Our son Joshua was born with a genetic condition called Tuberous Sclerosis Complex. As part of managing that condition, he has had MRI scans every one to two years since birth. It was during one of those routine scans that doctors detected what was believed to be a chordoma. Because Joshua has a disability related to his genetic condition, we likely would not have recognised any symptoms until the chordoma had progressed much further. In many ways, that routine MRI changed the course of his journey.
One of the biggest challenges was the time it took to access specialist care. In Western Australia's public health system, appointments with neurologists can take a long time, and private neurologists either had waiting lists of more than a year or were no longer accepting patients. I read Joshua's MRI report myself and saw the possible diagnosis, but it was a long wait before we could discuss it with his neurologist, followed by another two months before we met with the neurosurgeon. After that appointment, we were told to wait another three months before repeating the MRI to see whether the tumour was growing before any treatment decisions would be made.
During that time, we began doing our own research and found the Chordoma Foundation and the Oz Chordoma Warriors Facebook group. The information and support they provided were invaluable and helped us understand what the best treatment options might be.
After learning that the initial treatment for chordoma is critical and that surgery should ideally be performed by an experienced chordoma surgeon, we made the decision to travel to Stanford Medical Center in California. Joshua's surgery was successful, and the team at Stanford were incredible. Although travelling overseas for treatment was the right decision for him, it was also emotionally and financially challenging. Being so far from home without the support of family and friends was difficult, and the cost of travelling to the United States has had a significant impact on our savings and our future financial plans.
Joshua has lived with health challenges since birth, so this diagnosis added another layer of uncertainty for our family. The worry about his future is something we carry every day.
Research is incredibly important because people with rare cancers deserve better treatment options and better outcomes. It also gives specialists access to the latest evidence so they can guide patients through difficult decisions. Too often, families have to undertake extensive research themselves to find the information they need. I hope continued investment in research will lead to advances in immunotherapy and targeted treatments, giving Australians diagnosed with chordoma more options and more hope for the future.