Justine had never thought much about genetic diseases until her granddaughter, Alexis, died of one at just 3 ½ days old.

“I’d never had a chance to meet her,” Justine says. “When I spoke to my daughter, Charlotte, on the phone and she told me ‘Lexy’s gone’, it was horrendous. I got from NSW to Melbourne as fast as I could. I had to be there for my daughter.”

When Justine reached the hospital, she saw her daughter holding Alexis’ body. “And Charlotte said something I will never forget: ‘Mum, look what I’ve done.’ I answered, ‘You’ve done nothing. You made a beautiful baby.’” Charlotte was blaming herself because she didn’t know the cause of Lexy’s death.

Despite issues with Charlotte’s health that arose during the pregnancy, everything seemed fine when Alexis was born, and they were discharged from hospital 24 hours later. Charlotte was an experienced mum with a healthy older daughter, and on Day 3, when she noticed Lexy was listless and not feeding, she began to worry.

Charlotte did everything right. She called health professionals and even took Lexy to the GP, but they all seemed to think that she was just an anxious mum, and no one recognised the seriousness of the situation. “But parents, know,” Justine says. “You’ve got to trust your instincts in that you know your own child.”

Charlotte took Alexis to hospital, 20 minutes away, but by the time she got there, Alexis wasn’t breathing. They rushed her into emergency and the doctors began resuscitation, but it was too late. Alexis’ father, Ian, arrived just in time to hear them pronounce the time of his daughter’s death.

“Both Charlotte and Ian were so young,” Justine says, “only 23, and I had to be strong for them. I made all the arrangements. I’d never planned a funeral before, and the last thing I’d expected was that I’d be planning one for my own granddaughter.”

“The beautiful lady from the Victorian Institute of Forensic Medicine (Coroner’s Department) rang later,” Justine says, “and asked if I’d heard of genetic metabolic disorders. I told her my grandson had MCAD [but he was fine and managed it with diet]. It seemed Alexis may have had VLCAD.” But there was no certainty, only the possibility.

The family made contact with Dr Boneh, who was head of the Newborn Screening Laboratory at Genetic Health Services, Victoria. He’d never seen such an early presentation of VLCAD in Australia, and all the screening tests they could do were inconclusive, so he sent DNA to a fellow researcher in Denmark for sequencing. They still couldn’t pinpoint the cause, but, in the end, the bulk of the evidence pointed to VLCAD and that was the diagnosis made.

“Dr Boneh pulled out all the stops to get the answers,” Justine says. “I wish we could have found the mutation, but I now know that genetics is such a necessary field. Genetic testing is needed so we can pre-empt another tragedy. I wouldn’t have thought about genetic diseases if it hadn’t impacted on my family.

“If research had not been done in the past, we wouldn’t have known about VLCAD at all. We would never have narrowed it down. It could have been allergy, a disease, who knows what? Genetic research gave us an answer so we could know ‘why’ and stop blaming ourselves.”

VLCAD deficiency is a genetic disease that’s believed to affect 1 in 40,000 children. It stands for Very long-chain acyl-CoA dehydrogenase deficiency and is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). The disease causes hypoglycaemia and can cause life-threatening heart problems. VLCAD is tested for in Australia using the heel prick (Guthrie) test on infants in hospital, but Alexis had such a severe form that she died before the test results could come in.

“Now we know we have VLCAD in the family we treat each new child and grandchild as though it has this disease.” That means they feed the baby every hour and then every three hours. No fasting allowed. Charlotte became pregnant again a few years after Alexis’ death, and the baby was treated as though she had VLCAD until they got the test results, which, fortunately, were clear.

“People don’t understand the odds,” Justine says. “They hear a child has a 1 in 4 chance of having the disease, but that doesn’t mean one child had it and the other three will be fine. When you have a genetic disease in the family it means you roll the dice each and every time, and it is roulette—Russian Roulette.”

If not for genetic research, they may never have known what caused Alexis’ death and been left wondering for the rest of their lives if it was their fault. No parent should be left to blame themselves. They deserve answers.

You can help support vital genetic research and raise awareness of genetic diseases by taking part this Jeans for Genes Day, Friday 7th August.