Rare Disease Day 2026: Care Connect Cure

670 voices. One shared goal: better outcomes for people living with rare diseases.

Rare Disease Day 2026 brought together 670 people across two days at the UNSW Health Translation Hub and online — including people living with rare diseases, families, clinicians, researchers, policymakers, industry and advocates.

Together, we explored a shared vision for the future: a system where people with rare diseases receive faster diagnoses, coordinated care, and equitable access to research and treatments.

This year’s theme — Care. Connect. Cure. — was more than a tagline. It shaped every conversation, from policy and research to lived experience and clinical practice.

Rare Disease Day 2026 was delivered by Rare Diseases NSW, Genetic Alliance Australia and Belongside Families, with support from NSW Health and our partners across the sector.

Photo Credits: Abbie Lygate, ASL Photography

Key Messages

1. A NSW Rare Disease Strategy is within reach

The NSW Government has committed to developing a state-based Rare Disease Strategy and Action Plan. This event demonstrated that the community is organised, evidence-informed, and ready to partner with government to shape it.

2. Rare diseases require coordinated, system-level change

People with rare diseases continue to face fragmented care, delayed diagnosis and limited access to treatments.

There was strong alignment around the need for:

  • Integrated, multidisciplinary models of care
  • Clear navigation pathways
  • Centres of expertise
  • Better coordination across primary, tertiary and community systems

3. Research must be done with the community, not to the community

The launch of Rare Power reinforced a sector-wide shift toward genuine co-design.

Lived experience is not an “add-on” — it is essential to:

  • Designing research
  • Setting priorities
  • Translating findings into real-world impact

4. Science is advancing – but access must keep pace

People with rare diseases continue to face fragmented care, delayed diagnosis and limited access to treatments.

There was strong alignment around the need for:

  • Integrated, multidisciplinary models of care
  • Clear navigation pathways
  • Centres of expertise
  • Better coordination across primary, tertiary and community systems

5. Communication in healthcare is a system issue

Rachel Callander’s keynote and masterclass highlighted the profound impact of language in healthcare.

Participants explored how:

  • Deficit-based language can harm trust and understanding
  • Clear, compassionate communication improves outcomes
  • Strengths-based approaches (e.g. “Awesomeness Reports”) can transform care experiences

Event Highlights

Watch the recordings

Watch sessions here [coming soon!]

Photo gallery

Explore moments from both days, below:

Spotlight: Leading with lived experience

Two of the most powerful speakers were Skie (pictured on right) and Sam, members of the GeneEQUAL team alongside Professor Iva Strnadová (pictured on left) and Associate Professor Emma Palmer (who also spoke), working together on inclusive, co-produced research.

They shared a world-first co-production project developing the first Easy Read booklet about intellectual disability written by people with intellectual disability themselves.

Developed over nine months, the booklet was created through genuine co-design, with people with intellectual disability working as equal partners at every stage — from concept to content, review and refinement. The resource presents both strengths and real challenges, moving beyond deficit-based language to reflect lived experience and the barriers created by society.

Their presentation demonstrated what meaningful inclusion looks like in practice — not consultation, but leadership — and set a new benchmark for co-production in research and health communication.

Being excluded from information about your own life is not just a communication issue — it is a human rights issue.
Two women smiling together at Rare Disease Day 2026 at the UNSW Health Translation Hub, both wearing decorative face paint. Left to right: Professor Iva Strnadová, wearing a navy blazer and event name badge with blue floral face paint, and Skie Sarfaraz, wearing a blue dress with a purple butterfly face paint design. Photo credit: Abbie Lygate, ASL Photography.
Professor Iva Strnadová and Skie Sarfaraz from the GeneEQUAL team. Photo credit: Abbie Lygate, ASL Photography.
Professor Krister Westlye Fjermestad presents at Rare Disease Day 2026 at the UNSW Health Translation Hub, standing in front of a large projection screen and holding a microphone. He is dressed in a dark shirt and wide-leg khaki trousers, gesturing expressively while speaking. Behind him, a presentation slide titled "Sibling project outline" lists eight milestones of the SIBS programme, from qualitative studies (2012–15) through to MiniSIBS (2022–), alongside the logos of Frambu and the University of Oslo. Online participant icons are visible along the bottom of the screen. An audience is seated in the foreground with their backs to the camera. Photo credit: Abbie Lygate, ASL Photography.
Professor Krister Westlye Fjermestad from the University of Oslo, Norway presents on the SIBS sibling support. Photo credit: Abbie Lygate, ASL Photography.

Spotlight: Supporting siblings — bringing global evidence to Australia

Professor Krister Westlye Fjermestad (Norwegian Centre for Rare Disorders & University of Oslo) brought an important international perspective to Rare Disease Day 2026, focusing on an often overlooked group — siblings of children with rare diseases.

Krister presented the SIBS intervention, an evidence-based program developed in Norway to support siblings and families. Backed by randomised controlled trials, SIBS improves sibling mental health and strengthens communication within families.

The program focuses on practical, teachable skills — helping parents and siblings communicate openly, validate emotions, and better understand each other’s experiences.

Importantly, Krister also shared that in Norway, healthcare professionals are legally required to consider the needs of siblings — a powerful example of how policy can recognise the full impact of rare disease on families.

His presentation has directly informed the Australian context, including the SIBS Online Australia pilot, which is now being trialled with local families.

Supporting siblings is not optional — it is essential to delivering whole-of-family care.

What's happens next?

Rare Disease Day 2026 was not an endpoint — it was a catalyst.

Next steps include:

  • Ongoing consultation to inform the proposed NSW Rare Disease Strategy
  • Expansion of Rare Power and consumer involvement in research
  • Continued collaboration across clinical, research and community sectors
  • Development of new programs and partnerships emerging from the event

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