It’s free and essential for planning a pregnancy, but few know this test exists

If both parents carry the gene for a recessive condition, their child has a 1 in 4 chance of being affected.

“Once you have a child that has mito , they’re going to suffer,” she said. “The best we could do for Cooper was to refuse to set his limits ... and provide him with experiences and opportunities to champion him to his fullest potential.” Tests for three of the most common and serious genetic conditions – cystic fibrosis, spinal muscular atrophy and fragile X syndrome – will all be eligible for bulk-billing from Wednesday, and rebates will also become available for genetic testing to diagnose mitochondrial disease .

Rachael and Jonathan Casella with their boys Izaac and Joshua , and a photo of their daughter Mackenzie who was born with spinal muscular atrophy and died just seven months later.“If a person can’t afford to pay for a screening test, they are the least likely to be able to afford a cystic fibrosis-affected child,” she said. “Every GP should be aware of it and should be offering this to their patients.

“I do wish that I could have clicked my fingers and made it happen overnight, but I’m really thankful for the fact that people actually listened to what we were campaigning for,” she said. “What happened to us could happen to anyone – it really just depends on who you get together with.”

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