Overview of Recommendations

1. Deliver person-centred care that values diversity and lived experience as people living with rare disease are often experts in their own conditions and have changing, complex needs.1.1 Partner with people living with rare disease in diagnosis and care by sharing tailored information and education, facilitating shared decision making, and empowering them to be advocates and active participants in decision making.
1.2 Recognise additional challenges faced by priority populations living with rare disease and consider how to appropriately tailor care.
1.3 Practice in a culturally safe manner with Aboriginal and Torres Strait Islander people.
1.4 Practice in a culturally safe manner with people from culturally and linguistically diverse backgrounds.
1.5 Link people living in regional, rural, and remote areas to resources and services which could reduce the time and expense to access care.
2. Facilitate timely and accurate diagnosis as a rare disease diagnosis can lead to better clinical care, peer support, reproductive confidence, and access to services and clinical trials.2.1 Identify red flags that indicate someone may have a rare disease.
2.2 Follow established protocols and pathways for timely and accurate diagnosis.
2.3 Support people living with rare disease who remain on the diagnostic odyssey.
3. Engage in two-way knowledge sharing with colleagues and Centres of Expertise in and across jurisdictions as no one can be an expert in over 7,000 rare diseases.3.1 Consult with and refer people living with rare disease to rare disease experts and Centres of Expertise, including internationally.
3.2 Facilitate systematic access to rare disease data collection, including access to rare disease registries and natural history studies.
3.3 Align care with best practice guidelines and evidence.
4. Respond to the inherent uncertainty of rare disease, by facilitating connections with rare disease and patient advocacy groups, research including clinical trials, and new therapies and technologies as fewer than 5% of rare diseases have a curative treatment but knowledge is rapidly expanding4.1 Learn from, contribute to, and connect people living with rare disease to rare disease and patient advocacy groups.
4.2 Find, participate in, and connect people living with rare disease to research, including clinical trials and research studies in rare diseases.
4.3 Facilitate access to advanced therapies.
5. Recognise and support mental health, social and emotional wellbeing needs as living with rare disease affects all facets of people’s lives5.1 Be aware of the mental health and wellbeing impacts of living with rare disease.
5.2 Ask about mental health and wellbeing at all appointments and recommend appropriate resources, support, and referrals.
5.3 Deliver strengths-based and trauma-informed care.
6. Promote integrated and coordinated care across the lifespan as people living with rare disease require a wide range of health and support services6.1 Advocate for and deliver an integrated and cross-sectoral model of care.
6.2 Facilitate care coordination for each person living with rare disease.
6.3 Facilitate successful transitions at key points, including to adult and end-of-life care.
7. Facilitate health promotion, reproductive choices, and preventive measures for both genetic and non-genetic rare diseases as some rare diseases may be preventable, or their impact reduced through these measures7.1 Apply the principles of health promotion and prevention where relevant to rare diseases, including infectious diseases, cancers, and autoimmune disorders.
7.2 Facilitate understanding of and access to testing and technologies to support reproductive confidence.
8. Engage in relevant continuing education, reflective practice, and quality improvement as knowledgeable and skilled health professionals can greatly improve outcomes for people living with rare disease.8.1 Engage in continuing professional development on multiple aspects of rare disease care.
8.2 Engage in reflective practice regarding your learning needs and care for people living with rare disease.
8.3 Participate in quality improvement activities, including routinely collecting relevant data.