When Professor Tracy Dudding-Byth began working on rare diseases, she couldn't understand why they weren't a research priority.
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Her shared mission to change this was a great success, leading to her being honoured as a Member of the Order of Australia.
Professor Dudding-Byth, of University of Newcastle, said the Australia Day honour made her feel "proud and humbled".
As a conjoint professor, she is also a clinical geneticist with Hunter New England Health.
"It is the parents and families of my patients who are most inspiring to me," she said.
As mother of Grace, who has a rare condition, her mission was also personal.
She joined with two mothers of children with rare conditions to establish Rare Voices Australia in 2012.
"I vividly recall the three of us meeting to brainstorm our mission statement," she said.
They set a long-term goal for a national rare disease plan. They wanted rare diseases to be seen as a health priority.
In the years ahead, the organisation lobbied federal parliament on the issue.
"We doggedly persisted and kept lobbying," she said.
In 2020, then health minister Greg Hunt announced $3.3 million for the first National Strategic Action Plan for Rare Diseases.
Compared to a decade ago, the National Medical Health Research Council now allocates more government funding to rare disease research.
"It was an amazing outcome. It has been a privilege to work with other mothers to advocate for this," Professor Dudding-Byth said.
"Ongoing research in rare diseases is now possible."
Rare diseases, of which about 7000 are known to exist, are defined as conditions that affect less than one in 2000 people.
About 80 per cent of these diseases have genetic origins.
"The thing about genetic conditions is they tend to occur out of the blue by chance," Professor Dudding-Byth said.
"The genome is so complex. Every time a cell divides, there's a risk of a genetic change.
"Individuals don't do anything to cause their genetic condition."
This stood in contrast to diseases heavily linked to factors like smoking, obesity and poor diet.
These types of diseases attracted huge amounts of research funding, while rare diseases were excluded.
The desire to address this imbalance was part of the mission.
"I really wanted to contribute to improving the lives of children with rare diseases," she said.
She also serves as director of the NSW Genetics of Learning Disability Service and on the medical advisory committee of the Steve Waugh Foundation.
