While there is a large variation among rare diseases, people living with a rare disease face common challenges. The most widely accepted definition is that a rare disease is one that affects less than five in 10,000 people. COVID-19 has exacerbated the challenges and uncertainty for the estimated two million Australians living with a severe, chronic and often disabling rare disease. Heightened preventative measures and personalised, collaborative and consultative approaches to treatment and care are needed to protect Australians living with a rare disease throughout the pandemic. Systemic, nuanced, flexible and coordinated responses that take into account the lessons learned to date, are required.
The National Strategic Action Plan for Rare Diseases (the Action Plan) is the first nationally coordinated effort to address rare diseases in Australia. Rare Voices Australia (RVA) led the collaborative development of the Action Plan and is now leading its collaborative implementation. The Action Plan has three interrelated Pillars: Awareness and Education; Care and Support; and Research and Data. The Action Plan outlines a comprehensive and evidence-based approach to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease, while remaining flexible enough to respond to changing policy contexts, such as the challenges faced amid a global pandemic.
As the peak body for Australians living with a rare disease, RVA’s advocacy around the pandemic has been guided by the Action Plan and listening to feedback from our RVA Partners. One example is the decision by the Life Saving Drugs Program (LSDP) to support rare disease patients by extending the standard 1 May reapplication deadline for up to six months. RVA also drew on the Action Plan to formulate a position statement in conjunction with our Scientific and Medical Advisory Committee (SMAC) in April 2020 regarding COVID-19. The position statement outlines measures to ensure the rare disease community is protected and considered in the national pandemic response. The statement addresses triaging; clinical care guidelines informed by rare disease experts; continuity and coordination of care; stricter isolation and enhanced testing; and increased utilisation of digital health, including telehealth.
Delays to care for people living with a rare disease can have dire consequences and result in irreversible disease progression.
Given Australia has now been living with the reality of COVID-19 since early 2020, it is crucial that we consider the lessons gained from the past year. In June 2020, the Continuity of Care Collaboration (CCC) released survey results indicating that 52% of respondents had delayed or avoided a medical appointment in the last three months. Respondents admitted being worried they would be near people with COVID-19 if attending health appointments (59%), while others were concerned about taking public transport to health appointments (36%). Delays to care for people living with a rare disease can have dire consequences and result in irreversible disease progression. Continued access to ongoing treatment is imperative.
RVA’s SMAC has identified the following lessons while working with people living with a rare disease throughout the pandemic.
Special requirements are essential for access to ongoing treatment for those with available therapies
Where appropriate and possible, patients with available therapies should be placed on home therapy programs to best navigate travel restrictions and screening processes at institutions. As there is a large variation among rare diseases, customised and person-centred care is critical.
In most cases, treatment should continue for rare disease patients diagnosed with COVID-19
The default position should always be to continue therapy (and in some cases, consider earlier or altered dosing depending on the patient’s needs) when a rare disease patient is diagnosed with COVID-19. If a patient’s rare disease is under control, it is understood that they will likely have a better chance of tolerating COVID-19 (and its treatment), as opposed to patients where therapy is postponed.
Telehealth is a very important element of health care delivery, however, it has its limitations and challenges
RVA welcomes the increased adoption of telehealth services, noting that in line with the Action Plan, the utilisation of digital health, including telehealth, will increase equity of access to services for people living with a rare disease. However, it’s important to note that while many people have embraced telehealth and its convenience, it does have its limitations and challenges. The number of telehealth appointments do not necessarily equate to the same number of in-person visits in terms of quality of care. For many rare disease patients, telehealth acted as a temporary measure until health professionals were able to see people face-to-face.
RVA’s SMAC also reports that health professionals are now seeing patients whose conditions have deteriorated for a number of reasons such as hospital services being shut down; people being too afraid to go to hospitals; people not wanting to take up resources that may be needed for COVID-19 patients; and people being deferred in anticipation of an influx of COVID-19 cases.
The Action Plan identifies a number of Priority Populations including Aboriginal and Torres Strait Islander people; people living in regional, rural and remote areas, people from culturally and linguistically diverse (CALD) backgrounds; and people experiencing socio-economic disadvantage. For these populations, barriers to equitable telehealth service provision can include:
- Language issues
- Internet and other infrastructure access challenges
- Privacy and consent challenges
- For those with very complex, multi-system rare diseases, the ability to provide an assessment and thorough examination via telehealth is limited at best
COVID-19 has presented key learnings for ongoing systemic policy change. The pandemic has reiterated the need to better capture the voice of people living with a rare disease and then effectively communicate this dialogue back to decision-makers. In line with the Action Plan, developing the capacity of rare disease organisations to represent their community to stakeholders such as Government, is critical. Meanwhile, the use of telehealth and state and federal Governments working together more effectively and consistently, is encouraging. Importantly, this presents us with opportunities that can be leveraged for long-term use.
About the author:
Nicole Millis the Chief Executive Officer (CEO) of Rare Voices Australia (RVA). A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. Nicole has over 12 years’ experience in rare disease advocacy, particularly in regard to access to treatments. Since 2018, Nicole has held the role of consumer nominee on the Life Saving Drugs Program Expert Panel. Under Nicole’s guidance, RVA led the collaborative development of the National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.
