Routine heart tests could save children like my Sam

Sam was born at the University Hospital of North Staffordshire, and he was given a good Apgar score – a test designed to quickly evaluate a newborn's physical condition after delivery and to determine any immediate need for extra medical or emergency care – of nine out of 10.

I noticed that his left arm was a bit stiff though, and I asked if that was normal. The midwife told me he'd probably just been lying on it funny, but that she would get a paediatrician to look at him. When the paediatrician came round, he noticed that Sam's temperature was low, so he was stripped off and placed under my night to gain body heat from my skin. But his temperature didn't rise.

Six hours after he was born the paediatrician came to the ward and looked at him. He pressed Sam's nipples a couple of times but they were not pinking up. Oxygen was not making him pink up either, and this was because it wasn't going into his blood. the oxygenated blood was not getting to his lungs, so it wasn't picking up new oxygen – it was just going round his body.

Sam was taken to the neonatal ward and an X-ray was taken of his heart.

The medics came back to me and said his two major arteries were the wrong way round, and he would need to go to Birmingham Children's Hospital to have them switched back. This was a big thing for us to hear.

We waited for an ambulance, and Sam was taken to Birmingham while we travelled down by car.

By the time we arrived, he had been set up in intensive care and was fully ventilated.

The consultant Dr Paul Miller told us Sam was actually missing his right ventricle, and his pulmonary artery was blocked – which is quite unusual because normally there is a narrowing, but not a complete blockage – which meant no blood was getting to his lungs. Also, the part of the heart that de did have had a hole in the middle. Sam's condition is rare, and it was a matter of the doctors saying they would see what they would could do, not: "We can do this."

Ten years previously, a surgeon had developed a process of operations, to prolong the life expectancy of babies like Same, that are done at different stages of their lives so they can be ready for a transplant in their teens or early 20s – which is when they would have a better chance of getting a heart and would have a longer life expectancy. When Sam was one day old, he went for a cardiac catheter, which is a pipe that goes up through the groin into an artery. Dye is pumped in, and an X-ray is taken to determine whether there are any blockages or underlying problems with the blood flow.

And because Same was so poorly, at two days old he had to have the first stage of the process of operations, the blalock taussig shunt, or BT shunt.

He spent a week in intensive care, and a week on a ward before being allowed home. For the next eight months he was in and out of hospital with feeding problems. He was being fed through a tube, but his stomach would not accept the food, and he wasn't gaining any weight. It was a complete nightmare. It made him weak and lowered his immune system so he was susceptible to coughs and colds.

Same had the next stage of the operations, the cystoperitoneal shunt or CP shunt at the age of eight months. This was earlier than we thought it would be, but because he was so poorly it was necessary. The operation went well, but for some reason, two or three days after it, he stopped breathing. Luckily a consultant was with him at the time, and was able to revive him.

After that, his feeding picked up and was no longer a problem, and he only had to have the odd stay in hospital.

The next major problem was in October 2002, when he started getting down and poorly. We took him to Birmingham and he was there for quite a few weeks because the doctors wanted to try to fix his leaky valve before he had the third operation. We agreed to this, knowing the risks, and 48 hours later his valve had tightened and we though it had been successful.

But it got loose again, and actually got worse.

He went down with bronchitis on Christmas Day that year and was rushed to intensive care – he wasn't expected to live. But he pulled through, and we were told he just wasn't suitable for the third operation, and our only option was a transplant. So we went to the Great Ormond Street Hospital for him to have suitability assessments, which he passed, and he was put on the donors' list.

He was on the list for six months and nothing happened. We couldn't go too far from our home or the hospital because we had been given a pager in case a new heart was found, and it was having a serious affect on my family's life. I was told it would be unusual if they did find a donor because he was so small, and his chances of surviving the operation were slim.

During those six months Sam started to get better, and was acting like a normal two-year-old – playing with his sister, and finally walking.

Three years ago I made the decision to take him off the list because I wanted him to have a shot at a normal life that didn't revolve around the pager. I was told that without a new heart he would only live for another two years, but it is three-and-a-half years since they said that. And Sam has been absolutely amazing.

Without his medication, he would nor survive, but the doctors cannot understand how he is doing so well.

How he does it I do not know.

I do think that all babies should have heart checks early on. My cousin's son had a hole in his heart, and that wasn't discovered until he was four or five. I also think that scans during pregnancy should be better.

If I had known in advance that Sam had these problems, I could have been better prepared and perhaps could have arranged to have had him in Birmingham.

Early warning prepares doctors and parents for problems

The birth of a child is a life-changing experience for many reasons and the arrival of a healthy baby brings much joy and happiness.

But not all births are problem-free, and learning that a child has an abnormality can be heart-breaking for parents.

Although some problems that could be picked up before birth – through prenatal scans – may be untreatable, early warnings would give parents the opportunity to make preparations if they were aware of them in advance.

Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths.

Many heart problems can be life threatening, and a report by Italian cardiologists suggests that all babies should have an electrocardiogram (ECG) heart scan in their first month of life to check for any abnormalities.

Writing for the European Heart Journal and basing their calculations on work involving 45,000 infants, they claim that routine ECG screening could save up to 250 lives a year in EU countries – and would still be cost efficient.

Screening picked up a genetic condition called Long QT Syndrome – a leading cause of sudden deaths in children and young adults – which is treatable but can be deadly if missed.

It is often mis-labelled as sudden infant death syndrome (SIDS) and is estimated to affect between one in 5,000 to one in 20,000 people.

A disorder of the electrical rhythm of the heart, Long QT Syndrome can be seen easily on an ECG scan and could be treated early – saving lives.

Professor Peter Schwartz, from the University of Pavia, was one of the contributors of the European Heart Journal report, which revealed that the cost per year of life saved by identifying and treating Long QT Syndrome would be about 11,740 euros (£8,013), and for saving one entire life of 70 years it would be about 820,000 euros (£559,683).

He said: "Our study clearly demonstrates that neonatal ECG screening is highly cost-effective and that a significant number of lives can be saved for an objectively low cost."

Steve Cox, deputy chief executive of Cardiac Risk in the Young (CRY) – an organisation which works with cardiologists and family doctors to promote and protect the cardiac health of young people – said that the study was an encouraging step in preventing needless young deaths, but that screening should be carried out after puberty.

He added: "Although neonatal screening is clearly important, CRY recommends ECG screening for all young people after puberty when the majority of cardiac conditions that can cause sudden cardiac death can be identified."

CRY out for the cardiac cause

Sudden Cardiac Death is an umbrella term used for the many different causes of cardiac arrest in young people.

Experts estimate that at least eight young people die suddenly each week in the UK of cardiac abnormalities – sudden death syndrome of cardiac death.

The majority of young sudden cardiac deaths are due to inherited forms of heart muscle disorder and irregular heart beat. Hypertrophic Cardiomyopathy is the most common of these conditions.

The organisation Cardiac Risk in the Young (CRY) raises awareness of the symptoms of cardiac abnormalities and conditions which can lead to sudden cardiac death, while emphasising what can be done to help young people who have been diagnosed as having a cardiac abnormality.

Conditions which, is undetected, can lead to sudden cardiac death include Hypertrophic Cardiomyopathy (HCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Coronary Artery Disease (CAD), Restrictive Cardiomyopathy (RCM) and Myocarditis.