Parramatta welcomed the first national conference for Ehlers-Danlos Syndrome (EDS) on July 19 and 20, a debilitating disorder causing fragile joints, skin and muscles.
The three day event filled Novotel Parramatta’s Lennox room with almost 300 patients and professionals, many of whom classify EDS and other Connective Tissue Disorders (CTD) as an unrecognised, “invisible illness.”
ConnecTeD Foundation Vice President, Adam Heaney said the conference was “unbelievably important because there are a lack of services in Australia, there's a lack of information, it's very commonly misdiagnosed. Doctors don't believe that some of the problems and symptoms with these conditions exist.”
EDS sufferer Sam Caldwell recalled similar experiences, adding that her parents spent five years searching for answers before geneticist and speaker, Professor David Sillence finally diagnosed her.
“People think you're just making it up...that you're just doing it for attention, I think people need to know that we're not. That it does happen to a lot of people," she added.
EDS negatively affects the connective tissues that bind together skin, ligaments and bones in the body, Professor Sillence said.
Sufferers often possess symptoms such as hypermobile joints, chronic-fatigue, easy-bruising and abnormal scarring, to more severe symptoms, such as weak blood vessels, organ-rupture and spinal-scoliosis.
In spite of these symptoms, a patient’s appearance is often left unaffected, hence “invisible illness.”
This is said to be the cause of difficulty and misdiagnosis among Australians seeking information from practitioners.
Luckily for sufferers, the conference is a step in the right direction in raising awareness. In her presentation, Natasha Haynes spoke about how glad she was to see health professionals at the conference, further validating the syndrome’s existence.
She also spoke of the psychological suffering that occurred when she was constantly referred to other specialists by doctors who weren’t aware of EDS, a phenomenon another presenter called “doctor-hopping.”
Adding to the frustration, newly diagnosed Dominique Bremner spent $17, 000 on medical bills last year with little progress before finally being diagnosed.
Perth wife, mother and grandmother of EDS patients, Camille Sergeant suggested that our health system provide a universal documentation system containing information regarding diseases and syndromes, such as CTDs, that any doctor can access.
“The patient doesn’t have to be the expert anymore; they just need to refer the doctor to the website,” she said.
“A diagnosis is just words on paper if a health professional doesn’t know what it means,” Ms Haynes said.
Mr Heaney stated that he hopes that the conference acted as a resource for attendees to take back to their GPs around Australia and show that EDS maybe invisible, but is very real.
Also speaking at the event were a range of experts associated with EDS, including physiotherapists, cardiologists, gastroenterologists, and US geneticist and EDS author, Dr Brad Tinkle.