Transcript

I'd love to share with you a story, a story about a gift, a gift that keeps on giving, a gift from one of the most remote places in the world, in the western desert of Western Australia, a gift, a gift from three remarkable Aboriginal children, who each in turn were born with a devastating condition, a condition affecting their hearts, their brains, their breathing, their learning. They then ultimately went on to develop intellectual disability and seizures. A gift that transverses time and transverses our planet.

These three children unlocked incredible medical insights. They were discovered to have a rare condition, a glitch into a change in a single chemical in a single gene, a gene called MTOR. This change made the gene work way too much. It was overactive and that caused chaos throughout their bodies.

When we first found this gene change, there was no map. There was no map to compare this gene change against for Aboriginal people, to know whether or not this was an abnormal gene change.

So then we had to go on a remarkable journey. We searched all over the world to find people that could prove whether or not this gene change was in fact the cause of these children's condition.

After circling the world, we kind of landed in our backyard. We landed on our own country with an immunology lab. They proved that that gene in fact did work far too much in experiments in cells in the laboratory. But much more importantly, they also showed that if we gave a commonly used medicine, a cheap medicine with a known side effect profile, that we could reverse the effect of that faulty gene in those cells.

Suddenly, we not only knew definitively what the cause of this children's condition was but we immediately had an option for their treatment using an existing drug, something we could take off the shelf. We didn't need to go through a billion dollars and 20 years of drug development. We could use that right now.

This condition ultimately came to be known as Smith‑Kingsmore Syndrome.

With the permission of the family, we published this information to see if there are other families around the world. And then a chain reaction of events occurred as others were diagnosed around the world, a bit like cousins around the world for these Aboriginal children.

Then there were new insights. In Germany, two siblings were identified with the condition, teenagers. And they had bowel polyps. That's very unusual in teenagers. Bowel polyps are the precursor of bowel cancer.

So, suddenly, we didn't potentially only have a treatment for seizures, intellectual disability, but also potentially bowel cancer. Again, something that was off the shelf.

Not only does this gift give internationally, it gave locally to our community in Western Australia. We solved this medical mystery using genomic sequencing back in 2013. It was the first time we had used that as a clinical test. That then gave our health system and it gave the Aboriginal communities the trust and the confidence to be able to do that more. It set up our Rare and Undiagnosed Diseases Diagnostic Service and, ultimately, what became the Undiagnosed Diseases Program.

The gift keeps on giving, because that Aboriginal family taught us how to provide the best medical care, how to embrace Aboriginal ways of knowing, being and belonging to help everybody.

We then took those principles to design how we provided care coordination for people with rare and undiagnosed diseases, care coordination across all of what it means to live a life in children, be it health, education, disability and social services.

So, to that Aboriginal family, to those three children, those incredible, vulnerable, special, powerful children from one of the remotest corners of the earth.

Thank you.