Just a heartbeat away from tragedy

AFTER Anne-Marie fainted for the third time, her parents were understandably worried. But the fit, healthy 13-year-old from Ferryhill seemed none the worse for her fainting fits and three different doctors, two GPs and an accident and emergency doctor, could find nothing wrong.

Kath Conroy, Anne-Marie's grandmother, was with the County Durham teenager when she appeared to have some kind of fit at a presentation at her local running club.

"I said to the doctors it looked like epilepsy but no checks were done,"says Kath, who feels that doctors were too hasty to dismiss the fainting as something associated with adolescence.

Despite the reluctance of local doctors to investigate the reasons for her faints and fits, her family found out the hard way that the youngster was suffering from a life-threatening condition.

In September, 2001, Anne-Marie was swimming with friends at Spennymoor Leisure Centre. A close friend, Sarah Combill, noticed the 13-year-old lying motionless on the the bottom of the pool. Sarah managed to pull her friend to the surface where attempts were made to revive her. Sadly, she was confirmed dead on arrival at Bishop Auckland General Hospital.

At the inquest into Anne-Marie's death in July, 2002, it was concluded that the teenager had died as a result of drowning, and that an epileptic fit could not be ruled out as a likely explanation.

Her grief-stricken parents, Iain and Marie Readshaw, tried to put the death of their daughter behind them and rebuild their lives. But in what appeared at the time to be an incredible coincidence, the Readshaws lost their son Daniel, also 13, in almost identical cirumstances.

Daniel was one of two dozen pupils taking part ina supervised swimming session at St John's Comprehensive School in Bishop Auckland last December. Initial reports suggest that he became "distressed"and had to be pulled from the water. Staff and paramedics fought to save him but he was declared dead shortly after arrival at Bishop Auckland General Hospital.

This time the alarm bells rang. The death of two fit and healthy children from the same family suggested an underlying underlying medical condition could be the cause. Home Office pathologist Dr Nigel Cooper ordered a full medical investigation and called in a national authority on sudden cardiac deaths, London-based Dr Mary Sheppard.

Dr Sheppard, a consultant histopathologist at the Royal Brompton heart hospital in London, suspected that the cause of death could be a rare heart defect known as Long QT Syndrome.

A fault of the electrical system which powers the heart, it can kill within seconds and can be triggered by external phenomenon such as cold water or loud noises. Crucially, the condition can be identified from an electrocardiogram but only if the person who interprets the scan has specialist knowledge in this area. It is usually treatable by giving patients betablocking drugs or, in some cases, implanting a electronic device to monitor the heart.

As part of the investigation, two other Readshaw children - Nicole, 12 and Rachel, seven - were examined and given ECG scans. Both were cleared of Long QT Syndrome. Tragically, their 10-year-old sister Catherine died of an unrelated illness - leukaemia - in June this year.

Influenced by Dr Sheppard's expert report, Dr Cooper concluded that Anne-Marie and Daniel were likely to have died of Long QT Syndrome triggered while swimming and recorded a verdict of death by natural causes.

The fact that Anne-Marie's death was simply put down to a swimming accident and not investigated as a suspicious cardiac case is a matter of great concern to the Readshaw family. They wonder whether Daniel would still be alive if a national system of screening suspected cardiac cases had been established. They also fear that other families could be going through the same trauma unnecessarily because of the lack of screening.

Kath Conroy feels strongly that changes are needed.

"We think what happened to our family is just the tip of the iceberg. We think there may be hundreds of families affected in this way. In some parts of America they are doing ECG tests on school children. We need to do some catching up in the UK,"she says.

After Tuesday's inquest, the children's grandfather, Joe Conroy, said GPs and families needed to know about conditions such as Long QT Syndrome so that any parent concerned about a child who faints or blacks out can be properly tested.

The family fears that many cases around the country are being missed because of the low level of awareness among front-line doctors. "If a 13-year-old girl faints, a doctor should get something done about it. Knowing what we do now, we can't accept that it is normal for a young teenage girl to faint. It may be a sign of something more serious,"says Mr Conroy.

The family is encouraged that their call for better screening and awareness of sudden cardiac death coincides with national moves to improve services.

Earlier this year, after a high-profile campaign by Stockton South Labour MP Dari Taylor for improved services for young people with arrythmia (a range of electrical heart disorders, including Long QT Syndrome), the Government agreed to set up a group headed by National Heart Director Dr Roger Boyle to consider how national guidelines on the treatment of such conditions can be modified.

Dari Taylor agreed to withdraw her Cardiac Risk in the Young (Screening) Bill after assurances from Public Health Minsiter Melanie Johnson. Her bill aimed to ensure that anyone showing symptoms of some cardiac diseases, or those who had a family history of them, would be referred to a specialist and would have introduced screening for relatives of anyone under 35 who died of such conditions, which kill an estimated 400 healthy young people every year and affect around 700,000 people who suffer from disturbance's in the heart's rhythm.

Alison Cox, founder and chief executive of the charity CRY (Cardiac Risk in the Young), worked closely with Dari Taylor on her campaign. She believes that many drowning deaths among young people are attributable to undiagnosed Long QT Syndrome.

"Our dream is to have every schoolchild tested by giving them an ECG and we are hoping to persuade the Government that this is the way forward.

"Dari's bill has had a buge impact. It is absolutely phenomenal what she has done. I had heard about the deaths of these two young people from the same County Durham family. It is exactly the kind of death that I deal with on a daily basis,"says Mrs Cox, whose charity estimates that eight people under 35 a week are dying through sudden cardiac death syndrome.

While Dr Mary Sheppard is keen to see an improvement in services for young people with heart rythmn problems, she takes a more pragmatic approach. "The ideal would be to screen schoolchildren with symptoms such as fainting, particularly after taking exercise, but you can't screen everybod. It is not financially or practically viable."

Dr Sheppard, who sits on the panel of experts appointed by the Department of Health to look at a new section to the National Service Framework Chapter on Arrhythmias and Sudden Cardiac Death, says it is equally as important to overhaul the way in which investigations are carried out following the sudden deaths of young, fit people.

"We need a properly funded referral system so pathologists throughout the country can refer sudden death cases to an expert group of pathologists,"says Dr Sheppard.

Currently the system is unfunded and pathologists who call on Dr Sheppard's expertise in interpreting ECG readings have to rely on her goodwill. The Department of Health does not accept the argument for general screening for arrythmia problems due to "insufficient evidence".

But a Department of Health spokeswoman said the aim was to publish a new chapter on the screening and treatment of arrhythmias and sudden cardiac death by the end of March 2005.

A public consultation on what is to be included in the new chapter closed in August and the expert group, including Dr Sheppard, will meet for the first time next month.

Joe Conroy is encouraged by all this activity. "I hope something does come of it. Anything is better than the situation which exists at the moment. All this publicity must help,"he says.

* Cardiac Risk in the Young (CRY) can be contacted by ringing 01737 363 222 or emailing on cry@c-r-y.org.uk