Mum Aisling Roberts tells MARION SAUVEBOIS about her young daughter Darra’s fight for life

HER daughter would not survive her first birthday.

As this death sentence was pronounced, Aisling Roberts leapt from her seat in the consultant's office, refusing to hear any more.

There must be some mistake she repeated over and over. She would not lose Darra to Edwards' syndrome.

"I kept saying 'No way, this can't be right', I was trying to escape the situation," recalls the mother-of-three. "She was 14 weeks old. All I could think was there is only 38 weeks left."

Three days after Darra's birth in September 2014, doctors detected a murmur.

Far from uncommon in newborns, they reassured Aisling and her husband Nick this would be monitored at her six weeks' check-up.

But five weeks later, during a routine appointment, a health visitor noticed a slight drop in Darra's weight.

Despite being told not to be alarmed, Aisling, a clinical nurse specialist at The Great Western Hospital, asked for her child's check-up to be brought forward to ensure she was indeed in good health.

The following day an ultrasound revealed Darra suffered from ventricular septal defect, a hole in heart's lower chambers.

The infant was referred to Bristol Children's Hospital were doctors suggested she may have be born with DiGeorge syndrome, a genetic disorder which causes heart defects and learning difficulties. To lift any doubt, a blood test was ordered for genetic testing.

"When the doctor said it might be DiGeorge, he was not overly worried and whatever it was it was not life-limiting," says the 39-year-old from Old Town.

"She was a perfectly normal baby. The only thing we were worried about was her heart and possible open heart surgery.

"But the hole was getting smaller and doctors were over the moon about it."

But her cautious optimism was crushed on New Year's Eve, when she received an email from Dr Lucy Grain, a consultant at GWH informing her Darra's test results were back and asking her to come in as soon as possible.

"I knew there must be something wrong. She sat us down and her opening words were 'The genetics are back, none of us were expecting the results. It shows she has full Edwards. She said children with this didn't usually survive their first birthday.

"It was impossible; I requested a retest.

"We went back home, my husband was in a puddle of tears. I didn't cry. I was in complete shock. We were devastated."

Edwards' syndrome is a genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body.

Just one in every 12 babies born with Edwards' syndrome survives beyond one year. Those who do are plagued with heart and kidney problems, breathing issues and can grow up to be severely disabled - both mentally and physically. All symptoms vary greatly from one case to the next.

Darra, her parents were told, suffered from the most serious form of the condition, full Edwards, and had little chance at life.

Awaiting the outcome of the second blood test, Aisling and Nick, 42, were of two minds. Desperately clinging to the their hope the diagnosis was a mere mistake, the result of an unfortunate blood samples mix-up, they could not ignore the harrowing possibility that each day may be their daughter's last.

"We thought she was going to die," she says, her voice filling with emotion. "At the same time I was hopeful. I was praying for them to be wrong, praying that they had mixed up the samples. We decided to bring her christening forward. I was on a mission to make memories. I organised photograph shoots.

"I was on the phone to charities, spoke to families with children with Edwards. I wanted to be prepared. I wanted to know what could happen. Everybody I spoke to said it didn't make sense, that if she had full Edwards she shouldn't be able to breathe or feed.

"We were in limbo.

"I remember when she was christened somebody gave us an item of clothing for 18 months and I had to get rid of it. I couldn't bear to have it in the house."

Their prayers were answered in part when it emerged in January that Darra suffered from mosaic Edwards' syndrome, meaning not all her cells were affected by the chromosome abnormality. The immediate threat to her life was lifted. In all likelihood she would celebrate her first birthday.

Nine-month-old Darra may thrive as some rare patients have or grow physically and mentally disabled, reliant on her family and carers' round-the-clock support for the rest of her days. Too little is known about the disease to predict how it may affect her faculties.

"It's impossible to know how she's going to be affected. There is a forum on Facebook formed by a woman, Debra, in America who has Edwards very mildly. She is 43 and she is completely normal. She went to college. But there are others who are really disabled.

"At the moment Darra is meeting every milestone but she might only be normal up to a point. At six or seven years old she might start slowing down.

"You can't help tormenting yourself wondering is she going to be able to live by herself. She is never going to be able to have children - if she did they would have full Edwards. You don't want her three siblings to be burdened with their disabled sister when we are gone. You shouldn't think that way but you do."

As the condition makes her prone to infection, Darra could be struck down with any manner of illness at any moment.

Last month, she was screened for a number of conditions, including cancer and visual impairment. All tests fortunately were negative.

"They don't know if her immune system could cope with normal infections," adds the mother of Blathna, seven, Maebh, six and Lorcan, four. "We will always have to be super vigilant with her. "It's the unknown which I find really hard. Why can't anybody tell me what life is going to be like? The genetics nurse specialist in Swindon has been in the job for 20 years and she has never seen a child with Edwards survive. The people who did the genetic blood tests have never met a child with mosaic Edwards. They've only read about it; they have no point of reference."

Broaching the subject of their baby sister's death with her children has been devastating.

"I thought how do I explain it to the children she might die? We are Catholic so we talked about heaven and that she will be going up in the sky somewhere.

"Maebh said the other day 'I love my baby sister, I hope she doesn't die'. It comes up every now and again with the children."

For now Aisling is relishing every moment spent with her ever-smiling daughter. Hearing her say 'mama' and 'dada' for the first time, when doctors feared she may never speak was a tremendous victory. The family travelled to Ireland, Aisling's homeland, in February to introduce Darra to her relatives. On July 11, they were treated to a helicopter ride.

"She is the happiest, smiliest baby," beams Aisling. We want her to be happy and plan for her future as much as we can.

"We keep taking pictures of everything and little videos. You don't want to think it's going to be the last day but if something did happen, God forbid, I want to be able to remember."

Aisling is keen to hear from families across the country affected by Edwards' syndrome. She can be contacted at aislingspain@hotmail.com.

FACT FILE

" Edwards' syndrome, also known as trisomy 18, is a serious genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body. This disrupts the baby's normal development and, in many cases, causes them to be miscarried or stillborn.

" The disorder affects one in 3,000 to 6,000 births.

" Around one in every 12 babies born with Edwards' syndrome survives beyond one year, but lives with severe physical and mental disabilities. Some children do survive to early adulthood, but this is very rare.

" 94% of babies with Edwards' syndrome have the full form, where every cell in their body has three copies of chromosome 18, instead of two. Most of them die before infancy.

" About 5% have the extra copy of chromosome 18 in only some of their body cells. This less severe form of the disease is known as mosaic.

" The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. Some babies may only be relatively mildly affected, while some can be severely disabled.

" Around seven in every 10 babies born with mosaic trisomy live for at least a year and, in rare cases, babies with the condition may survive into adulthood.