Hi RVA Supporter,

Rare Voices Australia (RVA) has been pleased to co-host two webinars in October with Patient Voice Initiative and Lymphoma Australia regarding the next steps for the Health Technology Assessment (HTA) Policy and Methods Review implementation. Thank you to the Hon Mark Butler MP, Minister for Health and Aged Care, for speaking at the first webinar and for his willingness to work with a collaborative consumer group response to the proposal for an independent multistakeholder Implementation Committee. Following the webinar, this letter (download a copy) was sent to Minister Butler. Thank you to the 50 health consumer organisations that co-signed the letter. Today’s follow up webinar focused on forming a collective response regarding implementation priorities. While the legitimate variation across our health consumer community is to be expected, this approach has provided a wonderful example of the broader consumer sector working together effectively and in a collaborative manner regarding common issues.

2024 National Rare Disease Summit

RVA’s 2024 National Rare Disease Summit is now just over a couple of weeks away. Our team is looking forward to bringing together key rare disease stakeholders in Brisbane on 15 and 16 November to explore the theme, Progress Beyond Policy. Attendance is by invitation to ensure stakeholder balance. If you have received an invitation, please note that registrations close today (31 October 2024). 

Implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) requires ongoing collaboration and support from the entire rare disease sector to achieve its vision: The best possible health and wellbeing outcomes for Australians living with a rare disease. The Summit is a fantastic opportunity to progress Action Plan implementation and is a highlight on the Australian rare disease calendar. I look forward to seeing those attending and welcoming Senator Wendy Askew, Co-Chair of the Parliamentary Friends of Rare Diseases and Senator for Tasmania, who will be joining us in person.

2025 Rare Disease Day Parliamentary Event

The countdown to Rare Disease Day has already commenced! Rare Disease Day is marked on the last day of February annually, and RVA is the national alliance representing Australia in annual Rare Disease Day preparations. We are also on the Rare Disease Day Steering Committee, which takes a longer-term strategic view of the campaign. The 2025 Rare Disease Day campaign will be launched on 20 November 2024 (100 days out from Rare Disease Day) with the official Rare Disease Day video. We are very proud to share that RVA Ambassador, Tammie Rees, and her daughter Ava are featured in the video and one of the official posters. Learn more about Rare Disease Day and download the campaign materials via the website.

RVA is excited to confirm that our annual Rare Disease Day Federal Parliamentary Event will take place on Tuesday, 11 February 2025. Invitations will be distributed to those invited in early 2025. All RVA Partner organisations/groups will receive an invitation and a Save the Date was distributed last week to RVA Partners. The event will once again be hosted by the Parliamentary Friends of Australians Living with Rare Diseases.

Parliamentary Events provide stakeholders with the opportunity to meet and speak with politicians to further highlight rare diseases and continue building on the momentum already generated to accelerate progress beyond policy. Enabling politicians to gain a better understanding and awareness about rare diseases is even more important as we head into a Federal Election year in 2025.

2025 Federal Election: Rare Voices Australia Election Commitment Requests

Regarding the 2025 Federal Election, in addition to and aligned with our recent Pre-Budget Submission, RVA has written to Minister Butler and Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care, requesting four election commitments on behalf of the rare disease sector:

1. Honour the commitment to establish the independent multistakeholder Implementation Committee to oversee implementation of the HTA Policy and Methods Review final reports (read more via RVA’s website)

2. Complete the National Strategic Framework for Chronic Conditions refresh, ensuring that the revised version responds to the needs of the rare disease community

3. Investment to progress Rare Disease Centres of Expertise, which are critical to addressing gaps and providing better rare disease care

4. Ensure the Australian Government adopts an ongoing codesign approach to work with RVA to ensure disability policy and supports respond to the needs of the rare disease community

These four commitments align with the priorities, actions and implementation steps detailed in the Action Plan and will accelerate its collaborative implementation.

Help Shape Rare Disease Research in Australia

RVA and The Kids Research Institute Australia (formerly Telethon Kids Institute) are conducting a Rare Disease Research Priority Setting Partnership Project. The project aims to identify and prioritise the 10 most important unanswered research questions for the future of rare disease research in Australia. The project is taking place over the next 12 months and involves three stages (read more in the newsletter article). The first stage involves an online survey, which is live now and asks those eligible about their most important research questions or concerns about rare disease. Complete the survey and visit The Kids Research Institute Australia's website to learn more.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

2025 Rare Disease Day Promotion 
Materials Available to Download

A suite of official Rare Disease Day promotion materials are now available to download via the official Rare Disease Day website. The materials include this official poster, which features RVA Ambassador, Tammie Rees, with her daughter Ava who lives with Maple Syrup Urine Disease. Tammie and Ava are also featured in the 2025 Rare Disease Day video, which will mark the official launch of the campaign 100 days from Rare Disease Day (20 November 2024). If you are organising an event for Rare Disease Day, we encourage you to register your event via this link on the Rare Disease Day website.

Personal Story of the Month

Amber shares her story of being born with Netherton Syndrome, a form of ichthyosis, and how the condition has impacted her life. She shares the uncertainty involved with living with a rare disease on a daily basis and the difference that a supportive network of family, friends, coworkers and teachers have made.

RVA’s 2024 National Rare Disease Summit (the Summit) will bring together key rare disease stakeholders in Brisbane on 15 and 16 November to explore the theme, Progress Beyond Policy. Attendance is by invitation to ensure stakeholder balance. If you have received an invitation, please note that registrations close today (31 October 2024). Implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) requires ongoing collaboration and support from the entire rare disease sector to achieve its vision: The best possible health and wellbeing outcomes for Australians living with a rare disease. The Summit is a fantastic opportunity to progress Action Plan implementation and is a highlight on the Australian rare disease calendar. We look forward to seeing those attending at the Summit next month!

RVA continues our systemic advocacy for the estimated two million Australians living with a rare disease, the majority of whom meet the Australian Government’s definition for disability. RVA estimates that over 100,000 National Disability Insurance Scheme (NDIS) participants live with a rare disease comorbidity. Our October Rare Disease Disability Advocacy Update includes information about two resources released recently, which are designed to help the sector and people living with disability stay abreast of the government’s disability reform activities and consultation opportunities as well as information about the NDIS Rare Disease Disability Dashboard; the NDIS Workforce Capability and Culture Co-Design Working Group; the National Carer Strategy; and the Foundational Supports Strategy. Read the October update in full on RVA's website.

The Department of Health and Aged Care distributed the following message on 24 October 2024 regarding the March 2025 Pharmaceutical Benefits Advisory Committee agenda. Rare disease organisations impacted may wish to contact the Health Technology Assessment Consumer Evidence and Engagement Unit for more information.

"The Department of Health and Aged Care has received notification that pharmaceutical companies plan to bring forward more than 50 major submissions for consideration at the March 2025 meeting of the Pharmaceutical Benefits Advisory Committee (PBAC).

"This is an unprecedented number and exceeds both the current capacity of the contracted Health Technology Assessment (HTA) workforce for evaluation, and the number the PBAC can consider in one meeting. The Department does not control the number of submissions brought forward by sponsoring pharmaceutical companies and on very rare occasions – a handful in the past 10 years - the number has exceeded evaluation capacity.

"The Department has contacted existing and additional providers of HTA evaluation services but there is not enough capacity available to be able to consider all the submissions at the March meeting. It will therefore be necessary to consider some of the submissions at a later meeting. 

"PBAC’s decision to hold over some of the submissions to a later meeting has been taken very carefully given the potential implications for patients, clinicians and sponsors. In selecting submissions for the March 2025 agenda, the PBAC used its clinical judgment and experience, providing a consistent and standard approach across all submissions. This patient-centred approach considered: clinical need, high added therapeutic value and the nature of the condition.

"Submissions held over from March 2025 will be considered at the PBAC’s July 2025 meeting subject to submission volume and capacity for that meeting.

The Department has written to all of the affected companies as well as Medicines Australia. We will be keeping in close contact as we progress these issues."

RVA and The Kids Research Institute Australia (formerly Telethon Kids Institute) are conducting a Rare Disease Research Priority Setting Partnership Project. This project aims to identify and prioritise the 10 most important unanswered research questions for the future of rare disease research in Australia. The project is taking place over the next 12 months and involves 3 stages:

Stage 1: Online survey that asks you about your most important research questions or concerns about rare disease – the survey is live now!

Stage 2: Follow-up online survey based on responses to the survey in Stage 1

Stage 3: An online consensus workshop where participants will discuss and prioritise the Top 10 most important unanswered research questions for the future of rare disease research in Australia

Complete the survey and visit The Kids Research Institute Australia's website to learn more.

The Rare Disease Project ECHO® Clinical Community of Learning Practice is a continuing professional development activity delivered via interactive webinars. The webinars start with a presentation on a specific topic from an expert, followed by reflective discussion, which all participants are encouraged to join.

Upcoming Rare Disease Project ECHO® sessions in 2024:

7 November: Innovative Clinical Trials Access Models

5 December: Clinical Yarning

Previous sessions held were Mental Health and Wellbeing and Achieving Early Diagnosis.

Register to attend via this web page.

Joining the Rare Disease Project ECHO® community can have many benefits, including establishing referral pathways across Australia to reach rare disease subject matter experts and supporting with the diagnosis and management of rare diseases. 

National Strategic Action Plan for Rare Diseases

The Australian Government's National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in February 2020 by the Minister for Health with bipartisan support. You can access the Action Plan via the Department of Health and Aged Care's website and a suite of summary materials via RVA's website.

Rare Diseases International (RDI) is launching a survey to map rare disease expertise, care-providing centers and networks across various countries. The survey aims to identify the available expertise for rare diseases in each country and understand its organisation, whether through hospitals, centres, or specialised departments, along with their characteristics. The anonymous survey will take less than 5 minutes to complete, and is available in English and Spanish. You can complete the survey via this webpage.