A FAMILY with two children with genetic disorders are sharing their story to raise awareness of the conditions and help raise money for charities that research them.

Siobhan and Ian Lund, of Low Coniscliffe, Darlington, have a 17-year-old daughter Ciara who has Rubinstein-Taybi Syndrome Syndrome , a genetic disorder characterised by short stature and learning disabilities.

Other features can include heart and kidney defects, feeding and orthopaedic problems, eye abnormalities and tumours.

Their son Ruari now aged 13, was born with DiGeorge Syndrome, a genetic disorder which results from a deletion on chromosome 22.

Ruari is quadriplegic, non-verbal and has a congenital heart problem.

Ciara’s condition occurs in just one of 125,000 births.

The first time Mrs Lund began to worry about her daughter was when she was six-months-old and behind with developments such as rolling, sitting and feeding.

But even at 11-months a paediatrician could not find anything wrong.

As a toddler Ciara was reviewed and diagnosed with Global Developmental Delay.

She had severe vomiting and her weight had plummeted. She was failing to thrive and had dropped off the weight charts.

Mrs Lund said: “She was walking by the age of four but she didn’t talk – although was good at Makaton signing – and wasn’t toilet trained.

“She was very small in stature. What struck me most was her toes looked unusual – with a noticeably broad big toe and a very tiny little toe.”

At the age of four Ciara was referred to geneticists from Newcastle Hospital at a clinic at Darlington.

The diagnosis came in a subsequent letter and was based on her symptoms. Ciara had been diagnosed with Rubinstein-Taybi Syndrome (RTS).

Enclosed was a leaflet describing the genetic disorder and its associated “mental retardation”.

“My whole world was rocked at that stage,” said Mrs Lund.

“I was pregnant with Ruari, Ciara’s brother. I was knocked off my feet, so shocked.

“I always hoped Ciara would catch up developmentally; this is your precious child and now you hear something is very wrong with them.

“I knew there was no cure for it.”

The family received the official diagnosis for Ciara after genetic testing at Great Ormond Street Hospital and the University of Amsterdam.

And more was to come for the Lund family as three-years-ago Ian was diagnosed with leukaemia, though thankfully he is now in remission.

Mrs Lund and her family are now calling on residents across the region to support the Genetic Disorders UK charity and their annual fundraising day, Jeans for Genes Day.

This year, Jeans for Genes Day is on September, 23 and the Lunds hope that workplaces and schools across the region will encourage staff and pupils to wear their jeans for the day in return for a donation to the charity.