Running for Noah: Taking on the Sydney Marathon to support Fanconi anaemia research

When Oona lines up for the Sydney Marathon this August, every one of the 42 kilometres she runs will be for her nephew Noah and every other child living with Fanconi anaemia.

Oona is aiming to raise $21,000 through the challenge, with funds supporting both Fanconi Anaemia Support Australasia (FASA) and research at SVI. Her goal is to raise $500 for every kilometre of the gruelling 42 km course, helping fund research that is giving families affected by this rare inherited condition new hope.

For Noah’s parents, Franca and Elijah, that hope has already changed their lives.

A long search for answers

Noah’s path to diagnosis was long and uncertain. Although Franca raised concerns within weeks of his birth, it took months of specialist appointments, extensive genetic testing and persistent advocacy before Noah was diagnosed with Fanconi anaemia. Even then, doctors were unable to identify the specific genetic change responsible.

That was when Associate Professor Wayne Crismani, Head of DNA Repair and Recombination at SVI, became part of Noah’s journey.

Working closely with Noah’s clinical team over several years, Wayne and his colleagues continued searching for answers after conventional testing had reached its limits. Through advanced genetic testing, made possible by research funding and donations, the team ultimately identified Noah’s previously unknown genetic variant which causes his Fanconi anaemia.

For Franca, the discovery was life changing.

“For so long, we didn’t have all the answers about Noah’s condition. Identifying the causal genetic variant has given us a much clearer understanding of his disease and what it means for our family,” she said.

“It’s allowed us to understand whether other family members carry the same genetic variant, and given us hope that future families won’t face the same uncertainty we did.”

The power of finding answers

Franca says her family has witnessed firsthand how research is transforming the outlook for people living with Fanconi anaemia.

“Having lost family members to this condition in the 1980s, we’ve seen how devastating Fanconi anaemia can be and how limited the treatment options once were,” she said.

“Every new discovery brings greater understanding, earlier diagnoses, more personalised care and renewed hope for families like ours. Behind every research breakthrough is a family whose future has been changed for the better.”

Running for families like Noah’s

Today, Noah’s story is inspiring others to get involved.

As an occupational therapist and devoted aunt, Oona is taking on the Sydney Marathon to raise both funds and awareness for Fanconi anaemia. Every donation will help support families through FASA while also helping researchers at SVI continue their work to better understand the disease and develop improved approaches to diagnosis and treatment.

For Franca, the goal is simple.

“Our greatest hope is that continued research will one day lead to a cure for Fanconi anaemia so that no family has to experience the uncertainty, fear and heartbreak that comes with this diagnosis,” she said.

“We are so grateful to Wayne, his team at SVI and the many researchers around the world dedicated to Fanconi anaemia. Their passion, persistence and unwavering commitment continue to give families like ours hope for a future where Fanconi anaemia no longer defines a child’s life.”