A Word From Our CEO

Hi RVA Supporter,

Work on the Rare Awareness Rare Education (RARE) Portal has progressed steadily throughout 2025. The “provision of an accessible multi-purpose digital repository of information and resources for rare diseases, including available care and support services” is a key deliverable of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). To assist the rare disease sector in spreading the word about the RARE Portal, Rare Voices Australia (RVA) has developed a video and social media pack. Feel free to share these materials far and wide with your communities and networks to help promote the RARE Portal. Download the social media pack and watch the video below.

RARE Portal Refresh Update

The RARE Portal team has continued working on the RARE Portal website refresh. As we move closer to launching the refreshed site, we thank all stakeholders—particularly our RVA Partner group/organisation leaders—for their willingness to work with RVA to continue developing the RARE Portal. Your input into the RARE Portal is invaluable and has been central to informing the website refresh. We’re excited to showcase the sector’s work! Follow RVA’s social media channels and subscribe to our monthly eNewsletter using this form if you haven’t already to be among the first to know when the refreshed site launches.

Ongoing RARE Portal Development

RVA has adopted an iterative approach to RARE Portal development that prioritises collaboration and generating feedback from key stakeholders in the sector. This robust and extensive consultation process remains central to the RARE Portal’s ongoing development. While paramount to the quality of content on the site, this process is also time consuming. Our team continues to progress several pages for all interviews conducted to date and is working to publish these pages as soon as possible.

Initial development of the RARE Portal was funded by the Australian Government with RVA receiving $1 million over three years from 1 July 2021 to 30 June 2024 to lead the collaborative development of the RARE Portal and other education activities. We are pleased that funding for the RARE Portal will continue until at least September 2025. Heading into the end of financial year on 30 June, all donations made to RVA will further accelerate RARE Portal development. RVA is a registered charity and has Direct Gift Recipient (DGR) endorsement. All donations over $2 (AUD) are tax deductible. You can donate via RVA’s website.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

National Strategic Action Plan for Rare Diseases

In 2020, the Minister for Health launched the National Strategic Action Plan for Rare Diseases (the Action Plan). RVA led the collaborative development of the Action Plan, which has three interrelated Pillars. 

The RARE Portal has been funded by the Australian Government and is a key deliverable of the Action Plan. ‘Multi-stakeholder involvement and engagement’ and ‘collaborative governance and leadership’ are critical enablers of the Action Plan, while ‘person-centred’ and ‘equity of access’ are foundation principles. These critical enablers and foundation principles will continue to inform the RARE Portal’s development.

RARE Helpline

The RARE Helpline provides service navigation support for rare and complex diseases. It aims to provide timely access to information and answer key questions people living with a rare and complex disease often face.

The RARE Helpline:

• Supports people to connect with existing information that is reliable

• Provides resources that respond to people’s specific needs

• Helps to increase people’s health literacy and engagement with care and support services

• Assists in connecting people with existing health services and/or professionals where possible

Contact Information and Hours

Phone: 0499 549 629
Hours: Monday to Friday 9am – 5pm (AEST)

Note: In the event of an emergency, call an ambulance on 000 or these support lines:

Suicide Call Back Service – 1300 659 467

Lifeline 24-hour counselling – 13 11 14

13Yarn - 13 92 76

Ongoing Multistakeholder Consultation Process

Thank you to the stakeholders who have participated in the ongoing RARE Portal consultation process. We especially thank our RVA Partners (rare disease groups/organisations) that have participated to date and have co-developed, or are currently co-developing, rare disease pages. RVA will continue reaching out to other RVA Partners (rare disease groups/organisations) with an invitation to participate in the ongoing development of the RARE Portal.

Additions to the RARE Portal Since December 2024

Rare Disease Pages:

• Batten disease (Neuronal Ceroid Lipofuscinosis) (co-developed with RVA Partner, Batten Disease Support and Research Association Australia)

• Danon disease
• Duchenne muscular dystrophy (DMD) (co-developed with RVA Partner, Save Our Sons Duchenne Foundation)
• Ehlers-Danlos syndromes (EDS) (Group of Conditions) (co-developed with RVA Partner, Connective Tissue Disorders Network Australia (CTDNA), and a lived experience expert)
• Epidermolysis bullosa (EB) (co-developed with RVA Partners, DEBRA Australia and EB Research Partnership Australia)
• Pitt-Hopkins syndrome
• Punctate Inner Choroidopathy (PIC)
  

• Sarcoidosis

• SATB2 Associated Syndrome (co-developed with RVA Partner, SATB2 Connect) 

• Spinocerebellar ataxias (Group of Conditions) 

• TCF20-related disorder

• White-Sutton syndrome
• 17q12 microdeletion syndrome
• 47,XYY syndrome

Thank you to RVA Partner, Batten Disease Support and Research Association Australia (BDSRA Australia), for codesigning the Batten disease (Neuronal Ceroid Lipofuscinosis) page with the RARE Portal team. BDSRA Australia is dedicated to improving the well-being of people and families affected by Batten disease in Australia.

Thank you to RVA Partner, Connective Tissue Disorders Network Australia (CTDNA), for codesigning the Ehlers-Danlos syndromes (EDS) (Group of Conditions) page with the RARE Portal team. CTDNA was established in early 2024 to empower Australians impacted by heritable connective tissue disorders through advocacy, education, and collaboration.

Thank you to RVA Partner, Save Our Sons Duchenne Foundation, for codesigning the Duchenne Muscular Dystrophy (DMD) page with the RARE Portal team. Save Our Sons Duchenne Foundation's vision is to find a cure for Duchenne and Becker muscular dystrophy whilst actively working to ensure enhanced quality of life (including quality of educational opportunities) for the young people and families affected by this condition.

Thank you to RVA Partners, DEBRA Australia and EB Research Partnership Australia for codesigning the Epidermolysis Bullosa (EB) page with the RARE Portal team.

DEBRA Australia provides support to those living with EB, including essential services such as the EB Nurse and Family Support Program, medical supplies, aids and equipment, and EB research.

EB Research Partnership Australia's mission is to invest in science and medical research that will lead to the treatment and ultimately a cure for EB.

Thank you to RVA Partner, SATB2 Connect, for codesigning the SATB2 Associated Syndrome page with the RARE Portal team. SATB2 Connect aims to advocate for those diagnosed with SATB2 Associated Syndrome, raise awareness and educate the public and health professionals, and support research in SATB2 Associated Syndrome in Australia.