Queensland researchers have been pushing for myasthenia gravis (MG), a rare disease that causes muscle weakness and affects about 2,000 Australians, to be better understood by patients and other members of the public.
Patients used to die within two years of contracting the auto-immune disease, but since the 1930s, doctors have been able to treat it with medication.
Alison Nash, 23, from Hastings in Victoria, was diagnosed in 2011 and takes 26 tablets a day along with monthly infusions.
“I can barely go for a walk now,” she said.
“My job is restricted, driving is restricted, obviously going out with friends, my social life, has been cut back dramatically.”
Disease has no known cure
Brisbane neurologist Doctor Stefan Blum said although therapy was available, there was no known cure.
“The brain knows what it wants to do – the nerve works, but the link between nerve and muscle is disrupted,” he said.
“It can range in severity from very mildly affected patients who’ve got just a mild drooping of the eyelid or some double vision, to severely affected patients who are in intensive care unit, intubated, fed through a gastric tube, and completely unable to move any muscle of their body.”
The Journal of Clinical Neurosciences recently published the results of a survey conducted by the Royal Brisbane and Women’s Hospital and the University of Queensland.
It found more than half of the respondents suffered other immune-related diseases and their quality of life was poorer with depression common.
Nearly 40 per cent no longer worked and more than half required government support.
Dr Blum said researchers wanted greater awareness of the disease.
“We don’t know if certain interventions help or not and to what degree,” he said.
“There’s still a lot of work to be done to understand this illness better.”
Book of personal accounts set for release
Myasthenia Gravis Association (MGA) spokeswoman Susan White said misdiagnosis was common with the group hoping better awareness would see sufferers accurately diagnosed sooner.
“When you’re talking about DNA research, we understand the broader the database, the more effective that will be,” she said.
Ms White said the MGA, which has been running for 23 years on a volunteer basis, would also release a book of personal accounts of living with the disease at its national conference.
“We hope it will support people affected. It will help the families to understand how they can be helpful,” she said.
Ms Nash is one whose personal journey is documented in the book.
“[To help people] know that there is hope, know that they’re not alone, and with the bad days come the good days,” she said.
“Hopefully, the more help we can get, there might be a cure one day.”