Health
A couple who lost four children trying to become parents on a genetic testing mission
A Sydney couple, who lost four children to a genetic disorder, received $20 million from the federal government for genetic testing of their parents.
Rachel and Johnny Casera lost Hope, Leo, and Bella at various stages of pregnancy, and Mackenzie was born with spinal muscular atrophy and died 7 months and 11 days later.
Find out more in the video above
After McKenzie’s diagnosis, the couple discovered that they were both carriers of the gene for the condition, but were not informed of the risk and provided no opportunity to test it.
“I may be biased, but I’m sure she was the most beautiful girl in the world,” Rachel said Weekend sunrise..
“She had this ability to illuminate the room, she could have a full conversation with just her eyes, she was incredible.”
Simple test
A simple screen reveals that Rachael and Jonny had the disease gene.
“This is a simple swab. It’s very easy to test in your own house,” says Johnny.
“We were very shocked and very disappointed when we found out that this was something that existed and was not offered to families in Australia and around the world.”
The couple began their mission at Mackenzie to raise awareness and increase access to genetic screening.
“Mackenzie’s mission is to scan over 700 different genetic conditions,” Johnny said.
“We are not talking about baby eye color, hair color or height choice.
“We are talking about a lethal or extremely life-limiting recessive genetic disorder,” he said.
A mission born from a broken heart
There’s not much you can do for Mackenzie, but Rachel and Johnny want to be able to help other couples.
“We really want more tests for Australian couples to eliminate this pain and sadness we had to experience-we don’t want it for anyone.” Said Johnny.
Of the $500 million announced for the Australian Genomics Health Futures mission, $20 million was allocated to Mackenzie’s mission.
This pilot study of preconception screening tests will test 10,000 couples over the next 2-3 years.
Rachel recorded her ups and downs blog And her new book Mackenzie’s mission, This is out now.
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