Illawarra woman Rebekah McAlinden hopes groundbreaking research showing the origins of anorexia nervosa appear to be partially genetic, may remove some of the stigma that she has made a "lifestyle choice".
"Obviously I even get frustrated with myself for being as I am and beat myself up for not just being able to be 'better' or to 'just eat normally' or to not think or behave as I do," Rebekah told the Mercury.
"So knowing there's genetic factors involved helps remove some of the blame game."
Head of the QIMR Berghofer genetic epidemiology laboratory Nick Martin said the research had taken six years and involved the story of 17,000 cases from around the world.
"We found unexpected links with metabolic function, which may explain why patients struggle to maintain a healthy weight, even after undergoing treatment, Professor Martin said.
"What we expected was to find genes that are clearly implicated in the psychiatric mental and health aspects of the disease, which is obviously important," he said.
"But what has taken us by surprise is finding that there seem to be very strong links with metabolism as well."
Keeli Cambourne, whose daughter Molly has also spent many years battling anorexia, said she hoped the study would change the language around any sort of mental illness, not just eating disorders. "It depends on who is actually going to read the research as to whether it will make a difference," Keeli said.
"It's not just the general public that sees mental illness as something you can just stop, hopefully it will change the way the general medical profession views it too.
"Remembering when Molly was first admitted to Westmead, at the very beginning even, the doctor there said to me, 'just go home and forget about her, this is not meant to be a holiday so they won't come back again'," she said.
"The thought was to scare them enough to start eating again. That was the guy who was a specialist in eating disorders."
For Molly, the research meant it was "nice to think people can see that we are not just doing it for the sake of it."
The results of the large-scale genome-wide association study have been published this week in the prestigious journal Nature Genetics.
Goal to recruit 100,000 anorexia nervosa cases
Australian scientists are hoping to attract people who are living with anorexia nervosa for the next stage of their study.
Researchers recruited 3000 Australians and New Zealanders who had lived with the chronic eating disorder to contribute DNA for the study of 16,992 anorexia cases from around the world.
The genetic information of people with lived experiences of the disorder was compared to DNA from 55,525 controls of European ancestry from 17 countries.
Professor Nicholas Martin, said it was a huge step forward in understanding the disorder.
"By showing the role genetics plays ... we should be able to remove any remaining stigma associated with the condition for patients and their families.
"Our goal is to recruit 100,000 anorexia nervosa cases internationally with appropriate controls, and to also broaden our search beyond anorexia nervosa to include other eating disorders such as bulimia and binge eating disorder."
The study found the genetic basis of anorexia nervosa overlapped with metabolic, lipid, and anthropometric traits, and that was not due to genetic effects that influence BMI.
Professor Martin is encouraging anyone who has lived with anorexia nervosa, bulimia or other eating disorders to sign up to the study and provide a saliva sample from which DNA can be extracted.
Visit the website edgi.qimr.edu.au, or phone 1800 257 179.
