Rare Disease Resources for Regional, Rural and Remote Communities

This collection of helpful links is for people who have rare diseases and live in regional, rural, or remote places in Australia. These links have been put together as part of the Australian Government’s plan to help Australians with rare diseases. This plan is called the National Strategic Action Plan for Rare Diseases (the Action Plan).¹ If you’d like to know more about the plan, or about Rare Voices Australia (RVA), visit RVA’s website.

The links on this page aren’t all about rare diseases. They also have information on things connected to rare diseases. This collection is meant to help people living with rare diseases in country or remote Australia. It will:

• Give you a place to start learning.
• Make it easier to get the help you may need for a rare disease.

RARE Helpline

If you are looking for information about rare diseases, you can contact the RARE Helpline on +61 (0)499 549 629. The RARE Helpline is open Monday to Friday 9:00am to 5:00pm (AEST). For more information, please visit the RARE Helpline webpage.

Please note: All links listed here are for services that can help people across Australia. If you want help that’s more specific to where you live, you can use Ask Izzy and put in your postcode. If you are looking for information about rare diseases, please go to the Rare Awareness Rare Education (RARE) Portal.

Regional, Rural and Remote Organisations

There are groups that help people living in regional, rural, and remote areas. We have listed two national organisations that may be able to support people living with rare diseases living in country Australia.

Preconception and Pregnancy

When you’re trying to have a baby, and when you are pregnant, getting tests and taking care of yourself is important. Finding and treating rare diseases fast helps to make sure babies don’t get sicker or pass away.

The links below can give you information about the tests you can do before and during pregnancy that will help find rare diseases.

Life Transitions

Moving from children’s healthcare to adult healthcare or getting special care for serious illnesses can be hard. When someone has a rare disease, moving from one system to another can be even tougher. Your health care team may call these changes ‘transitions’.

The disease and care needed might be complicated, and new doctors and nurses may know about the disease. This can make it tricky for people with rare diseases to think about the future and how it can make them and their families feel.²

These links can help with some of the big life changes people with rare diseases may face moving from one form of care to another.

Disability and the National Disability Insurance Scheme (NDIS)

 

“While not every person with a rare disease will have an associated disability, those who do will often require assistance in activities of daily living. However, unlike many other conditions that cause disability such as intellectual disability or paraplegia, rare diseases often progress over time and change the nature of an individual’s needs.”

 

– Angela Jackson, ‘Disability & Rare Disease: Towards Person Centred Care
for Australians with Rare Diseases’, 2019 ³

People living with a rare disease who have a disability should be able to get help for their disability. These tools can give information about the help you can get for your disability

Aged Care

Because rare diseases are complicated, people who have them may need extra help when they get older. These tools explain the help available for older people.

Advocacy and Self-Advocacy

Speaking up for others is called advocacy. Speaking up for yourself is called self-advocacy. People who help those with rare diseases, like doctors and carers, might not know much about these diseases and how they affect people. That’s why people living with rare diseases might need to advocate for themselves or their family to make sure they get what they need.⁴

These links have information and tools that help you learn to speak up for yourself and others. The links also tell you about help you can get advocating for yourself if you live in regional, rural, or remote areas.

Mental Health and Wellbeing

Living with a rare disease can affect how someone feels and their overall wellbeing. The stress can also affect the people who are caring for them. When someone has a rare disease, it may take a while to find out what’s wrong and get proper help, and this can make people living with rare diseases feel unsure and alone.⁵

Getting help for how you feel is important. The links below may connect you with the right resources. These resources are not for emergencies but can still be helpful.

Carer Resources

Caring for someone living with a rare disease can often be tough physically, mentally, and emotionally.

Carers are often involved in:

• Making and going to medical appointments.
• Giving medicine and helping with therapy.
• Providing personal care.
• Advocating for the person with the condition.⁶

Many carers for people living with a rare disease often experience impacts on their quality of life and mental wellbeing.⁵ Carers living in a regional, rural, or remote area often experience extra barriers when providing care.

These resources are for people who provide informal support and care to someone with a rare disease.

Government Services

The Australian and State Governments offer different kinds of help for people living with rare diseases. This can be money to help live, help for carers, and other kinds of support.

The resources below include information about government help available to those that live in regional, rural, or remote areas.

Genetics and Genomics

Around 80% of all rare diseases are believed to come from genes.⁷ Knowing about genes, and how they work can help people with rare diseases to:

• Ask for tests that look at genetics and talk about genetic medicines that may help them.
• Talk to their family about conditions that run in the family and the chance they may also have a rare disease too.⁷

There are not many resources on genomics and genetics written specifically for the regional, rural and remote community in Australia. This makes it harder for people in the country to get help with genetics. Below are links to general information on genetics and genomics.

Research and Clinical Trials

What clinical trials are, how they work, and how to get involved can be confusing. These resources provide a good starting point for learning more about clinical trials and how to access them.

Data Sovereignty (Data Ownership)

When people go to the doctor and access services, a lot of information is collected about them.⁸ Understanding who owns the data that is collected, and how this knowledge is used or could be used, will help people living with rare diseases make smart choices around their data and safety.

Acknowledgments

The National Rural Health Alliance were consulted in the development of this collection of resources. You can learn more about how we collaborated and what we looked at when adding resources to this collection by reading the ‘Developing the ‘Rare Disease Resources for the Regional, Rural, and Remote Communities’ Collection‘ Report.

Suggestions and Feedback

We invite anyone to provide suggestions and feedback about this page or the resources listed by using our Suggestions and Feedback form.

Disclaimer

RVA provides this information to consumers for educational purposes only. Please see our Terms of Use for further information.

References

1. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases [Internet]. 2020 p. 1–63. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
2. Zurynski YA, Elliott EJ. Challenges of transition to adult health services for patients with rare diseases. The Medical Journal of Australia [Internet]. 2013 Jun 17;198(11):575–6. Available from: https://pubmed.ncbi.nlm.nih.gov/23919688/
3. Jackson A. Disability and Rare Disease: Towards Person Centred Care for Australians with Rare Diseases. [Internet]. Rare Voices Australia. New South Wales, Australia: McKell Institute; 2019 [cited 2023 Jul 13] p. 1–31. Available from: https://rarevoices.org.au/wp-content/uploads/2020/09/DisabilityRareDisease2019.pdf
4. Centre for Culture, Ethnicity, & Health (CEH). Consumer Participation and Culturally and Linguistically Diverse Communities [Internet]. Centre for Culture, Ethnicity, and Health; 2017 [cited 2021 Aug 6] p. 1–32. Available from: https://www.ceh.org.au/wp-content/uploads/2019/10/Consumer-Participation-and-CALD-Communities-ST-20191016.pdf
5. Spencer-Tansley R, Meade N, Ali F, Simpson A, Hunter A. Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Services Research [Internet]. 2022 May 14;22(1). Available from: https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-022-08060-9
6. Sandilands K, Williams A, Rylands AJ. Carer burden in rare inherited diseases: a literature review and conceptual model. Orphanet Journal of Rare Diseases [Internet]. 2022 Dec 9 [cited 2023 Jan 28];17(1). Available from: https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02561-w
7. Frederiksen SD, Avramović V, Maroilley T, Lehman A, Arbour L, Tarailo-Graovac M. Rare disorders have many faces: in silico characterization of rare disorder spectrum. Orphanet Journal of Rare Diseases [Internet]. 2022 Feb 22 [cited 2022 Apr 13];17(1). Available from: https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02217-9#:~:text=Approximately%2080%25%20of%20rare%20diseases,facing%20in%20rare%20disease%20diagnostics%3F
8. German Ethics Council. Big Data and Health – Data Sovereignty as the Shaping of Informational Freedom [Internet]. Berlin; 2017 [cited 2023 Jul 20] p. 1–52. Available from: https://www.ethikrat.org/fileadmin/Publikationen/Stellungnahmen/englisch/opinion-big-data-and-health-summary.pdf