HOW do you cope with losing a child?

As a parent you cannot comprehend such a situation yet Fiona Dunne and her partner Carl were faced with this devastating reality TWICE after two of their three children were diagnosed with a rare genetic condition.

Fiona explains both she and Carl discovered they were both carriers of a faulty gene after their son, Harry, was diagnosed with Niemann Pick Type C when he was three years old.

She recalls the initial signs something was wrong came after Harry was born with prolonged jaundice and a large tummy. He also had a heart problem which led to him being transferred to Leeds General Infirmary for further testing.

Fiona, who lives in Bingley, explains how Harry’s jaundice which wasn’t typically normal in babies, was thought to be liver disease. Subsequent testing led to the diagnosis of Niemann Pick Type C, a genetic condition his parents had previously known nothing about.

“He was quite a thriving baby. He started to develop normally,” says Fiona.

“They did a liver biopsy and we thought it would come back normal but we were just devastated when they called us in with the results saying he had this.

“For me, as a parent, I was completely unaware of these genetic diseases that children can inherit. You are not aware of it until it happens to you or somebody you know.”

By this time Fiona had already given birth to twin girls, Grace and Emily. After noticing Grace also had jaundice and a large tummy, Fiona contemplated whether Grace could also have the same genetic condition as Harry.

“We didn’t rush into testing the girls. I didn’t want to believe she also had the disease but Grace was unfortunately diagnosed just before she went to school because I thought if she started to have developmental problems it would be best if she was tested before school.”

While Harry and Grace inherited the genetic condition Emily didn’t. Fiona explains there is a one in four chance as she and Carl are carriers.

In their quest to find out more about the condition - and meet families in similar situations - the couple became involved in Niemann Pick UK.

Fiona, who is now an ambassador for the organisation, is eager to raise awareness of genetic conditions. It has also given her something to focus on while dealing with the devastation of losing both her children.

Harry was seven when he died in 2010 and Grace was 13 when she died in March this year.

Fiona is overcome with emotion when talking about their devastating loss. “They were delightful children,” she says.

She also talks about the impact of their loss on Emily. “She is absolutely remarkable,” says Fiona, referring to her daughter’s ability to raise awareness while keeping her brother and sister’s memory alive.

“Awareness in society is very important. It’s not just about raising money, it’s about making sure research into these illnesses gives children a better quality of life and that is what drives me,” adds Fiona.

She says they are particularly appreciative of the support they received from Niemann Pick UK and also the LS29 support group where they met Caroline and Richard Sutton and their son Max.

Max was born with 16p11.2-12.2 microdeletion which predominantly affects his learning ability and behaviour and causes processing and anxiety issues.

According to his parents it wasn’t immediately apparent. Max was born at full term weighing 6lbs and 11oz in June 2003 following a healthy pregnancy and pre-natal testing showing no cause for concern.

He was six by the time he was diagnosed with the genetic condition but his parents, who are both specialist nurses, suspected something was wrong when he was unusually sleepy and struggled to feed. He was also unusually placid and passive in comparison to their eldest daughter.

Says Richard: “This was the first sign we had that there was something wrong. The GP was concerned that he had low muscle tone, an unusual cry and some dysmorphic features.”

When their son was one the couple took him for a multi-disciplinary assessment. He was diagnosed with global developmental delays, but with an unknown cause he was referred to a neurologist, occupational therapist, physiotherapist and a speech and language therapist.

Says Richard: “The paediatrician felt that there was clear evidence he was developmentally delayed. He felt he would he would go on to develop but couldn’t say what level it would be. It was increasingly worrying for us.”

Their breakthrough came when they connected with the charity Unique - one of this year’s Jeans for Genes benefitting charities. Jeans for Genes is a national charity supporting individuals and families affected by a genetic disorder.This year’s annual fundraising ‘Jeans for Genes’ day falls on Friday (September 21). Proceeds support the charity’s work and transform the lives of children with genetic disorders. Unique invited the couple to their conference for an individual consultation with a leading geneticist.

Once Max’s diagnosis was confirmed to be 16p11.2, further testing, at the age of 12, found his deletion was larger than originally thought and ranged from 16p11.2-12.2.

“People don’t understand about genetic conditions, people aren’t aware of them, says Caroline, adding that meeting other families in similiar circumstances had helped them immensely.

Despite Max’s low muscle tone, the 15-year-old doesn’t let his limitations hold him back.

“He loves everything outdoors and he loves animals,” says Caroline.

Max, who attends Hazelbeck School, Bingley, enjoys playing golf and horse riding. He also brings great joy to his family.

“He has made us do things we would never have done. I used to be frightened of horses. I took him horse riding and I have been horse riding - it makes you get out of your comfort zone,” says Caroline.

“It has also taught me about other children with disabilities and to look behind the disability and to see the child.

“I think people can be frightened of things they don’t know, but if you really see the person behind the disability you learn an awful lot. We have learned so much from Max and we learn with Max every single day.

“He just makes you look at the world in a completely different way.”

For more information visit To find out more about Niemann Pick UK visit