Family's charity support thanks

Holly Jones was found to have 'chromosomal re-arrangement'

The family of a three-year-old girl diagnosed with a chromosome disorder want to raise £2,000 to thank a charity for its support.

Holly Jones, from Bangor, was diagnosed with chromosomal "re-arrangement" after she failed to develop as expected.

Genetics specialist nurse Carolyn Owen at Ysbyty Gwynedd, Bangor, said no two cases were ever exactly the same.

Families affected needed support because of the wide-ranging effects of chromosomal changes, she added.

Holly's mother, Sharon, said the family were told her daughter had a missing eighth chromosome and also an extra piece on her 12th chromosome.

It will be nice for us to give something back Sharon Jones, Holly's mother

It had been a steep learning curve since the diagnosis, she added.

"I didn't realise that every chromosome had a job to do.

"In Holly's case her speech and also tasks such as picking things up are taking her a long time to learn."

Apart from being able to speak to someone about the situation, Ms Jones said the charity called Unique had been able to provide practical support.

"Holly is in pre-school now, and there were loads of forms we had to fill in, I didn't know where to start.

"We will also have to make a decision before she starts school full-time in September, whether she goes to a mainstream school, or special needs school."

The auction was a way to thank the charity for this support, she said.

"It will be nice for us to give something back," she added.

Lots at the auction include tents, a specially-made dolls' house and signed pictures from celebrities such as Brad Pitt.

Nurse Carolyn Owen said it was difficult to say how many children were affected by "chromosomal re-arrangement".

Depending on the severity of the changes to the chromosomes a child could have educational/physical or behaviour problems, sometimes all three, or any one of them to a lesser or greater degree, she said.

"Families need a lot of support because we are not in a situation yet to tell them, 'look this is what your child has, and this is how it will affect them', every case is different," she added.

The auction starts at 1900 GMT on Friday at Bangor Conservative Club.