Recommendation 1

Recommendation 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.

Recommendation 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.

Why this is important:

Working in partnership with people living with rare disease has been shown to have benefits throughout the entire rare disease experience, including diagnosis, care, and research, for people living with rare disease as well as clinicians and researchers.⁷

“A specialist recently asked me what I expected from him in terms of my care needs. This was an approach that I had not experienced before from a health care professional. It made me feel as though he was interested and willing to listen, and that I was a part of and in control of my treatment program.”

People living with rare disease face uncertainty throughout their lives, which can cause additional challenges to health-related decision making.^9,12,13 Uncertainty is a feature of being undiagnosed. A diagnosis, while having benefits as outlined in Recommendation 2, can also create uncertainty.¹³ Health professionals have not heard of most individual rare diseases and most rare diseases do not have formal management guidelines, optimal therapies, or easily accessible plain language information to refer to. This should be acknowledged by health professionals.

People living with rare disease often extensively research their symptoms or diagnosis to address these uncertainties. Often, people living with rare disease are more knowledgeable about their condition than the health professionals they engage with, given their personal investment and connections to rare disease communities and patient advocacy groups. Acknowledging that fact with people living with rare disease and being open to their suggestions, as well as assisting them by signposting reliable sources of information, can be helpful in guiding people’s self-management skills, while also equipping them to be effective advocates.⁷

“One of the most helpful things was being consistently treated as part of our child’s care team. They asked questions and listened, using this information to discuss decisions around treatment and management with our family. They supported efforts to become better informed by suggested research papers and other resources. It was really empowering, especially because you often feel so powerless in the face of a rare disease diagnosis.”

Being involved in making decisions for their own health care can result in higher levels of positive talk and self-esteem, and increased engagement and satisfaction, leading to people living with rare disease feeling empowered as active partners in their care.¹⁴

When taking a shared decision making approach, health professionals and people living with rare disease jointly participate in decisions, having discussed all options and their potential benefits and harms.¹⁴ Shared decision making carefully considers each person’s values, preferences, and circumstances, and thus is a central tenet of person-centred care. Shared decision making can be carried out in relation to screening, management, investigations, and research.¹⁴

“Rather than empowering myself and my family by providing us with the knowledge and tools to take ownership of my condition, I found that I was given disjointed and often incomplete information, and that I did not have in place the preventive measures to protect myself in an emergency.”

How to progress Recommendation 1.1:

Partner with people living with rare disease in their care and support them in having active and informed partnerships with other health professionals. Empower them to be advocates and active participants in decision making. At the time of diagnosis and afterwards, proactively facilitate access to tailored, reliable, and understandable information about their rare disease. People can be supported both by providing credible information and equipping them to do effective research on their own. Explicitly address uncertainty with people living with rare disease, as this is a key step to building trust and expectation. These approaches all align with the preferences of people living with rare disease (see Figure 2).¹⁵

Figure 2: Tips for health professionals from people living with rare disease.¹⁶

The RARE Portal (Australian-based)¹¹ and the Genetic and Rare Diseases (GARD) Information Center (based in the United States of America [USA]) are key sources of reliable information.¹⁷ The RARE Helpline is a new free service which aims to provide timely access to information and answer key questions that people living with a rare and complex disease often face.¹⁸ See Appendix 2.2 for more examples.

Patient advocacy groups (see Recommendation 4) can also be excellent sources of curated and tailored rare disease information and education.¹⁹ Rare Voices Australia, the national peak body for Australians living with rare disease, has an A-Z Support Directory, which lists rare diseases and support groups/organisations where available.²⁰ Tips for assessing the credibility of support groups/organisations can be found in the A-Z Support Directory and in Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia on Rare Voices Australia’s Online Education Portal (Appendix 2.3).²¹

Building health literacy can enable people living with rare disease to critically assess the array of rare disease information on the internet more broadly, which can be overwhelming and unreliable at times. An article by Healthgrades²² discusses four key ways to do this (Appendix 2.4).

“Credible is the keyword there because I could look up anything online, I could put anything in Google. One thousand things pop up, but they all look legit. How do I know that’s actually something that I should be following or finding out more about?”

Encourage people living with rare disease to share their goals and give a clear plan of steps to take after the appointment. The Australian Commission on Safety and Quality in Health Care (ACSQHC)²³ have created tools to help clinicians in shared decision making with their patients (Appendix 2.5). Additionally, encourage and support people living with rare disease to use the Ask Share Know framework to improve the uptake of evidence-based practice and shared decision making (Appendix 2.5).²⁴

It is important to recognise that rare diseases are commonly associated with a range of disabilities, including physical, sensory, and intellectual disabilities. People living with rare disease often report that health information is not presented in a way that meets their communication needs or that the setting is not accessible.^25,26

Reasonable adjustments can help people with disabilities access and utilise health care. A reasonable adjustment is a change to an existing approach or process that is essential to ensure a person’s access to a health service.²⁷ Making reasonable adjustments for people with disabilities means doing things differently to ensure people are not disadvantaged or harmed and is a means of avoiding direct and indirect discrimination, and meeting the National Safety and Quality Health Service Standards.^27-29

“I reckon it’s very important to be inclusive, because I think people can feel unincluded, especially people who’ve got the condition, and they kind of feel left out of the picture, but I think it’s important for them to acknowledge the facts… in case they want to find out more about it.”

Examples of reasonable adjustments include:

• Using augmentative and assistive communication technologies
• Providing information in alternative formats, including Easy Read
• Allowing extra time
• Ensuring clinic rooms are accessible to those in a wheelchair.³⁰

For example, assessment of capacity for informed consent for diagnostic genomic testing cannot be made unless reasonable adjustments have been made first.³¹ Appendix 2.6 includes guides and toolkits for making reasonable adjustments.

It is also important to provide inclusive and individually appropriate rare disease health care for individuals who identify as gender and/or sexually diverse. For example, checking on people’s preferences for personal pronouns and following up-to-date guidelines regarding family tree (pedigree) drawing which both respect individual differences and identities while maintaining clinically meaningful information (Appendix 2.5).

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Recommendation 1.2

Recognise additional challenges faced by priority populations living with rare disease and consider how to appropriately tailor care.

Why this is important:

The Action Plan (Appendix 2.1) highlights that for the priority populations below, the common challenges faced by people living with rare disease are often exacerbated.

• Australians living with an undiagnosed rare disease: A large proportion of people suspected of having a rare disease remain on a diagnostic odyssey, which limits their access to appropriate care and supports. Recommendation 2 details positive actions health care professionals can take to facilitate a timely and accurate diagnosis.
• Australians with an increased chance of developing a rare disease or of having a child with a rare disease: See Recommendation 7 for actions that can be taken to promote screening choices and preventive options for rare diseases.
• Aboriginal and Torres Strait Islander people: Cultural safety is an approach that aims to address power imbalances between health professionals and patients to facilitate appropriate care, in an environment that is safe for everyone, including Aboriginal and Torres Strait Islander people.³² Key principles of cultural safety, which are critical for ensuring that Aboriginal and Torres Strait Islander people living with rare disease have equitable access to high quality rare disease care, are provided in Recommendation 1.3.
• People from culturally and linguistically diverse backgrounds: Australia is a multicultural society, with 28% of Australians born overseas (representing almost every country in the world) and 23% speaking a language other than English at home.³³ Recommendation 1.4 details strategies for tailoring care for culturally and linguistically diverse people living with rare disease.
• People experiencing socio-economic disadvantage: Socio-economic disadvantage can significantly impact people’s ability to access and navigate health and support services.³⁴ This can be compounded by the well documented financial impacts of living with rare disease. A key aspect of providing coordinated care for people living with rare disease is ensuring access to appropriate financial and disability supports as detailed in Recommendation 6.2.
• People living in regional, rural, and remote areas: People living further away from metropolitan centres have longer diagnostic odysseys and when they do travel for care, this can impact their education, employment, finances, and relationships, as partners and other children often stay at home. Recommendation 1.5 outlines how health professionals can reduce the barriers faced by people living with rare disease in regional, rural, and remote areas and thus improve wellbeing as well as support preventive measures, timely diagnosis and treatment, and reduced hospital presentations.

People from these priority populations often face more challenges in navigating health care systems and accessing appropriate care, including being diagnosed. There is often intersectionality across priority populations, creating further challenges. For example, someone at an increased risk of developing a rare disease and living in a rural or remote area. The financial impacts of rare diseases are often acute for priority populations: significant out-of-pocket costs, including the cost of private appointments due to challenges accessing specialists in a timely manner in the public system, and additional costs of therapies, aids, and loss of income due to caregiver responsibilities.^35-37

“I am one person and treat me as one person. Don’t treat me only for my (rare) condition or for my mental health or based on my age.”

How to progress Recommendation 1.2:

Priority populations require targeted activities to improve health and wellbeing outcomes so that no Australian living with rare disease is left behind. Monitoring the proportion of people living with rare disease from priority populations (for example, through practice audits) and their experiences with their care (for example, through patient reported outcome and experience measures and satisfaction surveys) can help tailor and improve the patient and family/carer experience.

If a particular gap is identified, a service that is more culturally safe, welcoming, inclusive, and accessible may be achieved through authentic co-design by partnering with people living with rare disease, peak bodies, and/or culturally appropriate advocacy services.

Learning from what has worked elsewhere is also helpful. There may be existing, evidence-based solutions to challenges of equitable access and care for other areas of health. For example, the Aboriginal Community Controlled Health services have been pioneering innovative models of care for decades (Appendix 2.7).³²

It is also evident that the financial impacts of rare diseases are significant and can compound health inequalities further.³⁷ A truly intersectoral approach to rare disease care is ideal, whereby access to practical supports such as the National Disability Insurance Scheme (NDIS) and carer’s supports are facilitated, as discussed in more detail in Recommendation 6.

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Recommendation 1.3

Practice in a culturally safe manner with Aboriginal and Torres Strait Islander people.

Why this is important:

Cultural safety is an approach that aims to address power imbalances between health professionals and their patients to facilitate appropriate care in an environment that is safe for them and their families.³² Aboriginal and Torres Strait Islander people experience unique challenges in accessing appropriate rare disease care. Factors include:³⁸

• Historical and ongoing experiences of individual and institutional racism that have contributed to trauma and mistrust in the healthcare system
• A higher proportion of Aboriginal and Torres Strait Islander people live outside major metropolitan areas, reducing their access to many specialist services
• Many Aboriginal and Torres Strait Islander people utilise Indigenous languages as their primary language, and accessing trained interpreters and communicating clinical terms and concepts can be difficult
• Misalignment between biomedical approaches and Indigenous holistic understandings of health, which encompass physical, social, emotional, and spiritual wellbeing
• Significantly for rare diseases, there is a paucity of responsible rare disease research and appropriate genetic reference databases.

“To this day I still don’t know if there is another Aboriginal person out there with what [son] has because I don’t think they had that information.”

How to progress Recommendation 1.3:

To provide culturally safe health care, health care professionals need to acknowledge and continually reflect on their own biases, positioning, attitudes, and assumptions, and how these may impact on the quality of care provided to patients. Culturally safe care considers questions of equity and access, integrates mental health, social and emotional wellbeing, and incorporates an understanding of the impacts of social determinants of health.³⁹

Key aspects of culturally safe care for Aboriginal and Torres Strait Islander people living with rare disease include:

• Accessing culturally relevant information and resources for people living with rare disease. For example, information about rare diseases and genetic health care from the Indigenous Genomics Health Literacy Project (IG-HeLP)⁴⁰ and the universal medical translator Lyfe Languages rare disease module⁴¹
• Incorporating culturally safe approaches to clinician-person communication. For example, by applying the Clinical Yarning framework⁴²
• Asking people if they would prefer co-consultation with culturally appropriate health advocates, and considering if rare disease care could be integrated into established and trusted services such as Aboriginal Community Controlled Health Organisations³²
• Using resources such as Lyfe Languages to translate medical terminology into Indigenous languages to support culturally safe care by facilitating improved communication and understanding.

Relevant enablers of culturally safe care are provided in Appendix 2.7, including key rare disease resources tailored to Aboriginal and Torres Strait Islander communities. Culturally safe care is not only the responsibility of individual health professionals, but also of health institutions and structures. The Australian Institute of Health and Welfare has a monitoring framework for Cultural Safety in Health Care for Indigenous Australians (Appendix 2.7).³⁹

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Recommendation 1.4

Practice in a culturally safe manner with people from culturally and linguistically diverse backgrounds.

Why this is important:

There is no universal definition of cultural and linguistic diversity, which can relate to country of birth, ancestry, language spoken, or religious affiliation.³³ For people of culturally and linguistically diverse backgrounds, accessing appropriate health care services and support may be impacted by:

• Language barriers
• Different understandings of health and expectations of health services
• Limited knowledge of the Australian health system
• Prior negative experiences with health care, whether in Australia or internationally
• Limited understanding and/or accommodation of diverse needs by individual health professionals, organisations, and systems.⁴³

How to progress Recommendation 1.4:

Gather as much information as possible about an individual to understand and respond to their personal context and needs. Factors like language, migration experience, education, and socioeconomic status vary hugely across the culturally and linguistically diverse population. Offer and facilitate access to medical translators and interpreters. Additionally, refer and work alongside service providers that offer tailored services to culturally and linguistically diverse people, including for mental health, palliative care, and disability services (services signposted in Appendix 2.8).

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Recommendation 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.

Why this is important:

People living with rare disease in regional, rural, and remote areas face many challenges in accessing rare disease diagnoses and care, including:

• Limited local health infrastructure
• Few or no local health professionals with experience in rare and undiagnosed diseases
• Higher cost of living pressures
• Lack of other support networks and services
• Logistical and financial barriers to travelling for care, including transport, accommodation, childcare, and leave from work.⁴⁴

These challenges can result in a longer diagnostic odyssey for people living further away from metropolitan centres.³⁷ When people living in regional, rural, and remote areas travel for care, this can impact their education, employment, finances, and relationships, as partners and other children often stay at home. Linking individuals with available services and resources that can help overcome these barriers can therefore improve wellbeing and support preventive measures, timely diagnosis and treatment, and reduce hospital presentations.

“My neurological team… are the people who do my prescriptions and order my tests for me because I still can’t find a GP in a regional location willing to share my rare journey.”

How to progress Recommendation 1.5:

At a systemic level, improving equity of access requires formal links between health providers in regions, metropolitan areas, and Centres of Expertise (see Recommendation 3). These links can be used to develop robust partnerships between individuals, carers, families, communities, and the public and private health sectors.

There are also actions that can be taken on an individual or practice level, targeting the five dimensions of access: availability, accessibility, accommodation, affordability, and acceptability.⁴⁵ For example:

• Mobile clinics and outreach programs
• Targeted training for local health professionals and carers
• Evolving technology such as point-of-care testing, teleradiology, e-Health, telehealth, and videoconferencing to help more people access expert rare disease care (for example, from a rare disease Centre of Expertise)
• Connecting people living with rare disease to external support services and funding such as Angel Flight,⁴⁶ the NDIS⁴⁷ and appropriate carer support and funding, for example through the Carer Gateway⁴⁸
• Seeking advice and support from the Australian College of Rural and Remote Medicine (ACRRM).

For resources to support people living in regional, rural, and remote areas, see Appendix 2.9.

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Summary of Recommendation 1

The following actions can facilitate a more tailored and person-centred approach:

• Scheduling longer appointment times, so that people can discuss the aspects of their life that are impacting, or being impacted by, their rare condition
• Allowing significant people in a patient’s life to attend appointments, as is culturally appropriate
• Offering flexible appointment formats such as telehealth and multidisciplinary clinics
• Tailoring communication styles to suit the socio-cultural preferences of the person and their family
• Being part of a cross-sector team with links between health, disability, education, and employment
• Building capacity for more community-based care.