KEY POINTS:
Another heartbroken parent has spoken out about scandalous delays in diagnosing cases of unexplained deaths in children.
The Herald on Sunday last week reported the distress faced by a Feilding family told they could have a wait of three months for the results of toxicology tests after the unexpected death of their 11-year-old son, Danyon Westwood.
Now Janet and Neville White, also from Feilding, have revealed three-and-a-half years of similar anguish.
Their son, Caleb, was almost four when Janet found him dead in his bed. Like the Westwoods, an autopsy found only that the little boy had died of "obscure natural causes", a term used to describe a range of conditions including heart rhythm problems.
Also like the Westwoods, the Whites have other children - sons aged 18, 15, 12, and 2 - and are terrified that whatever killed Caleb was genetic.
They began asking questions.
"Initially I didn't know they could do further tests," Janet White said. "We weren't told anything. But a fortnight later, because we really wanted to know, I asked a health worker at Palmerston North Hospital if there was anything else that could be done. And that's when I found out they could do more."
But while specimens had been taken from Caleb during the autopsy, they were deemed unsuitable for testing for long QT (LQT) syndrome, the most commonly inherited heart defect. DNA from Caleb's heel prick (a test done on newborns) had to be used instead.
Last October, after a plea to local MP Simon Power, the family was advised there were long delays in testing, largely because of staffing and funding problems - the tests are not subsidised - and the work was being done overseas. It was likely to be another six to nine months before Caleb's results were back, they were told.
They are still waiting.
"We are just so angry," Janet said. "Every morning since Caleb died, I wake up and wonder if the other boys are going to be alive. And if I go in and they are on their tummies... I panic. So far, the other kids have only had ECG tests because it's pointless doing other tests when they don't know what they should be tested for. And we've been told that even if the ECG doesn't show anything, it doesn't mean there isn't a genetic link, which isn't very helpful. It still tells us nothing."
She said Danyon's death has particularly affected her 12-year-old son Tyler, who attends the same intermediate school.
It was scandalous that screening for LQT was not routine in cases of unexplained death, she said.
"And to tell the Westwoods they would only have a three-month wait, when they may have to go through all this as well, is just not fair."
Dr Jon Skinner, a leading cardiolgist, who also heads the Cardiac Inherited Disease Group, recently set up to moniter sudden deaths in the young, said he had enormous sympathy for families like the Whites, but genetic testing was detailed and expensive. He has been calling for routine screening for years.
The screening that was done was done "by grace and favour" because there was no publicly funded service. That, combined with a lack of qualified lab staff, meant much of it had to be done overseas, he said.
"We hope that in the fullness of time there will be a properly funded service for all this. In the meantime, we just have to box on."
Dr Sandy Dawson, chief clinical adviser at the Ministry of Health, said using genetic tests in cases of unexplained sudden death as the first step to identifying hereditary links was still at the research stage.
Health boards can choose to fund the tests - Capital and Coast Health sends samples for analysis to Italy at a cost of around $2500 each - in the same way they fund other specialised laboratory tests for "rare" conditions.
"As with all screening programmes, tests must be accurate, and not all laboratories can undertake these tests. Where New Zealand laboratories do not have staff or resources, it is appropriate to source [them] overseas," he said.
Overseas data suggests LQTS is three times more common in the US, where 1000 children die from it each year, than childhood leukaemia. It is implicated in about 80 to 100 unexpected deaths in the young in New Zealand annually.
