It’s hard for any of us to imagine the anguish of losing a child, let alone two children in as many years. One Baldivis family lived this nightmare scenario after both of their beautiful and seemingly healthy babies died suddenly at 9 and 18 months.
They have graciously shared their story to raise awareness of the importance of genetic testing and pre-pregnancy carrier screening.
Most people are healthy carriers of recessive disease mutations. On average, humans each carry one to two mutations that can cause severe genetic disorders or prenatal death when two copies of the same mutation are inherited.
If you happen to partner with someone who shares one of those recessive disease genes, you have a 1 in 4 chance that your child will be born with the associated disorder.
The mutation that robbed the Green family of nine-month-old Sonny and 18-month-old Airlie, is called PPA2. Perkins genetic researchers were among the first to study this disease gene and link it to sudden unexpected death in infancy.
In a healthy person, the PPA2 gene makes a protein that our cells use to generate energy. Drinking alcohol or catching a cold can trigger sudden cardiac death in carriers.
The PPA2 gene is one of 750 conditions that are tested during the pre-pregnancy carrier screening study called Mackenzies Mission. Perkins researchers led the study, with other experts, to investigate the best way to deliver a national reproductive genetic carrier screening program for all couples in Australia.
The study screened ~10,000 couples and gave prospective parents information about their likelihood of having a child with a severe genetic condition. The study aimed to demonstrate the importance of this type of screening, so that future carrier screening programs could be covered by Medicare. Otherwise, reproductive carrier screening costs WA couples around $850.
Perkins researchers in the Rare Disease Genetics and Functional Genomics Lab led by A/Professor Gina Ravenscroft and the Preventative Genetics team led by Professor Nigel Laing, are working hard to uncover new and undiscovered disease-causing genes to help families, like the Green family, desperately seeking answers.
