What change must come from these parents’ darkest hour

There are few experiences harder to fathom than a parent losing a child in an unexpected and unexplained way.

In their darkest hour, parents must navigate the coronial system where, for all the care and professionalism they may encounter, they must answer difficult questions and make what must seem like impossible choices. All while their hearts are broken.

As Frances Howe reports today, about 40 per cent of all deaths for people under the age of 20 are listed as unascertained after an autopsy. In more than a quarter of cases (27 per cent), unexplained sudden cardiac deaths in young people involved relevant genetic mutations.

Two such children were Sonny and Airlie Green. Sonny died aged nine months; he carried a rare mutation of a gene known as PPA2, which can cause sudden cardiac death. This was not discovered until after his death, when his sister had become ill at five months old. Airlie had the same mutation and died aged 18 months, leaving parents Danielle and Leon Green crushed.

A year on, Danielle Green is leading the charge to make genetic testing a routine part of all post-mortem examinations in unexplained deaths for everyone aged under 20 years. This is not simply about offering heartbroken parents closure, although Green does wonder how many families “who are beating themselves up every single day” would find comfort in having an answer to how their little ones died.

The campaign is also about preventing future tragedies. Nearly 90 per cent of couples at risk of having a child with a genetic condition have no prior family history of the disorder.

Professor Gina Ravenscroft, a rare disease genetics expert at the Harry Perkins Institute of Medical Research and University of Western Australia, says testing would help enable earlier medical interventions, guide family planning and reduce parents’ “uncertainty and emotional trauma”.

Genetic testing is not a mandatory component of coronial investigations into unexplained deaths in any Australian state or territory. Each jurisdiction has its own triggers; Ravenscroft recommends a consistent national approach.

NSW Attorney-General Michael Daley says a coroner can order genetic testing based on advice from NSW Health Forensic Medicine, and the government was “always considering ways the coronial process can be improved to provide answers to grieving families”. This is an idea well worth considering.

Green is not alone in her quest. The Coroners Project also has co-founder Rachael Casella, whose daughter Mackenzie died of spinal muscular atrophy (SMA) at seven months old. This inspired Mackenzie’s Mission, a study that screened 9107 couples for 1300 genes linked to more than 750 rare childhood-onset diseases. Casella’s campaigning also made tests for three common and serious genetic conditions – cystic fibrosis, SMA and fragile X syndrome – eligible for bulk-billing under Medicare.

As the technology becomes better and cheaper, the argument for making genetic testing mandatory in such cases becomes only more compelling. Sonny and Airlie Green may have had brief and tragic lives, but their legacy may yet prove powerful.

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