By Louisa Di Pietro, Group Leader, Genetic Support Network Victoria
Rare Disease Day is an International celebration of our community of people who are impacted by rare disease. Rare Disese Day, which falls annually on February 28, is an opportunity to put a spotlight on this ever-growing population worldwide and the issues they are most concerned about. In Australia, there are varying definitions on what constitutes a rare disease, but ‘rare’ is a disease which has a prevalence of 1 in 2000 people or less, and overall affects less than 200,000 people. There are over 8000 known rare disorders, syndrome and diseases and 80% affect children in childhood and progress to adulthood. Collectively, rare diseases affect 10% of the Australian population- or over two million people.
Here in Victoria, the Genetic Support Network Victoria (GSNV) works with many families, children and adults impacted by a rare disease. We learn about their stories and ongoing journeys, articulating what the ‘burden of care and cost’ really means. In having conducted five consecutive years of Rare Disease Day activities, I can say that overwhelmingly, access (to services, health professionals, information and research) and equity (affordable services) are reported as the top priorities for Victorians impacted by a rare disease year after year. In 2015, I’m embracing the Rare Disease Day mantra, ’day by day, hand in hand’ and doing my bit to address the unmet needs of our rare disease community.
Let’s get real
With current advances in genomics and genetic technologies there has never been a more opportune time for Australia to get serious about a coordinated approach to rare diseases. Science is leading the way but social change is lagging. A national rare disease strategy could for the rare diseases community be as momentous as the National Disability Insurance Scheme (NDIS) has been for disabled Australians. But the idea that 'no patient should be left behind' is just the same as 'every Australian counts' and despite all the bipartisan support in the world, despite the empathy of many State and Federal MP's, the rhetoric and the road shows showcasing the disparities, gaps in services, and burden of care for families and the health system; without breaking this down into digestible chunks, it will remain an egalitarian dream and health economics nightmare.
Let’s do it right
Rare diseases are incredibly heterogeneous and although rare is the 'new black' in the current approach to complex, genetic and undiagnosed conditions in Australia, this debate is more than just about a new label and one size definitely does not fit all. A rare disease national plan for Australia calls for an agreed approach, Federal input, and an equal voice and say for all stakeholders. This is also much more than just rare therapies, orphan drugs, research collaboration and research registries; it's a new social contract for Australia and one that celebrates human diversity.
As leader of the GSNV I am proud to know and work with many incredible people who personify the beauty of the human spirit and the enormity of what can be achieved if that spirit is celebrated and supported. In recognition of all my colleagues and friends who dedicate their work and often lives to making difference to those living with genetic, rare and complex conditions and those impacted by them personally, February 28 will be special for all of us.
Louisa Di Pietro is Group Leader of the Genetic Support Network Victoria (GSNV), a vibrant and active group committed to promoting the interests and well-being of people affected by genetic and rare conditions in Victoria.
Rare Disease Day is a day of celebration and aims to raise awareness amongst the general public and decision-makers about rare diseases and the impacts they have on those affected personally and their families. February 28th 2015 marks the 8th annual World Rare Disease Day and the 6th year Australia has been involved in this initiative.
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