Hi RVA Supporter,

With Rare Disease Day and Rare Voices Australia’s (RVA) annual Federal Parliamentary Event now behind us, our team’s attention has turned towards the National Rare Disease Summit (the Summit) on 15 and 16 November 2024. This year’s Summit will be held in Brisbane and RVA Partner groups/organisations will be invited, so please mark the dates in your calendar. The Summit brings together key rare disease stakeholders and attendance is by invitation to ensure stakeholder balance. Save the Date emails will be distributed to those invited in April.

Speaking of Rare Disease Day, we thank EURORDIS for the Communications Support Programme funding RVA received to develop the Rare Voices United social media campaign. The Communications Support Programme was made possible by a dedicated grant from Fondation IPSEN under the aegis of Fondation de France. Rare Voices United focuses on illuminating people living with a rare disease on Rare Disease Day and beyond through our RVA Ambassadors. Our RVA Ambassador campaign was established in 2022 to coincide with RVA’s tenth anniversary and each ambassador brings their own unique lived experience of rare disease. You’ll continue noticing the Rare Voices United graphics throughout the year as RVA helps to maintain the momentum generated by Rare Disease Day throughout 2024.

RARE Helpline Surpasses 200 Queries

I’m pleased to share that the RARE Helpline, which provides support to those living with a rare and/or complex disease, has now assisted over 200 people. The service provides timely access to information and answers key questions people living with a rare and/or complex disease face, while also highlighting gaps in terms of available services. Staffed by appropriately trained RVA personnel, the RARE Helpline is available from Monday to Friday (with the exception of public holidays), 9am to 5pm AEDT. The RARE Helpline:

• Supports people to connect with existing information that is reliable

• Provides resources that respond to people’s specific needs

• Assists in connecting people with existing health services where possible

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

RVA Disability Advocacy Update: March 2023

A comprehensive disability reform agenda is underway across Commonwealth and State Governments, including transformation of disability policy, which is being led by the Disability Reform Ministerial Council. This program of disability reform is guided by the commitments of the Australian Disability Strategy 2021-2031 (December 2021) and its supporting action plans and has been instigated by the subsequent release of 222 recommendations in the Royal Commission into the Violence, Abuse, Neglect and Exploitation of People with Disability (Disability Royal Commission; 29 September 2023) and the National Disability Insurance Scheme (NDIS) Independent Review final report (NDIS Review, December 2023). You can read our full March Disability Advocacy update on RVA’s website. As part of RVA’s ongoing disability advocacy, we will be convening a virtual roundtable on Tuesday 16 April with interested RVA Partner groups/organisations. I encourage RVA Partner groups/organisations to see the 'National Disability Insurance Scheme Provider and Worker Registration Taskforce' section of the article on RVA’s website for more information and how to express your interest by Tuesday 9 April in attending the session.

Medicines Repurposing Program: Call for Nominations

The Australian Government's National Strategic Action Plan for Rare Diseases identifies the importance in rare disease of repurposing medicines already approved for use in treatment of other conditions. The Department of Health and Aged Care has commenced a new Medicines Repurposing Program to expand treatment options and improve health outcomes for Australians. The program is now open for nominations via the candidate nomination form. The first batch of nominations will be accepted until Wednesday, 17 April 2024.

Rare Disease Awareness, Education, Support and Training (RArEST) Project

As the Australian Government-funded Rare Disease Awareness, Education, Support and Training (RArEST) Project nears its completion on 30 June 2024, I encourage you to become familiar with its many deliverables, which are available via the RArEST Project page on RVA’s website. Mental health and wellbeing resources for the rare disease community and sector include the Living with a rare disease: Digital mental health resources fact sheet and Applying Mental Health First Aid in a Rare Disease Context. There are also several resources for health professionals, including the National Recommendations for Rare Disease Health Care and e-Learning modules for health professionals. You’ll also find one-page fact sheets that cover the rare disease sector and collaborating with other stakeholders on the RArEST Project page.

Enhanced Consumer Co-design Survey Reminder

As noted last month, I am privileged to be a member of the Co-design Working Group that is progressing the co-design of an enhanced consumer engagement process for health technology assessment (HTA). This process is an opportunity to increase the patient and consumer voice earlier as part of HTA. The Co-design Working Group developed proposed recommendations and is now seeking feedback on these proposed recommendations. This feedback will help the working group to refine recommendations for a final report to the Hon Mark Butler MP, Minister for Health and Aged Care. The consultation can be accessed online and closes at 11:59PM on 2 April 2024 (AEDT) – that’s next week. I encourage everyone who has previously engaged with HTA to consider participating in this important work; learn more via the Department of Health and Aged Care’s website.

RVA Welcomes Professor Lynn Gillam AM to Our Scientific and Medical Advisory Committee

Lynn is a Clinical Ethicist and Academic Director of the Children’s Bioethics Centre at the Royal Children’s Hospital in Melbourne. She provides clinical ethics case consultation, policy advice, leads research in paediatric clinical ethics and is a wonderful addition to our Scientific and Medical Advisory Committee.

Finally, I wish those who celebrate a happy Easter. I hope everyone enjoys the short break.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Lucy's story highlights the importance of diagnosis and how crucial it is to be surrounded by a team of medical professionals who are willing to work alongside her for the best outcomes.

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. RVA will distribute Save the Date emails to those invited in April.

A comprehensive disability reform agenda is underway across Commonwealth and State Governments, including transformation of disability policy, which is being led by the Disability Reform Ministerial Council. This program of disability reform is guided by the commitments of the Australian Disability Strategy 2021-2031 (December 2021) and its supporting action plans and has been instigated by the subsequent release of 222 recommendations in the Royal Commission into the Violence, Abuse, Neglect and Exploitation of People with Disability (Disability Royal Commission; 29 September 2023) and the National Disability Insurance Scheme (NDIS) Independent Review final report (NDIS Review, December 2023). You can read the full March Disability Advocacy update on RVA’s website. As part of RVA’s ongoing disability advocacy, we will be convening a virtual roundtable on Tuesday 16 April with interested RVA Partner groups/organisations. 

Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives, co-authored by RVA's Chief Executive Officer, Nicole Millis, and Scientific and Medical Advisory Committee member, Dr Kaustuv Bhattacharya, has been published in PLOS ONE. An excerpt of the journal article states, "As the first study within a multi-part research program, findings will be used to generate new knowledge on the risks and benefits and importance of ethical, legal, social and equity implications of genomic newborn screening from the perspective of key stakeholders. As such it will be the foundation on which child and family centered criteria can be developed to inform health technology assessments and drive efficient and effective policy decision-making on the implementation of genomics in newborn screening." Read the full journal article on PLOS ONE's website.

RVA is pleased to welcome Professor Lynn Gillam AM to our Scientific and Medical Advisory Committee. Lynn is a Clinical Ethicist, and Academic Director of the Children’s Bioethics Centre at the Royal Children’s Hospital Melbourne. Lynn provides clinical ethics case consultation, policy advice and leads research in paediatric clinical ethics.  She is also Professor in Health Ethics at the University of Melbourne, in the Department of Paediatrics, where she teaches ethics and qualitative research design in the MD and other health professional courses. We look forward to working with Lynn!

Dr (Elizabeth) Emma Palmer, RVA Scientific and Medical Advisory Committee member; senior clinical lecturer at the University of New South Wales, Sydney; and leading co-author of Australia's first-ever National Recommendations for Rare Disease Health Care (the Recommendations) joined Jan Mumford, Executive Director of RVA Partner Genetic Alliance Australia, on the ABC’s ‘Nightlife’ program for a rare disease themed segment. The conversation covers several topics, including diagnosis; advances in technology; support for the estimated two million Australians living with a rare disease; the Australian Government’s National Strategic Action Plan for Rare Diseases; the RARE Helpline; the Rare Awareness Rare Education (RARE) Portal; and more. Listen to the segment via ABC's website.

NSW Health has published an article featuring Dr (Elizabeth) Emma Palmer, RVA Scientific and Medical Advisory Committee member and senior clinical lecturer at the University of New South Wales, Sydney, which highlights rare disease and the diagnostic odyssey. The article explores a range of topics including genomic testing; the Australian Government's National Strategic Action Plan for Rare Diseases; the importance of a person-centred approach; and the need for Rare Disease Centres of Expertise. Read the article on NSW Health's website.

The co-design of an Enhanced Consumer Engagement Process aims to capture the perspectives of consumers and patients in the health technology assessment (HTA) process. This will help the Pharmaceutical Benefits Advisory Committee (PBAC) and other independent HTA advisory bodies to understand issues coming from new technologies, innovations and associated implications for consumers at an early stage. The Co-design Working Group developed proposed recommendations and is now seeking feedback on these proposed recommendations. This feedback will help the working group to refine recommendations for a final report to the Hon Mark Butler MP, Minister for Health and Aged Care. The consultation will be accessed online. It opens on 1 March 2024 and closes at 11:59PM on 2 April 2024 (AEDT). Learn how to participate in the consultation via the Department of Health and Aged Care’s website.

Australia's first-ever National Recommendations for Rare Disease Health Care (the Recommendations) outline how Australian health professionals can provide high quality care to people living with a rare disease, their families, and other carers. Co-designed by an extensive multi-stakeholder consultation process, the Recommendations have been co-developed by health professionals, academics and people living with a rare disease. 

This work is part of the Australian Government-funded Rare Disease Awareness, Education, Support and Training (RArEST) Project. The Recommendations have been endorsed by RVA and 10 national colleges and bodies to date, including Australian Genomics, the Human Genetics Society of Australasia, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, the Australian Rheumatology Association, the Australian College of Rural and Remote Medicine, and the Australian Primary Health Care Nurses Association. They have also been officially recognised as an Accepted Clinical Resource by The Royal Australian College of General Practitioners.

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 Paediatric End-of-Life Care Communication course has been developed as part of the Paediatric Palliative Care National Action Plan Project and the Shaping the Future of Paediatric Palliative Care Project. The modules are written for health care professionals to support communication at end-of-life in paediatrics. The course is intended to help participants to better engage authentically and effectively with young people, families, and colleagues about end-of-life care in paediatrics. The content of the modules is designed and provided by families with experience in end-of-life care for children, and the health care professionals who provide support for them. Go to the Palliative Care Education and Training Collaborative website for more information about the course.

The Australian Government Department of Health and Aged Care has commenced a new Medicines Repurposing Program (MRP) to expand treatment options and improve health outcomes for Australians. The MRP will identify new uses for existing medicines registered on the Australian Register of Therapeutic Goods (ARTG). It aims to facilitate and encourage the ARTG registration and consideration by the Pharmaceutical Benefits Advisory Committee (PBAC) for listings on the Pharmaceutical Benefits Scheme (PBS). More information on the MRP is available on the TGA website.
  
The program will work with clinicians, health organisations, patient groups, researchers, pharmaceutical companies and other interested members of the public to identify opportunities for repurposing. Individuals and organisations can propose new uses for existing medicines, supported by accepted clinical practice and/or publicly available literature, through the nomination form. The program is encouraging nominations with a clear public health benefit substantiated by evidence of established clinical practice. The program is now open for nominations via the candidate nomination form. The first batch of nominations will be accepted until Wednesday, 17 April 2024.

In partnership with the Rare Care Centre in Perth, join Sue Baker and Kaila Stevens (Rare Care Centre), Professor Yvonne Zurynski and Christina Rojas for a simulation workshop that will challenge you to think differently about health systems improvement. Regardless of whether you are a clinician, patient, caregiver, policymaker, manager, or researcher, everyone is welcome. After the workshop, supper will be provided and you will also have the opportunity to network with others in the space. See the flyer for more information.

Event details

Date: Monday, 6 May 2024
Time: 6pm - 9pm
Location: Seminar Room G24, North Building, Harry Perkins Institute of Medical Research, Perth

RSVP: Reserve your free ticket via Eventbrite's website