Hi RVA Supporter,

Planning is well underway for the Rare Voices Australia (RVA) 2024 National Rare Disease Summit (the Summit) on 15 and 16 November 2024 in Brisbane. Radio host, actor, comedian and television producer, Julian Morrow, will once again join us as our Master of Ceremonies and the Summit theme is, Progress Beyond Policy. The Summit brings together key rare disease stakeholders and attendance is by invitation to ensure stakeholder balance. All RVA Partner groups/organisations will be invited, so please mark the dates in your calendar. Save the Date emails will be distributed to those invited shortly. If you are expecting to receive a Save the Date message and haven’t received an email by the end of the week, please check your Junk folder.

Disability Advocacy Update 

As noted in RVA’s March 2024 Disability Advocacy Update, a comprehensive disability reform agenda is underway across Commonwealth and State Governments. Earlier this month, RVA convened a virtual roundtable with 15 RVA Partner groups/organisations (rare disease groups/organisations) to explore two important areas of proposed changes to the National Disability Insurance Scheme (NDIS). The session was facilitated by RVA’s Disability Advocacy Manager, Fiona Lawton. Input from this meeting has been crucial in developing RVA’s Submission to the NDIS Provider and Worker Registration Taskforce, which is due on 7 May. A copy of the roundtable presentation is available to download in April’s Disability Advocacy Update, which includes more information about the virtual roundtable and the newly created NDIS Neurodegenerative Disorders and Palliative Care Working Group (N&PWG). Following several years of strong, persistent advocacy to the National Disability Insurance Agency, RVA is pleased to join the N&PWG.

RVA’s Submission to the NDIS Provider and Worker Registration Taskforce is one of two Submissions RVA has been working on this month. We lodged a Submission to the public consultation on the refresh for the National Strategic Framework for Chronic Conditions earlier this week.

The Rare Awareness Rare Education (RARE) Portal Turns One

The Rare Awareness Rare Education (RARE) Portal is now over a year old! Thank you to everyone who has contributed to RVA’s multi-stakeholder consultation process to date.

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). Initial development of the RARE Portal was funded by the Australian Government and as I write, over 15,000 people have visited the RARE Portal to date.

RVA received $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. This funding has facilitated the extensive multi-stakeholder consultation process RVA has engaged in to progress RARE Portal development. Additionally, these funds have enabled RVA to consult with peak bodies and other experts to produce several education materials available via RVA's Online Education Portal—including resource collections, reports and webinars—for priority populations identified in the Action Plan, including the Aboriginal and Torres Strait Islander community; the multicultural/culturally and linguistically diverse (CALD) community; and the regional, remote and rural community.

Expressions of Interest Sought: Understanding Impact Across the Rare Disease Sector

As the national peak body for Australians living with a rare disease, RVA remains committed to monitoring the collaborative implementation of the Action Plan. As part of this ongoing work, RVA is seeking expressions of interest (EOI) from a range of stakeholders willing to participate in an online interview to share stories of change on behalf of their community, group/organisation, practice or institution. Learn more and lodge your EOI on RVA's website.

RVA Scientific and Medical Advisory Committee Updates

I’d like to welcome Dr Jane Tiller and Ann Single to RVA’s Scientific and Medical Advisory Committee! We’ll share more in our May eNewsletter. We look forward to working with you both.

Federal Budget 2024–25 

Federal Treasurer, the Hon Dr Jim Chalmers MP, will deliver the 2024–25 Budget at approximately 7:30 pm (AEST) on Tuesday 14 May 2024. As noted in January eNews, RVA was pleased to lodge a 2024-25 Pre-Budget Submission, which consisted of three key asks that align with the priorities, actions and implementation steps outlined in the Action Plan and will accelerate its collaborative implementation. RVA will share our Submission in full once it has been published. RVA's Education and Advocacy Manager, Louise Healy, and I look forward to our time in Canberra throughout Budget week. Post-Budget, RVA will highlight key areas we believe are most relevant to the estimated two million Australians living with a rare disease and the sector.

Acknowledgements

I’d like to take this opportunity to acknowledge the work and commitment of Jan Mumford who recently stepped down as Chief Executive Officer (CEO) of RVA Partner, Genetic Alliance Australia. I have worked closely with Jan on several different advisory groups and activities, and Jan was a valued member of the Steering Committee for the collaborative development of the Action Plan. Additionally, I’d like to welcome Jason Doherty who has been appointed CEO of Syndromes Without A Name (SWAN) Australia. RVA welcomes Jason to the rare disease sector.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Bridie's story highlights the importance of diagnosis, access to treatment and support, and how living with a rare disease can impact all facets of a person's life.

Planning is well underway for the 2024 National Rare Disease Summit (the Summit), which will be held in Brisbane. The Summit brings together key rare disease stakeholders and attendance is by invitation to ensure stakeholder balance. RVA Partner groups/organisations will be invited, so please mark the 15 and 16 November 2024 in your calendar. Save the Date emails will be distributed to those invited shortly. If you are expecting to receive a Save the Date message and haven’t received an email by the end of the week, please check your Junk folder.

As the national peak body for Australians living with a rare disease, RVA remains committed to monitoring the collaborative implementation 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 diseases in Australia. As part of this ongoing work, RVA is seeking expressions of interest (EOI) from a range of rare disease stakeholders willing to take part in an online interview to share stories of change on behalf of their community, group/organisation, practice or institution. Learn more and lodge your EOI on RVA's website.

On Tuesday 16 April, RVA convened a virtual roundtable to explore two important areas of proposed changes to the National Disability Insurance Scheme (NDIS): Draft Legislation – NDIS Amendment Bill 2024 and the NDIS Provider and Worker Registration Taskforce. RVA was delighted to have 15 RVA Partner groups/organisations (rare disease groups/organisations) join in on a productive and engaging session, focused on examining the systemic issues experienced by NDIS participants living with a rare disease, and proposing solutions to improve both outcomes and experiences. More information about the virtual roundtable and the newly created NDIS Neurodegenerative Disorders and Palliative Care Working Group (N&PWG) is available via the April 2024 Disability Advocacy Update on RVA’s website.

On 19 April 2024, Health Ministers from all Australian governments met to discuss a range of important issues for Australia’s healthcare system. The purpose of these Health Ministers’ Meetings is to provide leadership and facilitate joint decision making on health issues of national importance.

As the national peak body for Australians living with a rare disease, RVA welcomes the April post-meeting Communique, which includes the following update regarding newborn bloodspot screening:

“Ministers agreed to national implementation of six conditions that are currently not consistently screened across jurisdictions. This includes two target conditions: tyrosinemia type I and guanidinoacetate methyltransferase deficiency (GAMT-D); and four non-target conditions: 3-methylglutaconic aciduria (3-MGA) and 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC), x-linked agammaglobulinemia (XLA) and malonic acidemia. States and territories will now take steps to ready their programs for implementation.”

RVA is encouraged by the heightened awareness of the profile and importance of NBS and the ongoing commitments made between the Commonwealth, states and territories to ensure consistency and equity across Australia. Read the Communique in full on the Department of Health and Aged Care’s website.

Capital Region Muscular Dystrophy (CRMD) has been working with the Australian Capital Territory Government to establish a multi-disciplinary neuromuscular clinic in the Canberra Health Service (CHS). This full-service clinic commences in May 2024 and will provide allied health advice, genetics and other necessary CHS services as well as access to available clinical trials to those aged 16 and over. To gain access to the clinic, people require a referral from their general practitioner to the Neurology Department at Canberra Hospital. For more information, the clinic’s nurse manager can be contacted at CHS.NMNurse@act.gov.au or by phone on 0482 117 930.

The establishment of the neuromuscular clinic is a milestone for CRMD and the neuromuscular community. Congratulations to CRMD on this significant outcome! The clinic has been needed in Canberra for some time and has the potential to remove the need for travel to Sydney or Melbourne for services, while increasing the level of understanding and awareness of neuromuscular conditions in Canberra. CRMD provides support to those living in the Canberra region (including families and carers) with one of the many forms of muscular dystrophy. Visit CRMD’s website for more information.

Undiagnosed Day was observed globally on 29 April. Australians living with an undiagnosed rare disease are identified as a priority population in the Australian Government’s National Strategic Action Plan for Rare Diseases. The UDN-Aus is a national initiative funded by the Medical Research Future Fund (MRFF), aiming to improve the rate of genomic diagnoses to over 70% for those with undiagnosed rare genetic conditions, enabling precise, personalised care to individuals throughout Australia. The UDN-Aus is a RVA research partner with RVA providing rare disease consumer and policy expertise. Visit the UDN-Aus website for more information.

To mark Undiagnosed Day, the Undiagnosed Diseases Network International (UDNI), the Undiagnosed Diseases Network Foundation and the Wilhelm Foundation hosted a global virtual event. RVA Scientific and Medical Advisory Committee (SMAC) members, Clin/Prof Gareth Baynam and Dr (Elizabeth) Emma Palmer, spoke. Watch the replay via Undiagnosed Day’s website.

National Strategic Action Plan for Rare Diseases

The 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.

The National Health and Medical Research Council (NHMRC) is currently reviewing the Statement on Consumer and Community Involvement in Health and Medical Research 2016 (the Statement). The aim of the Statement is to guide research institutions, researchers, consumers and community members regarding the active involvement of consumers and community members in all aspects of health and medical research. It outlines the benefits and levels of consumer and community involvement in research. Consumers and community representatives, researchers and research administrators, peak bodies, advocates, funders and government have been invited to contribute at all stages of the review.

On 24 April 2024, RVA attended one of a series of workshops, led by the Australian Health Research Alliance (AHRA), to address specific discussion questions around content for the revised Statement. RVA looks forward to the outcome of this revision and anticipates a more practical guide that clearly articulates the roles and responsibilities of all stakeholders.

All stakeholders—both individuals and organisations—are invited to contribute written feedback to address these discussion questions via an online survey. Visit the NHMRC’s website to find out more about how you can contribute.

LaunchR is a new network of Western Australian (WA), national, and international rare disease experts dedicated to developing, providing access to, and manufacturing of, precision medicines for rare disease. The network leverages WA's expertise in rare disease precision medicine, particularly, but not only, in antisense oligonucleotides to pioneer personalised therapies for rare diseases that lack an approved therapy. With linkages to local, national and international teams, LaunchR represents a crucial step forward in addressing the unmet needs of people living with rare diseases and their families. To further catalyse and expand the impact of LaunchR, Rare Diseases Moonshot – Australia has also recently been announced.

The Rare Care Centre at Perth Children’s Hospital is partnering with the Rare Diseases Moonshot in Europe to create the Rare Diseases Moonshot - Australia. The Rare Disease Moonshot  is a scale up of public-private partnerships to accelerate rare and paediatric diseases therapies. There are many contributors on the journey from idea to a therapy and each play a critical role to make the miracle happen, from fundamental research, through to medicines discovery and development, to public and private research infrastructures.  

You are invited to take part in a research study titled, Newborn screening in the genomic age: the perspectives of stakeholders. The study is being conducted by the Universities of New South Wales and Sydney and is part of a series of projects looking at how we use genomics in newborn screening in an ethical and equitable way. This project is funded by the Medical Research Future Fund 2021 2015965: gEnomics4newborns: integrating Ethics and Equity with Effectiveness and Economics for genomic newborn screening. The research study is engaging parents and carers of children who have received a genetic diagnosis. They are also inviting parents and carers of children who have participated in newborn screening and received a genetic diagnosis through this pathway (true positives), who have received a screen result that was not confirmed on diagnostic testing (false positives) or whose child was diagnosed with a genetic condition that could have been identified through newborn screening (false negative). They would like to interview participants so that they can share their experiences and perspectives of their child undergoing genetic testing*. For more information, please visit the gEnomics4newborns website. 

*Please note: genetic or genomic testing are not being conducted as part of this study.