Rare Disease Day 2026: Care, Connect, Cure
Description
Care, Connect, Cure is a free, inaugural hybrid summit hosted by Rare Diseases NSW, Genetic Alliance Australia, and Belongside Families, bringing together researchers, clinicians, policymakers, industry, patient advocates, and families to advance rare disease care and research in NSW and beyond.
Held over two days in Sydney with online participation available, the event will explore innovation across genomics, AI and digital health, advanced therapeutics, workforce capability, mental health, and culturally safe models of care. Grounded in lived experience and cutting-edge research, the program features keynote speakers, panels, interactive sessions, showcases, and a dedicated children and young people’s program.
What makes this event special is its focus on connection and equity—breaking down silos between research, care, and community. With free registration, travel bursaries for regional and remote participants, hybrid access, and strong accessibility supports, the event is designed to be inclusive, practical, and action-oriented.
Whether you’re working in health or research, shaping policy, developing innovation, or navigating rare disease as a patient, parent, or carer, this Summit offers a rare opportunity to learn, collaborate, and help shape the future of rare disease care in NSW.
Travel bursaries are available for people living in rural and regional NSW to help reduce the cost of attending the event in person. Visit our website for more information and to apply.
Rare Disease Day 2026 is hosted by Rare Diseases NSW and Genetic Alliance Australia, in partnership with UNSW and Sydney Children's Hospitals Network, with support from NSW Health, Belongside Families, SATB2 Connect, & SCN2A Australia.
Lineup
Rachel Callander
Rachel Callander is a sought-after keynote speaker, facilitator, author, and award-winning artist whose work sits at the intersection of health, communication, creativity, and lived experience. Inspired by her late daughter Evie, who was born with a very rare chromosomal condition, Rachel brings profound insight into how language and communication shape experiences of care for patients, families, and health professionals. Rachel will deliver a powerful keynote, followed by a practical and reflective masterclass for healthcare professionals and families. Through storytelling, evidence-informed frameworks, and lived experience, she challenges deficit-based narratives in healthcare and teaches compassionate, empowering communication that reduces trauma and builds connection. Rachel is the author of The Super Power Baby Project and Super Power Kids, internationally recognised works celebrating the strengths and humanity of children with disability. Her sessions are known for being deeply moving, highly practical, and transformative—leaving participants inspired, equipped, and ready to change practice.
Professor Krister Westlye Fjermestad
Professor Krister Westlye Fjermestad is a distinguished Norwegian researcher and clinician internationally recognised for his work on rare disorders and family-focused mental health interventions. He is a central figure in the development and research of SIBS (Søskenprosjektet), an evidence-based group intervention for siblings and parents of children with chronic health conditions. SIBS aims to strengthen parent–sibling communication and support sibling wellbeing by reducing the psychological challenges often experienced by children growing up with a brother or sister with a chronic disorder — an effort that has shown promising improvements in communication quality and sibling mental health in ongoing research. Professor Fjermestad has led and contributed to numerous high-impact research initiatives, published extensively in peer-reviewed journals, and built cross-disciplinary and international collaborations that bridge clinical practice and research in rare diseases and family mental health. He is also known for mentoring emerging researchers and shaping frameworks that support patient-centred, evidence-based care. He is visiting from Norway as an invited guest, bringing both scientific expertise and a global perspective to this event.
Adjunct Associate Professor Cathryn Cox PSM
Adjunct Associate Professor Cathryn Cox PSM has served as Chief Executive of Sydney Children’s Hospitals Network since August 2020. With extensive executive experience within the NSW Ministry of Health, she has led major health policy, planning, infrastructure and strategic reform initiatives, including serving as interim Chief Executive of Health Infrastructure. Beginning her career as a physiotherapist at Royal Prince Alfred Hospital, Cathryn has built a lifelong commitment to improving health systems and outcomes. She is deeply committed to the role of Sydney Children’s Hospitals Network, and its people, in delivering world-class, patient-centred care for children, young people and their families.
Professor Adam Jaffe
Professor Adam Jaffe has been a driving force in reshaping how rare diseases are understood, diagnosed, and treated in Australia and beyond. As Director of Rare Diseases NSW, his leadership is catalysing systemic change across clinical care, research, and policy. One of his most significant contributions was co-authoring the National Strategic Action Plan for Rare Diseases, launched by the Australian Minister for Health in 2020. This landmark policy framework established national priorities for rare disease research, diagnosis, and care delivery, and was developed in close collaboration with Rare Voices Australia. It has since guided funding decisions, improved clinical standards, and elevated the visibility of rare conditions within the healthcare system. Professor Jaffe’s advocacy extended to regulatory reform, where he served as the opening witness at the 2021 Parliamentary Inquiry into drug approval processes. His testimony directly influenced Health Technology Assessment pathways, improving access to life-changing medications for people living with rare diseases. Internationally, Professor Jaffe represents Australia in global research networks for children with interstitial lung disease (chILD), collaborating with peers across Europe and the USA. He convened the first national chILD summit in 2020, bringing together all Australian paediatric hospitals to create a unified support and research framework for affected families. His work with the WHO Collective Global Network for Rare Diseases and the Rare Disease International Taskforce has contributed to global policy frameworks, helping shape the World Health Assembly Resolution on rare diseases. These efforts have positioned Australia as a global leader in rare disease research and care. Professor Jaffe has authored over 275 publications and secured more than $76 million in research funding, including a major role in the $30 million MRFF Frontiers project developing next-generation lung imaging technologies. These tools offer safe, rapid, and detailed lung function analysis for all ages, particularly benefiting children with rare respiratory conditions who are often underserved by conventional testing methods. Through his research, policy leadership, and clinical innovation, Professor Jaffe continues to champion a future where people living with rare diseases receive timely diagnoses, equitable care, and hope for cure.
Trent Zimmerman
Trent Zimmerman is a corporate affairs and public policy leader with extensive experience at the intersection of healthcare, government and industry. He is currently Director Corporate Affairs at Alexion Pharmaceuticals Inc, AstraZeneca’s Rare Disease group, where he leads strategic policy and external engagement efforts focused on improving access to innovative therapies and strengthening collaboration across government, clinicians, researchers, patients and industry. Alexion supported the McKell Institute’s 2025 report A Rare Kind of Care: An Agenda to Deliver Health Equity for Australians Living with a Rare Disease, which highlighted gaps in national coordination, access to innovative and the need for state-based rare disease strategies. From 2015 to 2022, Trent served as the Federal Member for North Sydney in the Australian Parliament. During his time in office, he chaired the House of Representatives Standing Committee on Health, Aged Care and Sport and led parliamentary inquiries examining access to medicines, innovative therapies and broader health system reform. His parliamentary and corporate experience provides a unique perspective on policy development, system reform and multi-stakeholder collaboration to improve outcomes for people living with rare and complex diseases.
Associate Professor Emma Palmer
Dr Emma Palmer is an Associate Professor and NHMRC Research Fellow. As a Clinical Geneticist at Sydney Children’s Hospital, her work with families informs her research aimed at improving the journey for those with rare diseases. A/Prof Palmer leads several programs, including GeneAdd, UDNAus, UDNI, and RArEST, and has launched Australia's first National Recommendations for Rare Disease Health Care. She also leads GeneEQUAL, improving genetic testing accessibility for people with intellectual disabilities, and Gene2Care, ensuring rapid diagnosis and support for children with rare diseases. Driven by a passion for global health and equity, A/Palmer advises the WHO and co-leads the Undiagnosed Disease Network International Diagnostic Working Group. She integrates authentic co-design with those living with rare diseases into her work, constantly inspired and learning from her remarkable patients and their families.
Kris Pierce
Kris Pierce is a distinguished leader in consumer involvement and advocacy within the healthcare sector. As the Director of Consumer Involvement at Child Unlimited, UNSW, she developed and implemented consumer engagement frameworks and led patient-centred initiatives. Kris currently serves as Strategic Lead, Consumer & Community Engagement at Rare Diseases NSW, where she is leading the consumer engagement and co-design on two major projects: My Rare Mate and Diagnosis4All. My Rare Mate is an Australian-first co-designed digital innovation aimed at reducing low-value healthcare and improving person-centred, coordinated care for people living with rare diseases. Diagnosis4All focuses on achieving equitable access to genomic-based diagnoses for priority populations across NSW, embedding culturally safe, community-led approaches into clinical and research genomics. She has co-founded and leads SCN2A Australia and has contributed to the International League Against Epilepsy (ILAE), Global Genes, and The Epilepsy Foundation. Recognised through her induction into the Victorian Women’s Honour Roll and a nomination for the Children’s Healthcare Australasia Medal of Distinction, she continues to enhance patient and family engagement, ensuring consumer voices are integral to healthcare decision-making. Most recently, Kris was appointed to the Medical Services Advisory Committee – Evaluation Sub-Committee.
Dr Michael Shum
Dr Michael Shum is the Kids Advanced Therapeutics (KAT) Program Manager at the Sydney Children’s Hospitals Network. He leads a system-wide framework designed to bridge the gap between research and the bedside, enabling the safe and sustainable delivery of gene therapies and advanced therapeutics for paediatric patients. Michael brings extensive experience in navigating advanced therapeutics clinical trials, driving system readiness and workforce education through deep engagement with clinician researchers, industry, and government. He previously facilitated the establishment of Australia’s inaugural viral vector manufacturing initiative, overseeing the delivery of a GMP-compliant facility to produce clinical-grade vectors—a landmark shift in the country's domestic gene therapy capabilities. Michael holds a PhD in Paediatrics from UNSW, with a background spanning oncology research, cancer registry management, and state-wide eHealth project delivery. He is a vocal advocate for research-intensive models of care and remains dedicated to translating medical breakthroughs into sustainable clinical practice.
Dr Braulio Mark Valencia Arroyo
Braulio Mark Valencia Arroyo, MD, MSc, PhD, is a clinician–scientist and early-career researcher at the International Centre for Future Health Systems, University of New South Wales (UNSW), Sydney. His expertise lies at the intersection of molecular diagnostics, infectious diseases, and translational research, with a strong focus on developing and applying disease biomarkers. His work spans the design and evaluation of observational and interventional studies, as well as the development of molecular assays for pathogen detection, particularly in neglected tropical diseases. He also investigates host genomic determinants of severity and susceptibility in acute and chronic infections. Dr Valencia Arroyo’s dual clinical and laboratory background has enabled him to contribute to high-impact systematic reviews and meta-analyses aimed at improving access to diagnostics and care pathways for viral and parasitic infections. His research is grounded in multidisciplinary collaborations across global health settings and reflects a consistent effort to integrate laboratory science with clinical and epidemiological insights.
Maddison Smith
Maddison Smith is a PhD candidate and Research Assistant in the Faculty of Medicine and Health at UNSW. She completed a Bachelor of Psychology (Honours) in 2023, receiving the University Medal and First Class Honours. Her PhD focuses on supporting the psychosocial wellbeing of siblings of children with developmental and epileptic encephalopathies. She leads the SIBS-ONLINE program here and supports projects including My Rare Mate, Diagnosis4All and RArEST. Maddison is committed to embedding psychology and mental health into care for patients and families across the healthcare system.
Louise Healy
Louise Healy is Education & Advocacy Manager at Rare Voices Australia. Louise has lived experience of rare disease s the parent of a young adult with a rare metabolic disorder. She has been involved in rare disease patient support, education and advocacy for over 15 years. She has post graduate qualifications in psychology. Louise is the current Vice President of the Metabolic Dietary Disorders Association.
Emma Bonser
Emma Bonser is the Chief Executive Officer of Genetic Alliance Australia, a national organisation supporting people and families affected by less common, rare and undiagnosed genetic conditions. She has 20 years’ experience across the NGO, NFP and life sciences sectors, with work spanning Australia, New Zealand and Asia and 25 years as a carer and advocate. Her work centres on embedding lived experience in system design, partnering with communities, particularly those affected by ultra-rare conditions who may not be formally connected to condition-specific organisations, to help shape research priorities, funding decisions and care pathways that support people across the full continuum of care.
Stacey Touma
Stacey Touma is a strategic leader, advocate, and experienced professional dedicated to ensuring families of children with disability feel informed, supported, and empowered. As CEO of Belongside Families, she leads with a deep commitment to innovation, inclusion, and evidence-informed approaches, creating contemporary programs that help families navigate raising a child with disability. With extensive strategic, operational and project management experience spanning the corporate, not-for-profit, and professional sporting sectors, Stacey brings both expertise and lived experience to her work. As a mum of a high schooler with disability, she is passionate about fostering independence and self-advocacy, ensuring her son has the confidence and tools to speak up for himself. Stacey serves on the NSW Government Carers Advisory Council and represents Kindred on various government and community committees, working groups, and advisory panels, driving systemic change and advocating for stronger supports and better outcomes for children with disability and their families.
Nika Kulaweera
Nika Kulaweera is a Registered Nurse and Clinical Nurse Specialist – Rare Kids Care Navigator within the Clinical Genetics team at Sydney Children’s Hospitals Network. A compassionate and highly respected clinician, Nika co-designed and leads the groundbreaking Rare Kids Care Navigator Project, a nurse-led pilot supporting families of children with rare conditions who face significant barriers to accessing care, including Aboriginal and Torres Strait Islander families, culturally diverse communities, rural families and those experiencing socio-economic disadvantage. She is known for her ability to navigate complex health systems while providing deeply person-centred, culturally safe and practical support — from coordinating multidisciplinary care and developing rare disease passports to securing accommodation and financial assistance for vulnerable families. As one of only two publicly funded rare disease nurse navigators nationally, Nika is also building workforce capacity through mentorship, advocacy and sector leadership, improving equity, access and outcomes for children and families living with rare disease.
Natalie Roberts
Natalie Roberts is the Strategic Lead: Health Literacy and Education within the Rare Diseases NSW team at UNSW and SCHN. She supports a portfolio of rare disease education initiatives designed to strengthen health literacy, build capability within the workforce, and empower people living with a rare disease, along with their families and carers. Natalie’s work focuses on translating complex information into accessible, practical resources that enhance understanding, support informed decision-making, and improve experiences of care across the health system.
Dalia Metwally
Dalia Metwally is a PhD candidate and Research Assistant within the Discipline of Paediatrics and Child Health at UNSW, based at the Sydney Children's Hospital Network. Her research focuses on genomic diagnostic equity for priority populations in rare disease, examining barriers and enablers to equitable access and diagnostic outcomes. She completed her Bachelor of Medical Science (Pathology) Honours with First Class, at UNSW. Dalia supports the Diagnosis4All and My Rare Mate projects and is passionate about improving genomic diagnostics for underserved communities.
Jessica Short
Jessica Short is a passionate advocate, creative writer, and community educator living with Osteopathia Striata with Cranial Sclerosis (OSCS), a rare genetic skeletal condition that affects bone density, mobility, and overall physical health. Through her lived experience, Jessica brings a powerful and deeply personal perspective to conversations around rare disease, disability, and inclusive healthcare. Jessica works full time as a school librarian, where she combines her love of literacy, storytelling, and community connection. Alongside her professional role, she is undertaking further study and pursuing creative interests in writing and the arts. She is also working towards establishing a foundation dedicated to supporting individuals and families living with rare diseases, including OSCS, with a focus on advocacy, connection, education, and practical support, while also striving to improve healthcare systems to ensure more coordinated, equitable, and person-centred care. Living with a complex, lifelong condition has shaped Jessica’s understanding of the physical, emotional, and systemic challenges faced by people with rare diseases. She experiences chronic pain, fatigue, and fluctuating mobility, as well as the broader impacts of navigating healthcare systems, disability supports, and social participation. These experiences have strengthened her commitment to raising awareness, improving healthcare pathways, and advancing access to coordinated, compassionate care.
Mark Latham
Mark Latham was diagnosed with Giant Cell Tumour of Bone (GCTB), a rare and locally aggressive bone tumour, in December 2021 at age 31. Following surgery at St Vincent’s Private Hospital, and ongoing treatment using denosumab to manage a recurrence, he redirected his experience into patient advocacy and independent research focused on improving outcomes in GCTB. Professionally, Mark consults to early-stage healthtech startups, advising on product development and customer success. This work informs his understanding of how healthcare systems and tools can better support patients in practice. He now contributes as a consumer advisor in precision medicine research and collaborates with Rare Voices Australia, Rare Diseases NSW, UNSW, and GCT Support, the international patient support group for individuals affected by giant cell tumours. He has also undertaken molecular oncology profiling through the Omico Cancer Screening Program. Mark’s current focus is identifying novel treatment pathways beyond surgery and denosumab, and progressing pilot research initiatives aimed at advancing therapeutic options for people living with GCTB.
Bree Pennie
Bree began her career in medical practice management. After spending time living in Darwin and Karratha, Bree returned to NSW when her son Dax was born with Congenital Cytomegalovirus (CMV). This sparked a deep passion for disability inclusion and showing what’s possible for families like hers. Bree began sharing her family’s story through CMV Australia and Cerebral Palsy Alliance, helping to raise awareness and connect with other families on similar journeys. Now, as Program Manager at Belongside Families, Bree leads the design and facilitation of programs that support, empower and connect parents and carers of young people with disability. She works across workshops, peer groups and webinars – creating spaces where families feel informed, uplifted and, most importantly, not alone. What Bree loves most about her work is the feeling she gets after a session, knowing a parent or carer has walked away feeling heard, supported and more confident. She believes deeply in the power of connection and community. Bree now lives with her family on the NSW South Coast. Bree, along with her partner Mitchell, loves to spend time outdoors and always finds a way to include Dax and their daughter Dylan in their adventures.
Pamela Rogers
Pam studied Early Childhood Education at university, but it was raising, caring and advocating for her son Christopher that deepened her passion for supporting other families, especially mothers. The unique perspectives gained through parenting Christopher have shaped her values and understanding of the importance of community – insights that now guide her work at Belongside Families. Pam is a storyteller and loves that she can honour her boy and their story, by sharing her wisdom and experiences – offering validation and companionship to other families raising children with disability on this path less travelled. Pam works as a peer facilitator at Belongside Families, facilitating MyTime groups, Envisage and other parent workshops as well as supporting families in our community with high medical needs She enjoys writing about her experiences, and helped develop the resource ‘Finding Your Way’. Pam hopes that by offering a friendly ear, a shoulder or a virtual hug, parents and carers can leave the group feeling buoyed and connected – reassured that they are doing the very best that they can and that their challenges and hardships do not define the relationship they have with their child. Most importantly, she hopes they feel safe and secure in the knowledge that the love they hold for their child will always be enough.
Professor Iva Strnadová
Prof Iva Strnadová’s research aims to contribute to better understanding and the improvement of the life experiences of people with disabilities, especially people with intellectual disabilities. Combining research with advocacy is essential in her research program, which builds on supporting the self-determination (including self-advocacy) of people with intellectual disabilities, and is grounded in an innovative inclusive research approach, in which people with intellectual disabilities are included in the role of researcher. She has a particular research interest in the well-being of people with developmental disabilities (intellectual disabilities and autism) and their families over the life span, diverse transitions in the lives of people with disabilities (particularly intellectual disabilities and autism); girls and women with intellectual disabilities; parents with intellectual disabilities; people with profound intellectual and multiple disabilities, and inclusive research.
Skie Sarfaraz
Skie is a Team Leader for the Leadership and Peer Support program at Self Advocacy Sydney. She is also an Ambassador for Kindship supporting other parents and carers of children with disabilities. Skie has a passion for helping people improve their English. Skie loves spending time with her family and puppy, and creative writing.
Sam Hurd
Sam is a non-binary young autistic adult with an intellectual disability. They are employed as a research assistant at School of Education, University of New South Wales Sydney. Sam is starting a small craft business. Sam likes Supernatural, playing board games and Dungeons and Dragons (DnD). They love frogs and turtles.
Captain Powers & Captain Smurfette
Captain Powers and Captain Smurfette are two of the Starlight Foundation's superstars, on a mission to bring smiles, laughter and a little bit of magic wherever they go. With their unstoppable energy and superhero spirit, they turn ordinary moments into extraordinary adventures for children and young people. From face painting and balloon fun to animal charades, dance moves and even a few gloriously bad jokes, these Captains know exactly how to spark joy. Get ready for giggles, high-fives and super-powered fun as they help make Rare Disease Day extra special for our youngest heroes.
Frequently Asked Questions (FAQs)
- What is Rare Disease Day 2026: Care Connect Cure?
Rare Disease Day 2026: Care. Connect. Cure. is a multi-day event bringing together people living with rare disease, families, clinicians, researchers, students, policymakers and industry partners. The event focuses on improving diagnosis, care, research collaboration and innovation across the rare disease ecosystem in NSW and beyond.
- When and where is the event being held?
The event will take place from 27 February to 28 February 2026 at UNSW's Health Translation Hub, located on the Randwick Health & Innovation Precinct, Sydney NSW.
All sessions will be broadcast online too.
- Who is the event for?
The event is open to everyone with an interest in rare diseases, including:
People living with a rare disease
Families, carers and siblings
Clinicians and allied health professionals
Researchers and students
Health service leaders, policymakers and industry partners
While some sessions are more clinically or research-focused, patients and families are very welcome to attend any sessions that interest them.
- Do I need to pay to attend?
No. Registration is free to ensure the event is accessible to as many people as possible.
- Will the event be accessible?
Yes. Accessibility and inclusion are core to the event design.
Supports include:
Hybrid participation options (in-person and online)
Live captioning and Auslan interpretation for selected sessions
Easy Read and accessible materials
Sensory-friendly considerations
Family-inclusive programming, including activities for children and young people
If you have specific access needs, contact us via email (rarediseasesnsw@unsw.edu.au)
- Is help with travel & accommodation available?
Yes. Travel bursaries are available for people living in rural and regional NSW to help reduce the cost of attending the event in person.
Bursaries can be used to support travel-related expenses such as transport and accommodation. Places are limited and applications are required.
Visit our website for more information and to apply.
- Who can apply for a travel bursary?
Travel bursaries are intended for:
People living with a rare disease
Parents, carers or family members
Healthcare professionals
who live in rural or regional NSW and would otherwise face barriers to attending in person.
- How do I apply for a travel bursary?
Details on eligibility, application criteria and how to apply are available on the Rare Diseases NSW website. Applications will be assessed, and successful applicants will be notified ahead of the event.
👉 Learn more about travel bursaries:
https://rarediseasesnsw.au/home/news/regional-nsw-travel-bursaries/ - Can I attend just one day or specific sessions?
Yes. You are welcome to attend one day, multiple days, or selected sessions only.
- Who is hosting the event?
Rare Disease Day 2026 is hosted by Rare Diseases NSW and Genetics Alliance Australia, in partnership with UNSW and Sydney Children’s Hospitals Network, with support from NSW Health, Belongside Families, and other collaborators.
- How can I stay updated?
You can stay informed about program updates, speakers and registration details by:
Signing up to the Rare Diseases NSW mailing list
Following Rare Diseases NSW on LinkedIn
Agenda
- 9:05 am - 9:10 am
Welcome & Acknowledgement of Country: Adjunct Associate Professor Cathryn Cox PSM, Sydney Children's Hospitals Network
- 9:10 am - 9:30 am
Vision for Rare Diseases NSW: Care Connect Cure - Professor Adam Jaffe, Rare Diseases NSW, UNSW Sydney, & SCHN
Professor Adam Jaffe will outline the vision for "Rare Diseases NSW: Care Connect Cure" – a proposed Centre of Expertise that would integrate world-class diagnostics, coordinated multidisciplinary care, cutting-edge research, and advanced therapeutics. He will demonstrate NSW's existing strengths in co-designed education, translational research, and community partnerships, making the case for government commitment to establish infrastructure that positions NSW as a national leader alongside Western Australia in transforming rare disease care from fragmented pathways to seamless, family-centred support across the lifespan.
- 9:30 am - 9:45 am
Invited Speaker: Driving Change: pursuing a rare disease strategy for NSW - Trent Zimmerman, Alexion Pharmaceuticals Ltd
Trent Zimmerman will present Alexion’s perspective on the proposed NSW Rare Disease Strategy, with a focus on the role of industry in supporting equitable and sustainable reform. He will explore how industry can work in partnership with government, clinicians, patients and families, universities, medical research institutes and advocacy organisations to strengthen rare disease care and access to innovation.
- 9:45 am - 10:05 am
Invited Speaker: The Kids Advanced Therapeutics Program - Building systems readiness for gene therapy translation - Dr Michael Shum, SCHN Kids Advanced Therapeutics
Dr Michael Shum will present on the Kids Advanced Therapeutics (KAT) Program and its role in building system-wide readiness for the safe and sustainable translation of gene therapies into paediatric care. His presentation will outline how the program bridges research and clinical delivery through coordinated infrastructure, workforce education and cross-sector collaboration with clinicians, industry and government to enable advanced therapeutics at scale.
- 10:05 am - 10:25 am
Invited Speaker: Advanced Therapeutics and Research Translation: Bringing Novel Treatments to Patients - Kris Pierce, Rare Diseases NSW & SCN2A Australia
Kris Pierce will explore the equity challenges surrounding novel therapies from a consumer perspective, including gene therapies, advanced therapeutics and N-of-1 pathways, highlighting that scientific progress does not automatically translate into equitable access. Drawing on lived and sector experience, she will examine research timelines versus family timelines, the invisible workload required to reach trials, geographic and information inequities, and the ethical tensions that arise when hope, urgency and population-based systems intersect.
- 10:25 am - 10:45 am
Invited Speaker: Rare Diseases – Collectively, Not so Rare - A/Prof John Preddy
A/Prof John Preddy will be speaking on the integral role of general paediatricians, drawing on his experience delivering comprehensive, locally based care and the realities of supporting children with rare conditions in regional settings.
- 10:45 am - 11:05 am
Invited Speaker: Dr Braulio Valencia Arroyo, International Centre for Future Health Systems
Dr Braulio Mark Valencia Arroyo will discuss emerging approaches to defining the requirements for precision medicine in primary care, with a focus on how omics and AI can support GPs in managing common diseases. He will also explore how strengthening primary‑care systems in this way can ultimately improve early identification, referral pathways, and genomic access for people with rare diseases.
- 11:05 am - 11:30 am
Break: Morning Tea
- 11:30 am - 11:50 am
International Invited Speaker: How to support siblings of children with rare diseases with the SIBS intervention - Professor Krister Westlye Fjermestad
Invited speaker Professor Krister Westlye Fjermestad, visiting Sydney from Norway, will present on how the SIBS intervention supports the mental health and wellbeing of siblings of children with rare diseases. Siblings are often the "invisible" carers and supporters within families, and SIBS provides practical tools to strengthen parent–sibling communication, reduce psychological distress, and build resilience within the family unit.
- 11:50 am - 12:10 pm
Invited Speaker: Supporting siblings of children with rare epilepsy conditions in Australia - Maddison Smith, UNSW Sydney
- 12:10 pm - 12:30 pm
Invited Speaker: Supporting mental health and wellbeing of people living with rare disease - resource for clinicians - Louise Healy, Rare Voices Australia
Louise Healy will present on Rare Voices Australia’s new RACGP-approved educational resource, designed to support clinicians in delivering holistic, person-centred care for people living with rare disease. She will also introduce the newly launched RARE Help page, a practical online resource connecting individuals, families and health professionals with trusted information, services and support.
- 12:35 pm - 1:35 pm
Break: Lunch
- 1:35 pm - 2:35 pm
Keynote Presentation: First Do No Harm The Impact of Language in Healthcare - Rachel Callander
Rachel Callander will deliver a keynote followed by a practical masterclass (on Saturday), using storytelling, lived experience and evidence-informed tools to challenge deficit-based narratives and build compassionate, trauma-aware communication.
- 2:35 pm - 2:55 pm
Panel: Day 1 Reflections
Following her keynote, Rachael Callander will join A/Prof Emma Palmer, Prof Adam Jaffe, Stacey Touma, Kris Pierce, Maddison Smith and Emma Bonser for a short Q&A and reflection panel. Led by A/Prof Emma Palmer. Together, the panel will explore key themes from the day and respond to audience questions. With a diverse lineup of speakers and topics across the program, this session creates space to pause, unpack and reflect on the insights, challenges and ideas explored — fostering thoughtful dialogue and shared learning before the day concludes.
- 3:00 pm - 3:30 pm
Break: Afternoon Tea
- 4:00 pm
Event Ends
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