Rebates will also be available for genetic testing to diagnose mitochondrial disease, reducing the need for painful muscle biopsies<\/li>\n<\/ul>\nSix months and one day. That is all the time Elizabeth Tierney had to spend with her \u201ccheeky and curious\u201d son, Cooper, who was diagnosed with a rare and degenerative mitochondrial condition at three weeks old.<\/p>\n
\u201cOnce you have a child that has mito (mitochondrial disease), they\u2019re going to suffer,\u201d she said. \u201cThe 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.\u201d<\/p>\n
![](\"https:\/\/static.ffx.io\/images\/$zoom_0.118%2C$multiply_0.7725%2C$ratio_1.5%2C$width_756%2C$x_0%2C$y_24\/t_crop_custom\/q_86%2Cf_auto\/40b5e21394958ee8a3e0a1d24240d2741dd4d78a\")
<\/p>\n
Elizabeth Tierney with her sons, Beau and Zane, in front of a photo collection of her first son, Cooper, who died at 6 months old from mitochondrial disease.<\/span>Credit: <\/span>Janie Barrett<\/cite><\/p>\nA simple cheek swab would have identified Tierney and husband Robert as carriers of the gene causing Cooper\u2019s condition. However, their GP did not offer them the test because they had no family history of genetic conditions.<\/p>\n
Tierney hopes new Medicare rebates for carrier screening introduced on Wednesday will mean no other couple has to go through losing a child to discover their risk of passing on a rare condition.<\/p>\n
Tests for three of the most common and serious genetic conditions \u2013 cystic fibrosis, spinal muscular atrophy (SMA) and fragile X syndrome \u2013 will all be eligible for bulk-billing from Wednesday, and rebates will also become available for genetic testing to diagnose mitochondrial disease (a process often requiring a muscle biopsy).<\/p>\n
After Cooper\u2019s death, Tierney and her husband received comprehensive testing before and during pregnancy that ensured Cooper\u2019s brothers \u2013 Beau and Zane \u2013 were born healthy.<\/p>\n
\u201cIt can be really scary to think you might uncover something your family might have.\u201d<\/p>\n
She urged all would-be parents to ask their GP about the tests.<\/p>\n
\u201cIt can be really scary to think you might uncover something that your family might have,\u201d Tierney said. \u201cBut once you go through something like this, you know that having that information can really be something positive.\u201d<\/p>\n
Couples were previously eligible for free carrier screening only if they had a family history of a serious and life-threatening condition. Otherwise, tests could cost between $300 and $2500.<\/p>\n
Dr Zoe Case, a family planning GP at Bondi Junction Medical Centre in Sydney, said it was essential that all GPs became familiar with what was available to parents.<\/p>\n
![](\"https:\/\/static.ffx.io\/images\/$zoom_0.095%2C$multiply_0.7725%2C$ratio_1.5%2C$width_756%2C$x_4%2C$y_0\/t_crop_custom\/q_86%2Cf_auto\/13dc4d87d5ed924173b923d73d42664c840461bf\")
<\/p>\n
Rachael and Jonathan Casella with their boys Izaac (two) and Joshua (10 months), and a photo of their daughter Mackenzie who was born with spinal muscular atrophy and died just seven months later.<\/span>Credit: <\/span>Wolter Peeters<\/cite><\/p>\n\u201cIf a person can\u2019t afford to pay for a screening test, they are the least likely to be able to afford a cystic fibrosis-affected child,\u201d she said. \u201cEvery GP should be aware of it and should be offering this to their patients.\u201d<\/p>\n
The new rebates are the result of a five-year, $20 million research project dubbed Mackenzie\u2019s Mission after Rachael and Jonathan Casella\u2019s daughter, Mackenzie, who was diagnosed with spinal muscular atrophy shortly after birth and died in October 2017 at just seven months old.<\/p>\n
Rachael Casella said she felt \u201cimmense pride\u201d in what had been achieved in Mackenzie\u2019s name, but she would continue to campaign for hundreds more rare and life-threatening conditions to be added to the list.<\/p>\n
\u201cI do wish that I could have clicked my fingers and made it happen overnight, but I\u2019m really thankful for the fact that people actually listened to what we were campaigning for,\u201d she said. \u201cWhat happened to us could happen to anyone \u2013 it really just depends on who you get together with.\u201d<\/p>\n
The Mackenzie\u2019s Mission study estimated one in 50 couples are at risk of passing a serious genetic condition onto their children.<\/p>\n
On average, every person carries between three and five recessive genes that may lead to a rare genetic condition.<\/p>\n
If a couple carries the same trait-causing version of the gene, their child has a one-in-four chance of being affected by the condition.<\/p>\n
Federal Health Minister Mark Butler said many children with genetic conditions were born to families with no history of disease, and the $148.5 million investment would \u201cprovide confidence to women and their partners as they plan a pregnancy and start a family\u201d.<\/p>\n
Start the day with a summary of the day\u2019s most important and interesting stories, analysis and insights. Sign up for our Morning Edition newsletter.<\/i><\/b><\/p>\nMost Viewed in National<\/h2>\nFrom our partners<\/h3>\n
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