Revolutionising rare disease diagnoses

Posted May 23, 2024
Revolutionising rare disease diagnoses

From birth, Bayleigh has faced numerous health challenges: sudden episodes of not breathing, extreme fatigue, fragile bones that fracture easily, and a stature much smaller than her peers.

Despite a long list of specialist appointments and a series of surgeries—brain, dental, eye, and hip— the 12-year-old is yet to find a diagnosis.

“Bailey has had her case sent to America, the Netherlands, Sydney, and her blood tests are currently over in Melbourne,” her mum Jess Ackerman-Davids said. “I have been fighting since birth for answers.”

Bayleigh’s story represents many children in Western Australia who battle rare and undiagnosed conditions and have been waiting years for answers. But this is about to change. Telethon is funding a revolutionary new program to help diagnose rare conditions faster, right here in WA.

Bayleigh has had countless specialist appointments and surgeries and is still yet to find a diagnosis.

Through a new partnership with North Metropolitan Health Services and Pathwest, with significant funding from Telethon, a ground-breaking diagnostic test featuring the new NovaSeq machine – a state-of-the-art whole genomic sequencer – is being launched in Western Australia.

For the first time, clinically accredited whole genome sequencing will be available locally, sparing families the need to send samples interstate and overseas, enduring long waits.

This life-changing technology, including five years of operational costs, will be accessible to WA families thanks to Telethon, and the generosity of the WA community. This initiative is a game-changer, placing Western Australia at the forefront of genomic testing in Australia.

Melanie Martin Molecular Technical Coordinator with new Geonomic Sequencer

The new service will not only enhance diagnostic capabilities but also provide crucial support, including a genetic pathologist, clinical geneticist, and genetic counsellor, ensuring comprehensive care for families navigating these challenging journeys.

For families like Bayleigh’s, this means access to cutting-edge genomic testing close to home, significantly reducing both the financial burden and the emotional strain. Answers also bring these families closure and a community that can help and support them along the journey.

“This machine will make a world of difference. Having access to fast and accurate testing here in Perth means we can finally start finding the answers we’ve been searching for,” mum Jess Ackerman-Davids said.

Although Bayleigh’s hunt for answers is well underway, the brave and cheerful “walking medical mystery” hopes that kids and families just like her have the opportunity and hope of a brighter, healthier future here in Western Australia.