With her back to the door, Victoria Rodda opens the door of her home, her head tilted to one side and her fingers pressed against her ears.
It is only then that she can start her ultrasound.
“You can tell that there is something very wrong,” she says.
“But, of course, there’s also an underlying problem, which is that there’s not a lot of data to analyse.”
Dr David Harkins, from the University of Sydney, has researched the causes of Down Syndrome for many years.
Dr Harkings has conducted more than 400 such scans and has found that a wide range of issues, including poor sleep and anxiety, can be caused by the condition.
Dr Roddas own symptoms have improved in the past two years, thanks to regular physical therapy and her own efforts to improve her posture.
But she still has to be careful to keep her head on her shoulders, because of the risk of fall.
“It’s just a shame, because I think my symptoms are a bit overblown,” she admits.
“They’re not really what I need to be worried about.”
For the most part, Dr Harks’ findings are backed up by the research of other specialists.
“What you’ll see is that the majority of cases are actually not quite down syndrome, because they are more than 90 per cent of cases and some of those cases are probably not that much down syndrome,” Dr Halkins says.
But there are some people who are diagnosed with the condition, and they do have certain issues, and Dr Rurdas’ experience suggests they should be considered.
Dr Andrew Fenton, a consultant occupational therapist, has seen thousands of cases of Down syndrome.
He says it is common for people with Down syndrome to experience social difficulties, such as anxiety, depression and anxiety disorders.
“In some cases, the social difficulties can be very significant, and in some cases they can be so severe that they might require medical intervention,” Dr Fenton says.
However, he says the biggest challenges with treating Down syndrome in Australia are getting people to take responsibility for their symptoms.
“We’re in the position of saying, ‘Well, you know, there is a problem, but it’s just not the problem that you need to deal with’.” Dr Faimon says a key factor in treating Down Syndrome is understanding the disorder.
“There is no magic pill for people who have Down syndrome,” he says.
For example, it is not possible to diagnose Down syndrome on the basis of symptoms alone.
Instead, a person with Down Syndrome needs to be diagnosed by a doctor.
“When you have a diagnosis, then the treatment is very similar to what we’d recommend for other conditions that affect people of all ages,” Dr Roodas says.
There are a number of organisations that offer people with disabilities the chance to participate in the study, and it is a relatively new phenomenon in Australia.
But Dr Harkin says there is still a long way to go before everyone is fully aware of the role that their own symptoms play in their lives.
“The big challenge is that we’re still trying to understand how to intervene in the most effective way,” he adds.
“I’m not sure we’ve got to just put up with the problem for another 20 years.”
A key challenge is the lack of reliable data on Down syndrome Australia.
Dr David Roddacys case was referred to a specialist clinic, and the results were negative.
“A lot of people are going to be a bit sceptical about what they read about Down syndrome and what we do,” he tells 7.30.
“And that’s a shame.”