Rhiannen Sugars wants people to know that February 28 is Rare Disease Day, a relatively new way of raising awareness of the many complex and mysterious medical conditions that each affect the lives of a small number of people.
A little under two years ago, the horse-mad, 24-year-old UC student was diagnosed with Ehlers-Danlos Syndrome (EDS), a connective tissue disorder with a long list of painful and debilitating symptoms including extremely loose joints, weakness and chronic fatigue.
Before that, all she and her family knew was that something was clearly wrong with her body, to the point where even walking was becoming difficult.
“When I was diagnosed a few years ago, my body was in crisis,” she says. “The condition had gone undiagnosed so it was basically out of control. For a while I was walking on crutches and I came very close to being in a wheelchair, because I was getting so unsteady on my feet it was getting dangerous.”
The diagnosis was a major turning point for Rhiannen that allowed her to start rebuilding the strength in her weak muscles and joints, and came from a stroke of luck that demonstrates how greater awareness helps people with rare conditions.
Her friend Dr Jacqui Desovski, in her final year of medicine at the time, saw a patient with EDS and noticed striking parallels with Rhiannen’s symptoms. Luckily, this happened just before she went to see geneticist Dr Mary-Lousie Freckman, who followed up the lead and confirmed it was indeed EDS, hypermobility type.
“In two years I’ve come a long way,” says Rhiannen. “It’s been a lot of hard work but each day you see improvements.”
After working on her strength through conventional physical therapy, she is now able to manage the condition herself. Fortunately, these days she can do that mainly by indulging her passion for horse riding. It’s an activity that gently exercises her muscles while her upper body is supported by the sturdy back of her mount, Chief, a resident of Forest Park Riding School in Curtin.
“Basically, horse riding is the reason I can still walk,” she says. “It’s really good that I can make [physical therapy] fun. When I’m working with Chief in the arena I’m not really doing physical therapy; I’m just riding. And even though I’m working a whole lot of muscles at once, it’s not as noticeable.”
Added together, there are more than 6000 rare conditions affecting about 10 per cent of any given population, according to Rare Disease Day organisers, amounting to more than 2.2 million Australians. This year’s theme is “Disorders without Borders”, which aims to foster international collaboration.