A Word From Our CEO

Hi RVA Supporter,

Work on the Rare Awareness Rare Education (RARE) Portal continues to progress steadily. 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). The Action Plan is the first nationally coordinated effort to address rare disease in Australia.

Initial development of the RARE Portal was funded by the Australian Government with Rare Voices Australia (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 has been extended and will continue until at least 30 November 2026.

An iterative approach to RARE Portal development that prioritises collaboration and collecting feedback from key rare disease stakeholders, remains central to the RARE Portal’s ongoing development. This robust and extensive consultation process has been key to establishing the RARE Portal as Australia’s growing national resource for rare diseases.

Thank you to all stakeholders, particularly rare disease organisation leaders, for working with RVA to continue developing the RARE Portal. RVA will continue reaching out to RVA Partner organisations with an invitation to participate in the ongoing development of the RARE Portal. All stakeholders are welcome to reach out via our Contribute page. Stakeholder input into the RARE Portal is invaluable and central to informing the website.

Help Us Improve the RARE Portal

Speaking of stakeholder input, RVA utilises several approaches to inform improvements to the RARE Portal, including consultations with rare disease organisation representatives and collecting information from other stakeholders through the Contribute page. Additionally, we are seeking your feedback through a short 2-minute survey, which will remain open until Friday, 10 July 2026. Complete the survey. Your feedback helps us to continue improving the RARE Portal.

RARE Help Resource: Answers to Frequently Asked Questions 

The RARE Help page consists of several resources that have been codesigned and evaluated by Australians living with a rare disease. The page includes resources that address some of the most common questions RVA receives as the national peak body for Australians living with a rare disease. The page houses over 10 resources with more content to be added before 30 June 2026.

RARE Portal Video

Thank you for continuing to spread the word about the RARE Portal with your networks! We have recently refreshed our RARE Portal video. We encourage you to share the video and RARE Portal flyer with your networks.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

RARE Help

The RARE Help page consists of resources that have been codesigned and evaluated by Australians living with a rare disease. The page consists of resources to address some of the most common questions RVA receives as the national peak body for Australians living with a rare disease. More resources will be added to the RARE Help page before 30 June 2026.

Survey: Help Us Improve the RARE Portal

RVA utilises several approaches to inform improvements to the RARE Portal, including consultations with rare disease organisation representatives and collecting information from other stakeholders through the Contribute page. Additionally, we are seeking your feedback through a short 2-minute survey, which will remain open until Friday, 10 July 2026. Your feedback helps us to continue improving the RARE Portal.

Additions to the RARE Portal Since December 2025

Rare Disease Pages:

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 organisations) that have participated in consultations and co-developed rare disease pages. RVA will continue reaching out to other RVA Partners with an invitation to participate in the ongoing development of the RARE Portal.

Thank you to the Australian Sickle Cell Advocacy Inc. and RVA Partner, Thalassaemia and Sickle Cell Australia, for co-developing the Sickle cell disease page with the RARE Portal team.

Australian Sickle Cell Advocacy Inc. is an advocacy and support organisation based in Australia that works to raise awareness about sickle cell disease and improve the lives of individuals affected by this condition.

Thalassaemia and Sickle Cell Australia is a support and advocacy organisation for Australians living with genetic haemoglobin conditions.

Thank You to the Australian Thyroid Foundation

Thank you to the Australian Thyroid Foundation for co-developing the Primary congenital hypothyroidism page with the RARE Portal team.

The Australian Thyroid Foundation provides Australians with patient education, individual support & advocacy with thyroid cancer, all thyroid related conditions, prevention of iodine deficiency & good thyroid health.

Thank you to RVA Partner, Children's Tumour Foundation, for co-developing the Neurofibromatosis type 1 page with the RARE Portal team.

The Children’s Tumour Foundation is a patient advocacy and support service for kids, adults and families impacted by all types of neurofibromatosis, including NF1, NF2-related schwannomatosis and schwannomatosis.

Thank you to RVA Partners, Connective Tissue Disorders Network Australia (CTDNA) and Marfan Association Queensland, for co-developing the Marfan syndrome page with the RARE Portal team.

CTDNA is the collaborative effort of people both living with and/or caring for those with heritable connective tissue disorders (HCTD). CTDNA seeks to establish a national network of lived experience advocates, healthcare professionals and researchers with an interest in HCTD to better the care and management of Australians impacted by HCTD.

Marfan Association Queensland is a volunteer run support group for people and families affected by Marfan syndrome and related conditions.

Thank you to RVA Partner, FOP Australia, for codesigning the Fibrodysplasia Ossificans Progressiva (FOP) page with the RARE Portal team.

FOP Australia is a volunteer-run registered charity supporting people with FOP in Australia and New Zealand. This work includes supporting the global research effort, improving local clinician access to international expertise, and working with IFOPA.

Thank you to RVA Partner, Myeloproliferative Neoplasms Alliance Australia (MPN AA), for codesigning the Myeloproliferative neoplasms page with the RARE Portal team.

The MPN Alliance Australia is run by MPN patients for MPN patients. The patient-led advocacy group collaborates with the Leukaemia Foundation of Australia with the common goal of achieving better outcomes for Australian MPN patients.

We thank clinical haematologist Professor Andrew Grigg for providing their input.

Thank you to RVA Partner, Leukodystrophy Australia, for co-developing the Leukodystrophy and X-linked adrenoleukodystrophy (X-ALD) pages with the RARE Portal team.

Leukodystrophy Australia is the national peak organisation representing people impacted by leukodystrophy. Leukodystrophy Australia collaborates with local, national and international stakeholders to advance the care of their members, improve quality of life and ultimately seek a cure for leukodystrophy.

We thank Dr Michel Tchan (Clinical and Metabolic Geneticist, Head of Department of Genetic Medicine at Westmead Hospital, NSW) and Dr David Manser (Neurologist and Staff Specialist, Department of Genetic Medicine at Westmead Hospital, NSW) for providing their input.

Thank you to RVA Partner, PURA Foundation Australia, for co-developing the PURA syndrome page with the RARE Portal team.

PURA Foundation Australia was established to raise awareness, provide education, and support research for individuals diagnosed with PURA syndrome and their families across Australia and New Zealand.

We thank Professor Michael Hildebrand, Professor Richard Leventer and Dr Miya St John for their input.

Thank You to Rare Cancers Australia

Thank you to RVA Partner, Rare Cancers Australia, for co-developing the rare cancers page with the RARE Portal team.

Rare Cancers Australia aims to improve awareness, support and treatment of Australians with rare and less common (RLC) cancers. The Rare Cancers Australia’s KnowledgeBase provides information about specific cancers as well as information about relevant services that are available.

Thank you to RVA Partner, SCN2A Australia, for co-developing the SCN2A-related conditions page with the RARE Portal team.

SCN2A Australia’s mission is to improve the lives of individuals and families affected by SCN2A-related disorders. They are dedicated to raising awareness, providing support, fostering research, and advocating for better resources and treatments.

Thank you to RVA Partner SMA Australia and Professor Michelle Farrar, for co-developing the Spinal muscular atrophy (SMA) page with the RARE Portal team.

SMA Australia is the peak consumer body for people living with SMA, supporting families for over 20 years since its foundation in August 2005, evolving from one-on-one family support to national advocates for access to the latest SMA treatments.

Professor Michelle Farrar is a Professor of Paediatric Neurology at the UNSW Sydney and specialist child neurologist at the Sydney Children’s Hospital. Professor Farrar was a lead clinician on the SMA newborn bloodspot screening pilot program across NSW and ACT.

Thank you to RVA Partner, Tuberous Sclerosis Australia, for co-developing the Tuberous sclerosis complex (TSC) page with the RARE Portal team.

Tuberous Sclerosis Australia (TSA) is an Australian charitable organisation that supports people with TSC. They provide information, advice and support for anyone in Australia that is affected by TSC.