Monty Hui has long dreamed about swimming in his school swimming carnival.
But for an eight-year-old boy living with pontocerebellar hypoplasia, a rare disease that affects the development of the brain, it was no easy task.
“He had to have speech therapy to learn to close his mouth and to blow bubbles,” his mother Jess Hui told SBS News. “That was before he even went in the pool. But he was so committed to that goal.”
Monty recently achieved this goal, and says next year he hopes to swim again without a noodle.
For Ms Hui and her husband, Danny, the uncertainty of having a child living with a rare disease wasn’t eased by the diagnosis.
“It was a scary time. At the time they were trying to rule out a lot of things that it might be. Even having a diagnosis of pontocerebellar hypoplasia – it helped in some ways to have a name for it, but that uncertainty of what will come next,” Ms Hui said.
Approximately eight per cent of Australians live with a rare disease – around two million people in the country.
But they can often go misdiagnosed or undiagnosed, and are unable to get treatment due to a lack of awareness about the conditions.
This Rare Disease Day, Nicole Millis CEO of Rare Voices Australia, an advocacy group, is calling for more awareness among governments, policy makers and the broader community.
“Our health system isn’t geared for rare diseases,” she told SBS News. “It works really well for diseases that are common. But for rare diseases it can be quite tricky and overwhelming.”
“I think one of the hardest things about rare disease is you are constantly living with uncertainty. Often when you are diagnosed you haven’t heard of it, and your doctors haven’t heard of it as well.
“It’s really quite overwhelming. You don’t know who to go and see, you don’t know what to do.”
Ms Millis, who herself is a parent of a child with a rare disease, says finding and building a sense of community among those with rare diseases is a hugely important step.
“It’s common for people to go years and years without a diagnosis. It’s really important to get a diagnosis. It’s important to get treatment, but also so you can connect with other people who have similar or the same disease to get a sense of community, because living with a rare disease can be really isolating,” she said.
There are around 7,000 different diseases commonly called rare diseases. Ms Millis says while the symptoms often vary greatly, many of the experiences of those living with rare diseases – such as misdiagnosis and having to explain your condition all the time – are the same.
“When you live with a rare disease you are learning all the time, but also educating others all the time,” she said.
Associate Professor Kim Hemsley is a research scientist at Flinders University looking at Sanfilippo syndrome, a rare genetic condition that causes fatal brain damage and is a type of childhood dementia.
Professor Hemsley said while the condition is rare childhood dementia affects around one in 2,800 babies. Those with Sanfilippo syndrome, which is currently untreatable, rarely live to adulthood.
“Given the devastating nature of the disorders, it’s absolutely imperative that the research on these conditions is better funded and there is greater awareness of the impact of rare conditions on families and society,” she said.
