Supporting the Mental Health and Wellbeing of People Living with a Rare Disease
Living with a rare disease can have a significant effect on a person’s mental health and wellbeing. As Maria, Elijah and Angela highlight, challenges to mental health and wellbeing may surface at any time and can also impact those caring for people with a rare or undiagnosed rare condition.
This resource is designed to be used in conjunction with Maria, Elijah and Angela’s case studies. You’ll find information about reliable resources, information and support pathways for health professionals working with people living with a rare disease in this resource.
Angela’s Case Study
Elijah’s Case Study
Maria’s Case Study
About Rare Diseases and Mental Health and Wellbeing
- A higher prevalence of stress, anxiety and depression occurs in people living with a rare disease when compared with the general population.1
- 90% of Australian families living with a rare disease report that the psychological impact of living with a rare disease is high.2
- 80% of people living with a rare disease feel not being believed by health care professionals can have a negative influence.3
- Although there are around 2 million Australians living with a rare disease4, mental health assessments and treatments are not routinely offered as part of rare disease management and treatment.5
Unique Challenges of Living with a Rare Disease
People living with a rare disease, their carers and family members have identified the following unique challenges:
- Enduring uncertainty due to a lack of knowledge about rare diseases.
- Invalidating and difficult experiences with the healthcare system, especially during the journey to establish a diagnosis or while remaining undiagnosed.
- Isolation, loneliness and stigma due to the limited number of people with shared lived experience.
- Low awareness of their particular disease, meaning people often have the burden of being the ‘expert’, even in health care settings.
- Unclear treatment pathways and lack of treatment options.
- Prolonged challenges and significant life upheaval.
About the Case Studies
The case studies were developed with grant funding from the Australian Government as part of the Rare Awareness, Education, Support and Training (RArEST) Project. More information about the RArEST Project can be found on Rare Voices Australia’s (RVA) website.
The case studies have been informed by a landscape analysis of rare disease and mental health and wellbeing in addition to consultation with rare disease group/organisation leaders, rare disease clinicians and researchers, mental health professionals and the RArEST Project Stakeholder Reference Group (SRG).*
In-depth interviews were conducted with 10 individuals living with a rare disease to understand their lived experience. Experiences were collected from a diverse group, including those diagnosed with a rare disease, parents and carers, people suspected of having an undiagnosed rare disease, people from a range of age groups and disease types, and people from diverse cultural backgrounds. The case studies are an amalgamation of the experiences and perspectives described in these interviews.
The RArEST Project SRG and interviewees highlighted that an important way to acknowledge their lived experience is through validating the complex and ongoing challenges uniquely associated with living with a rare disease. Prioritising accessible, affordable and flexible care options to address access barriers specifically identified by the rare disease community should be a part of care considerations. A person-centred approach is key.
*The RArEST Project SRG is a group of people living with a rare disease from diverse backgrounds, including Aboriginal and Torres Strait Islander people; those from culturally and linguistically diverse (CALD) backgrounds; people living in regional, rural and remote Australia; people suspected of having an undiagnosed rare disease; and people with a rare condition and a disability.
Supporting People Living with a Rare Disease
Feedback from people living with a rare disease suggests mental health professionals can provide support to someone with a rare disease by:
- Supporting health literacy to reduce the burden on people to educate health care professionals by developing an understanding of the rare disease if they are familiar with the condition. Helpful rare disease information resources are listed below.
- Acknowledging and recognising the expertise and knowledge a person has about the rare condition and incorporating this while working together.
- Exploring the person’s experience and the impact of the rare disease on their daily life and emotional wellbeing.
- Considering what is unique to the experience of living with a rare disease and the additional challenges of living with a chronic, complex condition.
- Exploring past experiences navigating the health system, both positive and negative. What have they found helpful? Have they had distressing experiences, been faced with delayed diagnosis or a misdiagnosis? Discussing what a helpful partnership would look like is ideal.
- Recognising, acknowledging, and validating the complexity and ongoing difficulty of living with a rare or undiagnosed rare disease when introducing potential skills to build and strategies.
- Identifying helpful resources for supporting emotional wellbeing and social connection, in particular peer and patient supports where available. Recommended resources can be found below.
- Validating and acknowledging the lived experience of the person, both in terms of living with a rare disease and navigating health and support systems with limited understanding of the condition.
Helpful Resources
Each of the case studies highlights the value and importance of credible information, peer support and working with health professionals who are informed and proactive. This section outlines information and resources for mental health professionals and people living with a rare disease. The following resources have been selected to respond to feedback from people living with a rare disease about what is helpful for them and to provide helpful approaches highlighted by Maria, Elijah and Angela in the case studies.
Rare Disease Information Resources
The following websites provide evidence-based information about rare diseases.
The Rare Awareness Rare Education (RARE) Portal is a multistakeholder resource about rare diseases and associated supports customised for the Australian context. (Note: the RARE Portal is a living website with new information added regularly. Certain rare diseases may not have been added at this time.)
Rare Voices Australia is the national peak body for Australians living with a rare disease.
A free public health rare disease information resource managed by the National Institutes of Health in the Unites States of America.
An internationally recognised information resource and database offering up to date clinical information on rare diseases.
Rare Disease Support Resources
This section outlines a selection of supports for people living with a rare disease. Mental health professionals can use these resources to identify peer, social and community support, service navigation and information resources.
The following websites provide information on rare disease support groups/organisations as well as the RARE Helpline.
A directory of rare disease patient groups/organisations categorised by condition, including those based in Australia.
A helpline that provides information, capacity building and service navigation support for Australians living with a rare and complex disease.
This resource assists those working with the rare disease community with Mental Health First Aid (MHFA) and was developed in consultation with people living with a rare disease. The course complements MHFA training.
Resources tailored to the rare disease community that directly address mental health and wellbeing are not widely available. Below are some resources that explore mental health and wellbeing themes.
Resources for Health Professionals Working with People Living with a Rare Disease
These resources have been codesigned with people living with a rare disease, health professionals and rare disease experts for health professionals working with people living with a rare disease.
This resource, co-designed with people living with a rare disease, provides education to health professionals and includes a module on mental health and wellbeing.
A free, innovative video conferencing model that connected providers to the multidisciplinary RArEST Project team. Two series of this clinical Community of Learning Practice were held in 2022 and 2023 with resources available online, including a module on mental health and wellbeing.
This resource has been accepted as a clinical resource by the Royal Australian College of General Practitioners (RACGP), the Australian Primary Health Care Nurses Association (APNA) and has been endorsed by RVA and 10 professional and peak bodies. It includes recommendations for Australian health professionals on mental health and wellbeing.
Priority Populations
The case studies have provided a snapshot of some of the experiences of people living with a rare disease. Although consideration has been made to provide diverse representation, not all groups were captured. The RArEST Project also wish to acknowledge that some people in the community face additional challenges not explored in these videos. We encourage health professionals to reflect upon and consider additional challenges people may face. The following resources may be useful in doing so.
- RVA’s Online Education Portal has free resources for:
Aboriginal and Torres Strait Islander people living with a rare disease
People from culturally and linguistically diverse backgrounds living with a rare disease
People from regional, rural and remote communities living with a rare disease
References
Bailey M. A Mental Health Perspective. In: Huml RA, editor. Rare Disease Drug Development: Clinical, Scientific, Patient, and Caregiver Perspectives [Internet]. Springer Nature. 2021. p. 75–88. https://link.springer.com/book/10.1007/978-3-030-78605-2
Anderson, M., Elliott, E.J. & Zurynski, Y.A. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 8; 2013. https://doi.org/10.1186/1750-1172-8-22
Rare Disease UK. Living with a rare condition: the effect on mental health (2018) – Rare Disease UK [Internet]. www.raredisease.org.uk. 2018. Available from: https://www.raredisease.org.uk/our-work/patient[1]empowerment/living-with-a-rare-condition-the-effect-on-mental-health-2018 2
Australian Government. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet Journal of Rare Diseases; 2016.11(1). https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0409-z
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