what to do and suggested that we went to Great Ormond Street Hospital and that my wife should cry until somebody agreed to see us as they did not usually take walk-in cases.

"So we did that and she was diagnosed, but she was by now 15 months.

"We were told that she would not walk and that she would probably only live until she was 10.

"But she walked at 20 months and she spoke first when she was six years old.

'So difficult'

"I can remember sitting in a theatre production with tears running down my face when she said her first line, because she was able to do something that we never thought would be possible.

"Now has the mental ability of a nine or 10-year-old child and is still small in stature, but her reflux has been cured and she is loving and mischievous.

"Luckily is the mild end of the CdLS spectrum and although she has certain autistic tendencies, she does not, like many of the children have upper limbs missing.

"But she does have small hands and a deformed little finger.

"We understand how difficult it must be for the parents whose children are most profoundly affected."