Did you know that 1 in 20 Aussie kids are born with a genetic disease or birth defect? That’s one in every classroom!
This August, I’m taking on the Ks for Kids challenge - running to raise funds for Children’s Medical Research Institute, supporting scientists who are working today to find cures for tomorrow.
Finn's Story:
At 26 weeks in utero it was flagged that Finn's limbs weren't growing proportionately to the rest of his body - both his femur and humerus tracking under the 1st centile. Along with abnormal cord doppler readings and slow growth it meant that he had to be delivered at 36 weeks.
At 3 days old he was sent in for a full body xray, brain ultrasound and blood test to rule out genetic abnormalities such as dwarfism and skeletal dysplasia.
By 12 weeks we had met with our local paed. and had a referral to a geneticist to start the process of identifying Finn's rare genetic condition.
Poked and prodded, he's been a trooper attending endless medical appointments and therapies to ensure he's meeting basic milestones and continuing to grow.
At almost 2.5 years, we are still waiting for answers as he's left undiagnosed due to inconclusive exome sequencing results.
Finn has recently been accepted to partake in a Genomic Sequencing study kicking off in September 2025. A global group of clinicians, scientists and developers will be researching into his DNA - hoping for a diagnosis which will shed some light on what Finn's future may look like.
Finn is one of 350 million left undiagnosed.
Your donation will help keep labs running, research advancing, and hope alive for kids who need it most!!
Every step I take is for them. Your donation will help me go the distance and fund vital research!
Every step I take is for them. Your donation will help me go the distance and fund vital research!
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