A brave little girl's fight with undiagnosed killer

To look at the happy, smiling tot dancing round her living room you would never know that she suffers from rare and complicated heart defects which mean at some stage she will need a heart transplant unless a cure can be found.

She was born with her heart valves the wrong way round, one of her pumping chambers is missing and she had a large hole in her heart.

Ante-natal scans failed to pick up the defects, which were only spotted when Sienna was six weeks old and she stopped breathing and turned blue. Now her mum Kerry is calling for better antenatal screening of babies' hearts during pregnancy.

"It seems to be a bit of a lottery where you live as to how detailed a scan you get," says the mother-of-three from Doncaster.

"We were extremely lucky. We count our blessings that we saw something was wrong. If it had happened at night, it would be a completely different story.

"It was her brother Callum's fifth birthday and we had called in to see my parents. We suddenly noticed that Sienna had turned a terrible blue colour," explained Kerry.

They rushed the tiny baby to A&E in Goole and were transferred to Scunthorpe where she was put on a life- support machine.

"They said at the hospital that they had never seen a baby so blue alive before. It was terrible. You think you have a healthy baby and then suddenly you realise that you might lose her." At 4am they were transferred to Leeds General Infirmary where doctors stabilised her condition and diagnosed what was wrong with her.

"I don't know how we coped," says Kerry, "you have no choice. We had to ring and tell relatives who had been at a birthday party hours earlier that we had a baby fighting for life."

Four days later, the tiny baby, weighing just 6lb, went under the surgeon's knife for a nine-hour operation on her heart.

The Singletons were told that there was no cure for the condition which was affecting their little girl and that she would need further surgery in the future.

When she was two years old, Sienna under went a second heart operations – this time spending 16 hours in surgery.

Doctors gave her a one-in-four chance of survival, but without the operation she would have died.

"She came out fighting like she always does," says Kerry, "but we were worried that we might lose her."

Today Sienna is preparing for her fourth birthday next month. To look at her you would not know there was anything wrong but she will need more surgery, probably, this year and Kerry knows

her long-term prognosis is not good.

"Her lifespan is only said to be to her late 20s unless a cure is found.

"She is doing very well at the moment but she does get tired walking up their stairs. I am worried about her starting school in September and how she will cope with things like PE, but you just have to get on with life."

If no cure is found for her condition, then it is likely that Sienna will need a heart transplant in her 20s.

"We count ourselves lucky with our Sienna as she was one of the ones that went undiagnosed and by a pure miracle she survived six weeks."

During Sienna's treatment at the LGI, Kerry became a fundraiser for the Children's Heart Surgery Fund based there to support the Yorkshire Heart Centre of Excellence.

"Sienna and many more children in similar situations depend on this charity for the rest of their lives, and we hope that one day, with all

the money that is donated, a cure will be found for our little princess and all others."

Every year 10,000 children pass through the paediatric heart unit at the LGI from across the region and approximately 330 of these undergo open heart surgery. Over 40 per cent will need long-term care.

The CHSF funds valuable equipment, resources and research for the treatment of children with heart defects and provides a happy and relaxed atmosphere within the hospital for both the children and their families.

It has just made a 250,000 donation towards the project to move Eckersley House from St James's Hospital to close to the LGI, as a place where parents and families will be able to stay when children are having vital heart treatment.

"The Children's Heart Surgery Fund has been going for 21 years," explains the charity's director Sharon Cheng. "There have been huge advances in the treatment of heart disease in that time.

"Twenty years ago, 95 per cent of children would not survive open heart surgery, now 95 per cent of survive."

Few people realise that one in every 133 children is born with a heart condition, making this the most common birth defect in the UK. Most primary schools will have at least one or two children with heart conditions, while secondary schools will often have one or two heart children in every year group.

February is Children's Heart Month and Kerry wants to use the month to raise awareness of the condition.

"Unfortunately, as much as heart disease among children is the number one killer, there is not enough awareness about it, and many new-born babies go undetected at antenatal scans and at birth which in many occasions leads to death," she says.

The earlier a heart defect can be detected the better the outcome for

the child.

A spokeswoman for the Fetal Anomaly Screening Programme said that

when Sienna was born there were no national standards for prenatal screening. Standards were only introduced in 2008 and have been developed over the last 18 months.

"It is well established that fetal cardiac defects are extremely difficult to detect, and although ultrasound is an effective method of screening, it cannot identify all of these anomalies," she said.

"The national fetal anomaly ultrasound standards have recently been published by the NHS Fetal Anomaly Screening Programme and will be disseminated nationally from April 1, 2010, with full implementation expected by the end of April 2013."

n Kerry's next fund-raising event for the Children's Heart Surgery Fund is a Casino Night on March 27 at Drax Sports and Social Club, near Selby. Tickets are 12 and include play money, food, DJ and a

raffle ticket.

All the proceeds go to the charity. This is for over-18s only and there is a formal dress code.

For more information, visit www.chsf.org.uk

CONGENITAL HEART DISEASE

>Li< Congenital heart disease is an abnormality of the heart that a person has had since birth. In some cases, the condition is diagnosed when the baby is still developing in the womb, but in most cases the problem is not discovered until after the baby is born.

There are many different types of congenital heart disease – the heart's vessels or valves may not be properly formed or there could be holes between the chambers of the heart.

Congenital heart disease happens in about seven in every 1,000 pregnancies. For more than half of these children, the condition is a minor problem which either doesn't need any treatment, or can be surgically corrected.