Sector-Wide Evaluation: National Strategic Action Plan for Rare Diseases Implementation

The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in February 2020, over two years ago. Since that time, the rare disease sector has been collaboratively progressing implementation of the Action Plan. To gauge how far we have come, Rare Voices Australia (RVA) is leading an evaluation of the sectors’ collective efforts. The aim of this evaluation is not only to map what is being done and what has been achieved, but also to highlight any gaps in the sector’s progress and any areas where we can encourage greater collaboration and prevent duplication.  

To encourage cross-sector participation in Action Plan evaluation, RVA have chosen a simple tool—Google Jamboards—where each stakeholder group can share current, past or forthcoming projects, initiatives, tools, resources, networks and processes. These Jamboards are active currently and will remain open until 17 October 2022. If you have progressed implementation of the Action Plan but have not received an email with information and a link to a Jamboard, please contact Falak Helwani, RVA’s Research and Evaluation Manager at or call 0448 505 184.  

The results of this mapping exercise will demonstrate how far the sector has come and what is left to do. The results will be shared at the 2022 National Rare Disease Summit (Summit) in November and inform Summit Workshops (for in-person Summit attendees only). During these small group workshops there will be an opportunity to discuss the most urgent gaps in Action Plan implementation and who could or should be responsible for furthering progress in those specific gap areas. Participants will be asked to share any activities that were not captured via the Jamboards and encouraged to identify any obvious duplication or risk for duplicated efforts. RVA hopes this exercise will facilitate increased collaboration among stakeholders with similar objectives (if any) and guide next steps to fill the gaps for full implementation of the Action Plan.

RVA is looking forward to the outcomes of this work and to showcasing the collective efforts of the rare disease sector. Thank you to those who have already contributed to this exercise. Your involvement is appreciated.

For more information or if you have any questions about this work, please contact Falak Helwani at or call 0448 505 184.

Rare Voices Australia Parliamentary Event – 5 September 2022

Rare Voices Australia (RVA) thanks everyone who attended our Parliamentary Event in Canberra today hosted by the Chair of the Standing Committee on Health, Aged Care and Sport, Dr Mike Freelander MP. We thank Dr Freelander, Member for Macarthur and Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases, and the following Parliamentarians who spoke at the event:

  • Hon Ged Kearney MP, Assistant Minister for Health and Aged Care
  • Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care
  • Dr Monique Ryan, Member for Kooyong and Co-Chair, Parliamentary Friends of Australians Living with Rare Diseases

RVA has been working with Dr Freelander to re-establish the Parliamentary Friends of Australians Living with Rare Diseases, which both he and Dr Ryan referred to at today’s event.

Special thanks to our RVA Ambassadors and the RVA Partner organisation leaders who also joined us. The Parliamentary Event provided an opportunity for the rare disease sector to continue fostering strong relationships with all political parties and to welcome newly elected members of the 47th Federal Parliament, while introducing them to key rare disease issues.

In addition to celebrating RVA’s 10th anniversary, the event demonstrated the need for the entire rare disease sector to collaborate to ensure the ongoing successful implementation of the National Strategic Action Plan for Rare Diseases.

RVA Welcomes Equity of Access for Australians Living with Phenylketonuria (PKU)

RVA welcomes the announcement that the Pharmaceutical Benefits Scheme (PBS) listed treatment for Phenylketonuria (PKU) will now be accessible to all Australians living with PKU who are responsive to treatment. RVA provided a consumer comment regarding this treatment that, in line with the National Strategic Action Plan for Rare Diseases (the Action Plan), highlights the importance of equitable access to treatments for adults who have lifelong conditions.

Congratulations to RVA Partners, the Metabolic Dietary Disorders Association (MDDA) and PKU Association of NSW, and their communities for advocating for the best outcomes for Australians living with PKU.

RVA also acknowledges the disappointment that the other treatment for PKU considered for listing on the PBS by the Pharmaceutical Benefits Advisory Committee (PBAC) at the July 2022 meeting was rejected. RVA provided a consumer comment for this treatment that highlighted the importance of new and innovative therapies becoming available to Australians living with a rare condition as soon as possible, which aligns with the Action Plan.

RVA provides consumer comments to the PBAC regarding systemic issues for Australia’s rare disease community.

National Medicines Policy Review Resumes

Rare Voices Australia (RVA) welcomes the resumption of the National Medicines Policy (NMP) Review. Finalisation of the NMP Review was extended until after the Federal Election in May 2022. The Hon Mark Butler MP, Minister for Health and Aged Care, has reappointed Professor Michael Kidd AM as the sole reviewer to complete the Review and provide a final report to Government in late 2022.

Summary Stakeholder Consultation Report

The NMP Review’s Expert Advisory Committee (the Committee) has released a report that provides a summary of the consultation findings to date, including the Committee’s commentary on how stakeholder feedback informed the development of the draft 2022 NMP. RVA is currently reviewing the report and will consider any potential implications for Australians living with a rare disease. We welcome the Committee’s recommendation that the NMP aligns with other policies, strategies and agreements, including the National Strategic Action Plan for Rare Diseases (the Action Plan). RVA also welcomes the Committee’s acknowledgement of the importance of person-centredness (‘Person-centred’ is a foundation principle of the Action Plan).

Stakeholders invited to provide feedback on the revised National Medicines Policy draft

Stakeholders are invited to provide feedback via a range of channels, including a consultation survey, which is open from 17 August 2022 until 27 September 2022 at 11:59pm. RVA will complete the survey as the national peak body for Australians living with a rare disease. A public stakeholder forum will be scheduled in September 2022. Professor Kidd will also engage in several open targeted consultations with key stakeholder groups.

Learn more and download the revised NMP draft and supporting documents here.

How RVA has contributed to the National Medicines Policy Review to date

RVA has contributed to the NMP Review to date in several ways, including:

Webinar for Health Consumers and Consumer Advocates with the Hon Mark Butler MP: Consumers Health Forum of Australia 

The Consumers Health Forum of Australia (CHF) hosted a webinar on Friday 5 August with the Hon Mark Butler MP, Minister for Health and Aged Care. Rare Voices Australia’s (RVA) Chief Executive Officer, Nicole Millis, was pleased to be one of eight health consumer advocates who had the opportunity to ask the Minister a question during the webinar.

Nicole’s question drew on Action 2.1.4 of the National Strategic Action Plan for Rare Diseases:

Develop the capacity of rare disease organisations to represent and advocate for people living with a rare disease and their families.

You can watch the recording of the webinar here.

RVA has noted the significant issues with the subtitles/closed captions on the recording uploaded by CHF. To ensure that members of the rare disease community who are reliant on captions can access Minister Butler’s response to RVA’s question, we have created a transcript of the question and answer.

The below transcript begins at 30 minutes and 50 seconds.

Nicole Millis: Hi Minister. Thank you for today. I’m also on the land of the Wurundjeri people of the Kulin nation today. My question is around consumer-led health and disease organisations. They’re an important part of the health sector, particularly in the rare disease sector. Yet those organisations are often under-resourced, largely volunteer based, often reliant on volunteers who themselves are living with a rare disease, or their long-term organisational sustainability is uncertain. How will the government ensure that this person-centred part of the sector builds capacity and is strong and sustainable?

Minister Butler: Thanks Nicole. Great to see you again, [I] look forward to working with you in a new capacity. I’m in a new capacity, you’re still in the same, but really look forward to working with you. As I said, one of the things I’m doing as a new Minister is trying to get a sense of what support arrangements were in place from the former Government.

So, as you know, many others on the webinar might know, there’s a range of different arrangements that could entice this sometimes core funding, particularly with some of the peak organisations and then grant funding that can be provided for particular projects.

I know that that places a lot of pressure on organisations that are already not well-resourced to have to sort of continue to apply for grant after grant after grant. That can take you away from doing your core work if you’re constantly involved in putting in these applications.

I don’t yet have a good, good and complete sense of where the department is up to with its arrangements. You know, frankly I think some of those funding support arrangements were cut after we lost government last time. So, you know I know a number of organisations I’ve been dealing with had their funding removed. We’ve already been able to reinstate that, particularly in areas that we’re very concerned about, health areas we’re very concerned about right now. But I just encourage organisations to you know, we’re at the point as a new government, where we need feedback, you know about where the gaps are. And I can talk to my department, I can read briefs. That’s no substitute though for getting direct feedback from people on the ground who are doing this really important work. So that’s about all I can say to you about that Nicole nine weeks in. Still pretty early days but I’m finding gaps and trying to fill them where I think it’s really important.

Nicole Millis: That’s fine and we look forward to further discussion. Thanks.

RVA Welcomes Announcement That Pharmaceutical Benefits Scheme Listed Treatment for Spinal Muscular Atrophy (SMA) Will Be Extended to Adults

Rare Voices Australia (RVA) welcomes the Hon Mark Butler MP’s announcement that, from 1 August 2022, the Pharmaceutical Benefits Scheme (PBS) listed treatment for spinal muscular atrophy (SMA) will be extended to adults whose symptoms appeared before 19 years of age. Read more.

Until now, there have been no treatment options available on the PBS for adults living with SMA. Advocating for access to this treatment for adults living with SMA has required much persistence and a solutions-focused approach. RVA had previously provided consumer comments regarding this treatment that highlighted the inequity of restricting access to subsets of a rare disease community, and the importance of utilising real-world evidence in Health Technology Assessment (HTA) in the absence of traditional clinical trial data. 

Congratulations to RVA Partner Spinal Muscular Atrophy Australia and their community for their dedication to advocating for the best outcomes for the SMA community! 

Update: Australian Commission on Safety and Quality in Health Care’s National One Stop Shop and Clinical Trials Front Door

For many people living with a rare disease, participation in clinical trials is the only way to access  treatment. The National Strategic Action Plan for Rare Diseases (the Action Plan) outlines the importance of streamlining processes in Australia to reduce the barriers to clinical trials for rare disease; the National One Stop Shop and National Clinical Trials Front Door (the One Stop Shop) is one mechanism towards this.

The Australian Commission on Safety and Quality in Health Care (the Commission) was engaged by the Australian Government Department of Health, in partnership with all jurisdictions via the Clinical Trials Reference Group, to consult with all stakeholders and to develop the One Stop Shop framework and web platform.

The goal of the One Stop Shop is to simplify the processes for patients, researchers, industry and sponsors to find, conduct, participate and invest in high-quality, ethical research in Australia. The One Stop Shop aims to:

  • Enhance access to state-of-the-art treatments
  • Improve health outcomes
  • Contribute to innovation economy and a self-improving health system
  • Strengthen Australia’s global positioning in health-related human research

The One Stop Shop’s proof-of-concept web platform brings together the business processes, authorisation and notification systems of the Therapeutic Goods Administration, the Gene Technology Regulator and locally developed clinical trial management systems. It also aims to promote the need for single national ethics and site-specific approval (SSA) processes in one centralised platform made transparent for, and tailored to, all stakeholders.

Since late 2021, Rare Voices Australia (RVA) has attended several public and private consultations to contribute rare disease perspectives at different phases of the One Stop Shop project. RVA also prepared two written submissions. Leveraging key priorities and actions in the Action Plan, the first submission provided rare disease perspectives to the development of the National Clinical Trials Governance Framework (Governance Framework). Also leveraging the Action Plan, RVA’s second submission addressed the proposed national SSA minimum core elements and proof-of-concept web platform, which was developed in consultation with subject matter experts across all jurisdictions in Australia. To review RVA’s submissions please follow these links:

On 24 May 2022 the Secretary of the Australian Government Department of Health launched the Governance Framework. You can watch the launch at this link. Assessment of the Governance Framework is scheduled to commence in January 2023 under the Australian Health Service Safety and Quality Accreditation (AHSSQA) Scheme. The Commission is still working on supporting resources in preparation for the assessment.

The Commission will submit a full report and the proof-of-concept web platform to the Australian Government for their consideration for future implementation. To progress key priorities in the Action Plan and improve the lives of people living with a rare disease, RVA recommends timely review of the Commission’s report and proof-of-concept for the One Stop Shop, together with a national plan for its sustainable implementation. 

To learn more about the One Stop Shop or keep track of progress, please visit the Commission’s website.

RVA is Hiring: Education Project Officer

Rare Voices Australia (RVA) is excited to be expanding our team! We are looking to recruit an Education Project Officer. The suitable candidate will have a range of responsibilities, including to help develop and facilitate a range of education sessions and resources to contribute to RVA’s national Education Program.

If you have proven experience in a similar role and are committed to improving the lives of Australians living with a rare disease, we’d love to hear from you. Applications close 2 August 2022.

Download the full position description.

National Disability Insurance Agency (NDIA) Community Update

The National Disability Insurance Agency (NDIA) Co-design and Engagement Team would like to invite you to participate in their monthly virtual community update which is held in all states on the first Wednesday of each month. If you would like to attend, please email:

The aim of this virtual meeting is to provide you with scheme updates and information about the wider disability sector, and to provide you with an opportunity to discuss your challenges, concerns and good news stories with the wider network. 

If there are any subjects or information you would like to propose for inclusion or discussion, please send requests to by COB Friday before the meeting for potential inclusion on the Agenda.

The NDIA Events page lists upcoming topic specific events that may also be of interest to you. 

Please advise of any accessibility, interpreter, live captioning, or other requirements. Please note, a minimum of five business days’ notice is required to book interpreters and live captioning services.

28 June is International Neonatal Screening Day 

Today (28 June) is International Neonatal Screening Day, a day that celebrates the birthday of Dr Robert Guthrie, the American microbiologist who introduced the first dried bloodspot testing for rare disease. Australian babies have been screened using Dr Guthrie’s method since the 1960s. 

Newborn Bloodspot Screening (NBS) is an important program that supports the earliest possible diagnosis of some rare diseases. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care. 

In a Media Statement released by the Hon Mark Butler MP, Minister for Health and Aged Care, to coincide with International Neonatal Screening Day, the Government stated: 

“In a major milestone, Severe Combined Immunodeficiency (SCID) has been recommended for inclusion in state and territory newborn bloodspot screening programs. SCID is a serious, life-limiting condition and early diagnosis by newborn screening allows for treatment to be undertaken before infections cause complications.” 

RVA welcomes this positive recommendation and the announcement from the New South Wales Government (NSW) that all NSW and Australian Capital Territory (ACT) babies will be offered testing for Spinal Muscular Atrophy (SMA) and SCID, thanks to a $1.3 million investment boost per year. These tests will be offered to parents of all new babies in NSW and the ACT from 1 July 2022 within 48-72 hours of their baby’s birth. Read the full Media Statement.

On 17 June 2022, RVA welcomed the Queensland Government’s announcement that the state will expand its newborn screening program to include SMA and SCID. See RVA’s full article

RVA thanks both state governments for their ongoing engagement with RVA regarding NBS. We will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program. 

Congratulations to RVA Partners, Spinal Muscular Atrophy Australia and Immune Deficiencies Foundation Australia, on their successful advocacy on behalf of their communities. 

These state government announcements follow the Australian Labor Party’s (ALP) $38.4 million commitment to NBS ahead of the Federal Election. RVA is encouraged by the discussions we’ve had with the ALP since they formed government regarding this investment, and the challenges and gaps with NBS. The Government’s International Neonatal Screening Day message also stated: 

“Over the coming months, newborn bloodspot screening programs will be reviewed and reformed. The Department of Health and Aged Care has already started this work in collaboration with key partners. The Department will be consulting widely and working closely with state and territory governments to ensure program expansion is implemented effectively. More details on this consultation process will be available soon.”  

Read the full Media Statement