Rachael Casella and her husband Jonathan didn’t know they both carry the gene for spinal muscular atrophy. They found out when their beloved daughter Mackenzie was diagnosed with the terminal condition at 10 weeks old. She died about five months later. “We had a beautiful life with her and we’re thankful for every minute,” Casella told AAP. “But we had to watch our little girl die and we wanted to know why.
“When you put a Medicare item number in and you take away that barrier of cost of testing, what we hope we’ll see is that people from all over Australia will be in a position to access that testing.” An organisation called Lumi Health is also making the tests as simple as a mouth swab that you can order online and have delivered to your door. The program is the brain-child of myDNA Australia, Victorian Clinical Genetic Services and the Murdoch Children’s Research Institute.
Source: News Formal (newsformal.com)
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