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Support our researchers in fighting rare genetic diseases for kids like Olivia

1 in 20 Aussie kids are born with a rare genetic disease

Meet Olivia

Olivia is a smiley and bubbly five-year-old, but she’s fighting an extremely rare genetic condition which affects only one in 23 million people.

The first few years of life were extremely difficult for Olivia and her family as her condition remained a mystery. After countless tests and procedures, doctors at MCRI were able to use DNA sequencing to diagnose Olivia with Kleefstra Syndrome.

Olivia’s mother Kate felt that the diagnosis was like ‘finding a stray apostrophe in a dictionary - and it changed our world”. Olivia’s diagnosis has allowed her parents to plan for their family, birth an unaffected boy and provide Olivia with the best possible life through tailored care, education and support.

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