Rare Diseases NSW are holding two special events where you’re invited to learn how you can shape the future of rare disease care and celebrate international Rare Disease Day 2025.
Humanising Health Care, Friday, 28th February 2025: For clinicians, students, educators, scientists, and anyone passionate about advancing rare disease care and promoting inclusivity in healthcare and research. Hear from leading researchers, clinicians, those with lived experience, and service providers at the forefront of rare disease care. Register for the Professional Day
Imagine More, Saturday, 1st March 2025: A family-friendly event bringing together people living with a rare disease, health professionals, and the wider community to connect, share, and inspire. There will be fun activities for kids, and it's free-of-charge. Register for the Patient & Family Day
The venue for both events is the lecture theatre at Sydney Children’s Hospital on the Randwick Health & Innovation Precinct.
Partnership with People Living with Rare Disease
Dr Elizabeth (Emma) Palmer (UNSW Sydney & Sydney Children’s Hospitals Network), Maria Kamper (22q Foundation Australia & New Zealand), and Emma Bonser (Genetics Alliance Australia), are the powerhouse team behind the Rare Disease Day events at the Precinct.
As a clinical geneticist, Dr Palmer is passionate about equitable healthcare, her research enhances the diagnosis and care for children with rare genetic conditions. Emma’s work, which values co-design with those living with rare disease, is exemplified by these events which have been organised in partnership and co-funded by 22q Foundation Australia & New Zealand, Genetics Alliance Australia, and UNSW Sydney.
"Events like this, which unite the clinical, research, and rare disease communities, are essential. By raising awareness, educating, and collaborating, we can significantly improve the lives of those living with rare diseases and their families. It's about fostering a more inclusive and understanding society where everyone has access to the care and support they need."
Emma Bonser is Chief Executive Officer of Genetic Alliance Australia (GAA), an umbrella organisation dedicated to people living with conditions so rare they do not have their own support group. GAA’s vision is simple, people with genetic diseases are respected and supported in an inclusive society. Emma has deep admiration for the rare community - her advocacy in complex and chronic illness is shaped by her lived experience as a long-time carer for her mother living with significant disability who later developed genetic young onset dementia. Witnessing the lack of information, care pathways, infrastructure and support for her mother’s confounding presentation fuelled her commitment to advancing consumer partnerships in research and health service delivery.
Maria Kamper is the President of the 22q Foundation Australia and New Zealand - a not-for-profit charity supporting people affected by 22q111.2 Deletion Syndrome. Maria is parent to Charli, who will be speaking on her lived experience of 22q and ‘How I want clinicians to work with me’ on 28th February 2025. Charli has been photographed by the events special guest Rick Guidotti, and features in the promotional material.
Special Guest: Rick Guidotti
Award-winning US-photographer Rick Guidotti, founder of Positive Exposure, will share his inspiring work on both days. His photography celebrates human diversity, and his educational resources and programming reconstruct societal attitudes towards individuals living with genetic, physical, behavioural, or intellectual difference. Rick’s work has that has taken him all over the world to hundreds of non-profit organisations, hospital systems, advocacy groups, and educational institutions.
Rick’s journey began in 1997 when he met a young lady at a bus stop in New York who was living with albinism. To understand more about albinism, Rick sought out medical textbooks where he was affronted by the dehumanising images depicting disease and lacking all humanity. As an artist, he then shifted his focus from the more traditional ideas of beauty to the beauty and richness of human diversity. Since launching Positive Exposure in 1998, Rick has worked globally to change societal attitudes towards individuals with genetic, physical, behavioural, or intellectual differences. Positive Exposure strives to create spaces rooted in unity, respect, and inclusion.
Who is Rare Diseases NSW?
Based at the Randwick Health & Innovation Precinct, Rare Diseases NSW aspires to be internationally recognised as a leading centre of expertise that provides comprehensive, integrated rare disease health care, underpinned by world leading research, education, training, and advocacy.
Their mission is to support the holistic health needs of children and adults living with a rare disease, and their families. To enable them to achieve their best possible health and wellbeing outcomes.
Whilst working towards establishing a comprehensive centre that unites fragmented rare disease activities across New South Wales, Rare Diseases NSW currently operates as a network of experts based at the Precinct. Committed to supporting people living with rare diseases, they share knowledge to promote research, education and evidence-based best practices and advocate for continual improvement of services for the community.
Visit the website to learn more about Rare Diseses NSW or reach out to the team via email.
What is Rare Disease Day?
Rare Disease Day, observed every year on 28 February (or 29 in leap years- the rarest day of the year), is a global movement promoting equity in social opportunity, healthcare, and access to diagnosis and therapies for people with rare diseases. Since its creation in 2008, it has united a diverse international community. Coordinated by EURORDIS and over 65 national alliance partners, Rare Disease Day drives advocacy efforts at local, national, and international levels.