Category: RVA News

On behalf of Rare Voices Australia (RVA) and the estimated two million Australians living with a rare disease, thank you to everyone who made the 2023 Sawatzky Cup tennis tournament possible on 22 January 2023. Over $11,000 has been raised with all proceeds going to RVA. These funds will help RVA continue overseeing the collaborative implementation of the National Strategic Action Plan for Rare Diseases (the Action Plan), the first nationally coordinated effort to address rare diseases in Australia.

Since the Action Plan’s launch in 2020, Australia’s rare disease sector has been collaboratively progressing its implementation and RVA has been leading this important work. Developed by the rare disease sector, for the rare disease sector, the Action Plan aims to deliver the best possible health and wellbeing outcomes for Australians living with a rare disease.

Images supplied by Scotty’s Media, official photographer and videographer for the 2023 Sawatzky Cup

Special thanks to the event organiser, Norman Burns, who made the event a reality in honour of his mate and the much-loved Ross Sawatzky. Norman has put an incredible amount of effort and work into organising the tournament.

RVA also thanks the Sawatzky family and everyone who supported the event, including the players; sponsors; spectators; those who donated; and everyone else involved. There’s still time to make a donation via this link.

RVA Director, Kane Blackman; RVA Scientific and Medical Advisory Committee (SMAC) member, Dr Kristen Nowak; Jess Brooklyn, RVA’s Education Project Officer; and RVA Ambassador, Andrew Bannister, were excited to attend the event and share more about rare diseases.

Images supplied by Andrew Bannister, RVA Ambassador

About rare diseases

• An estimated two million Australians are living with a rare disease
• It is prominently cited that there are more than 7,000 different rare diseases
• There is no cure for many rare diseases, so improving quality of life and extending life expectancy of people living with a rare disease is vital

Associate Professor Paul Lacaze, Head of Public Health and Genomics at Monash University, and member of Rare Voices Australia’s Scientific and Medical Advisory Committee (SMAC), was recently awarded $3 million through the Medical Research Futures Fund – Genomics Health Futures Mission. His research, a DNA Screen national pilot study, has received national media attention, with high levels of interest from the general community. The project will offer preventative DNA screening to healthy young adults to look for genetic variants that increase their risk to particular rare hereditary diseases.

Associate Professor Lacaze’s research aligns with several key Priorities and Actions in the National Strategic Action Plan for Rare Diseases. In particular, Action 2.2.1 in the Care and Support Pillar, ‘Ensure all Australians have equitable access to a range of diagnostic tools and tests, providing the best chance of early and accurate diagnosis’. Investment in rare disease research and prevention measures are also key areas of importance highlighted in the Action Plan.

In December 2022, Professor Lacaze’s work was recognised in the Department of Health news. You can read the full article here.

Held from 24-27 November 2022, the 45th Annual Scientific Meeting for the Human Genetics Society of Australasia (HGSA) attracted delegates representing various stakeholder groups from across Australia and around the world. The theme, Life Languages: Ancient Stories, New Conversations emphasised recent developments in genetics and genomics, with a diverse range of exceptional speakers. Plenary sessions and panel discussions covered areas including increasing diversity in rare disease research, Indigenous-led equitable access to genetic testing, data sharing and Indigenous data sovereignty, genomics research and precision health, genomics in newborn screening and novel gene therapies for rare disease. Updates were provided on the outcomes of McKenzie’s Mission and the Acute Care Genomics Program and, for the first time, the Sutherland Lecture was delivered by a genetic counsellor – RVA congratulates A/Prof Jodie Ingles, who was a speaker at the 2022 National Rare Disease Summit, on this prestigious honour.

Newborn Bloodspot Screening

Rare Voices Australia (RVA) was pleased to have two oral presentation abstracts accepted for the meeting. Louise Healy, RVA’s Education and Advocacy Manager, spoke at one of the Australasian Society for Inborn Errors of Metabolism Special Interest Group (ASIEM-SIG) sessions about The Changing Face of Newborn Screening – A Rare Disease Sector Forum hosted by RVA on 16 June 2022. This session brought together researchers recently awarded funding through the Medical Research Futures Fund, Genomics Health Futures Mission (Stream 2) grants (MRFF-GHFM grants), focused on research into genomic newborn screening (gNBS). RVA is a research partner on four of these projects.

With support from Australian Genomics, the recipients of these MRFF-GHFM grants have come together to form the GenSCAN Consortium (GenSCAN). GenSCAN is led by A/Prof Michael Gabbett from Queensland University of Technology’s Centre for Genomics and Personalised Health.  

The purpose of GenSCAN is to provide a collaborative forum for those involved in advancing the interrogation of genomics into NBS programs in Australia. The core objective of GenSCAN is to allow members to collaborate to learn from each other’s research projects and maximise the outputs of the MRFF-GHFM grants. As the expertise of the membership grows, GenSCAN will apply its exponential knowledge in gNBS to provide independent advice on issues emerging nationally and internationally in the area of gNBS. Hear from and learn about these projects directly from the lead researchers.

Rare Disease Workforce

Dr Falak Helwani, RVA’s Research and Evaluation Manger, also spoke in an ASIEM SIG session about the Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia and the National Strategy for Australia’s Rare Metabolic Workforce, which will be released in 2023. During this session, Dr Kris Elvidge from RVA Partner, Childhood Dementia Initiative (CDI), delivered a moving presentation on the impact of childhood dementia. This freely accessible PowerPoint presentation is part of a suite of resources created by CDI with funding from the Australian Government to raise awareness of childhood dementia among healthcare professionals. Several RVA Partners also attended the meeting.

RVA would like to thank the organisers of the meeting for the opportunity to share our work progressing the collaborative implementation of the National Strategic Action Plan for Rare Diseases and congratulate HGSA and everyone who contributed on a fantastic event.

Thank you to everyone who joined us in-person and virtually at Rare Voices Australia’s (RVA) 2022 National Rare Disease Summit (the Summit) on 11 and 12 November.

This was RVA’s first face-to-face Summit since 2018 due to COVID-19. The theme was, From Vision to Action: Celebrating 10 Years of Rare Disease Advocacy and Shaping the Next Decade. It was a pleasure to bring together key rare disease stakeholders to create a rare disease roadmap for the next 10 years, focusing on the National Strategic Action Plan for Rare Diseases.

RVA’s Chair, Joanna Betteridge, delivered a summary of the Summit to conclude the two-day event. We have transcribed Joanna’s summary here.

RVA also thanks those who joined us at our Gala Event on Friday evening to celebrate RVA’s 10th anniversary and 10 years of rare disease advocacy that influences policy and transforms lives. Thank you to our speakers and workshop facilitators who helped to make the Summit a success. RVA also acknowledges our RVA Ambassadors who so wonderfully opened the Summit by sharing their personal stories, which framed the event.

Special thanks to the Hon Mark Butler MP, Minister for Health and Aged Care, and Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care, for pre-recording video messages for the Summit. We also thank Dr Mike Freelander MP, Member for Macarthur; Chair of the Standing Committee on Health, Aged Care and Sport; and Co-Chair of the Parliamentary Friends of Australians Living with Rare Diseases for joining us in person.

In his video, Minister Butler launched the ‘Public Consultation Paper on the Newborn Bloodspot Screening Expansion’ (the Consultation Paper). RVA welcomes the Government’s consultation with stakeholders and will be responding to the Consultation Paper as the national peak body for Australians living with a rare disease. The Consultation Paper is available via the Government’s Consultation Hub until 12 December 2022. RVA has developed a resource to provide RVA Partner organisations, and the broader rare disease sector, with prompts that may assist in the development of a submission. Click here to read more and download the resource.

Feedback From Attendees

“I just left with such a buzz and so much joy. I can’t fault it. It was tiring and overwhelming but so fabulous.” – RVA Ambassador

“As my first time attending, I enjoyed all aspects of the Summit. The ambassadors’ personal stories were incredibly powerful and emphasised why RVA is so vital for the rare disease community.” – RVA Partner

“[The] Whole meeting was excellent as well as the networking. Ambassador stories give the purpose to RVA policies.” – Clinician

“This was honestly one of the best conferences I have been to with a good mix of presentations, Q&A and highly interactive workshops. The Summit was also the perfect size—not too big and not too small. Large enough to have a diverse set of attendees but small enough that you had the opportunity to cross paths with many others.” – Researcher

“It [the Action Plan] now does not sit as a document but has had life through ideas breathed into it.” – Industry

Next Steps

RVA is currently putting together a summary of the workshop reports backs, which will be shared with Summit attendees. All stakeholders who attended the Summit participated and contributed to the workshop sessions. We anticipate the summary will be distributed in early 2023.

On 11 November 2022, at Rare Voices Australia’s (RVA) National Rare Disease Summit, the Hon Mark Butler MP, Minister for Health and Aged Care, announced a public consultation on the expansion of newborn bloodspot screening (NBS). This announcement followed the Australian Government’s commitment to invest $39 million over four years to expand NBS to include more conditions and ensure consistency of programs across Australia. Historically, NBS programs have been funded and implemented at a state government level. RVA welcomes the commitment and investment by the Commonwealth into this critical program.

Why this is important

Australia’s NBS program is important for the rare disease community as the majority of conditions currently screened, and being considered for screening, are rare conditions. 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. The rare disease community has been calling for increased equity, timeliness and consistency of screening for many years. As the national peak body for Australians living with a rare disease, RVA has been highlighting the need for increased sustainability, equity, transparency and consistency of screening for NBS for some time. RVA has conducted targeted advocacy at both the Commonwealth and state levels over the last two years. We also acknowledge the advocacy of our RVA Partner organisations and the broader rare disease sector.

Developing your submission

This consultation is an opportunity for stakeholders to lodge their input into NBS policy decisions. RVA has developed this resource to provide RVA Partner organisations, and the broader rare disease sector, with prompts that may assist in the development of a submission. Not all prompts will be relevant for all submissions.

Download the resource [PDF]

RVA Partners can also access customised mentoring support by contacting Louise Healy, RVA’s Education and Advocacy Manager: [email protected].

Rare Voices Australia (RVA) is working with Mental Health First Aid (MHFA) Australia to offer RVA Partner organisations the opportunity to train one leader in their organisation as a MHFA Officer. 

One aim of this project is to build the capacity of rare disease organisations to provide wellbeing and mental health support to their rare disease community. This aligns with Action 2.5.3 of the National Strategic Action Plan for Rare Diseases (the Action Plan). This initiative is funded through the Rare Disease Awareness, Education, Support, and Training (RArEST) Project. Read more background information here.

The final MHFA training sessions for 2022 on Tuesday 15 and 22 November 2022 from 6pm to 9pm AEST are now at capacity. However, RVA Partner organisation representatives can add their name to a wait list by completing this form. RVA will cover the cost of the MHFA course, which will be delivered in an online format. This includes a hard copy of the MHFA manual that will be mailed to participants.

The final session will run on:

• Tuesday 15 November and 22 November 2022 from 6pm to 9pm AEST – RSVP by Tuesday 8 November  

Please take the time to read what is involved, who is eligible to participate in this training and the commitment you are making before registering. Click through for more information.

If you or a member of your organisation is interested in participating, please complete this form. We thank the RVA Partner representatives who have already participated in this training.

In February 2022, Rare Voices Australia (RVA) and Equity Economics and Development Partners launched the Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia (the White Paper). This pilot project, focusing on the workforce challenges of the rare metabolic disease workforce, is an initial step to progress the development of a national rare disease workforce strategy. It specifically addresses Priority 3.1 of the National Strategic Action Plan for Rare Diseases, ‘Develop a national rare disease workforce strategy that respond to current and future demands, including the impact of genomics’.

Since its launch, RVA has had formal meetings and/or engaged with key politicians and State Departments of Health across New South Wales, Victoria, Queensland, Tasmania, Western Australia and South Australia, as well as with experts from the Human Genetics Society of Australasia (HGSA) and the Australasian Society for Inborn Errors of Metabolism (ASIEM) regarding the White Paper. The purpose of these meetings was to share White Paper findings relevant to each jurisdiction and discuss the way forward to address the urgent unmet need and barriers to delivering best practice rare metabolic care for all Australians.

Based on discussions at these meetings and guided by the 5 key findings in the White Paper, RVA has been developing a Draft Strategy for the Australian Rare Metabolic Workforce (Draft Strategy). The Draft Strategy outlines goals, recommendations and priority actions for improving outcomes for people living with a rare metabolic disease. Consultations are still underway to develop the Draft Strategy to ensure it is robust and attainable. The Draft Strategy will soon be shared with the White Paper Steering Committee, HGSA, ASIEM and other key stakeholders.

Adding to RVA’s list of post-launch consultations and led by the keen interest of several RVA Partner organisations, on 13 July, RVA met virtually with several RVA Partners to share and discuss the Draft Strategy. Following this meeting, the Draft Strategy was revised to address key concerns and gaps raised by RVA Partners. In the same forum, RVA Partners worked together to co-develop an advocacy strategy that not only broadly promotes the White Paper findings and Draft Strategy, but also overlays the nuanced challenges of their communities living with very different rare metabolic diseases. RVA Partners committed to an advocacy strategy that leverages their existing collective relationships to influence key decision makers in every jurisdiction across Australia.

RVA would like to thank the following RVA Partner organisations for their attendance at this meeting and ongoing support and involvement in this body of work.

• Australian NPC Disease Foundation
• Australian Pompe Association
• Gaucher Association of Australia and NZ
• Immune Deficiency Foundation of Australia
• Metabolic and Dietary Disorders Association
• Mito Foundation
• Sanfilippo Children’s Foundation

If you would like more information about this work, or if you are an RVA Partner wanting support to advocate on behalf of your community about the implications of the White Paper findings or Draft Strategy please contact Louise Healy, Education and Advocacy Manager, at [email protected].

Rare Voices Australia (RVA) is excited to be expanding our team! We are looking to recruit a communications and administrative all-rounder to complete a wide range of tasks.

The suitable candidate will support RVA’s Communications Manager and Administrative Manager. 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 11 July 2022 at 5.00pm AEST.

Download the full position description.

Rare Voices Australia (RVA) is currently working on a mental health and wellbeing project based on recommendations in the National Strategic Action Plan for Rare Diseases (the Action Plan). Thank you to the RVA Partner organisations that have contributed to this project so far.

One aim of the project is to build the capacity of rare disease organisations to provide wellbeing and mental health support to their rare disease community. This aligns with Action 2.5.3 of the Action Plan and responds to feedback received from rare disease organisation leaders during the Action Plan consultation process.

RVA is pleased to be working with Mental Health First Aid (MHFA) Australia to offer RVA Partner organisations the opportunity to train one leader in their organisation who is willing to be a MHFA Officer for their community and potentially, others in the rare disease community. More information about MHFA Australia. This initiative is funded through the Rare Disease Awareness, Education, Support and Training (RAREST) Project.

What is involved and what commitment am I making?

It is expected that those volunteering to complete the MHFA training are willing and have the capacity to provide MHFA support to their rare disease community on an ongoing basis. The training is provided using Australian contexts and resources. This MHFA program supports adults.

Please read the details and commitments involved in completing the course.

Note:
1. The course is run over two separate online videoconference sessions, each 3 hours in length (see the below times and dates for more)

2. There is also a self-paced e-learning component (approximately 5 to 7 hours in length) that needs to be completed prior to the first videoconference session

Who is eligible to participate in this training?

MHFA Australia states that to be eligible to complete this MHFA training, participants must be:

• Australian residents  
• Over the age of 18  

Additionally, RVA asks that:

• You have access to and can use a computer with an internet connection to participate in the course via videoconference  
• You are currently a rare disease group leader or are in a position of leadership within an RVA Partner organisation  
• You do not have current MHFA accreditation  

What is the cost?

RVA will cover the costs of the MHFA course, which will be delivered in an online format. This includes a hard copy of the MHFA manual that will be mailed to you.

Final MHFA training session:

• Tuesday 15 November and 22 November 2022 from 6pm to 9pm AEST – RSVP by Tuesday 8 November 

The final MHFA training sessions for 2022 in November are now at capacity. However, RVA Partner organisation representatives can add their name to a wait list by completing this form.

If you have any questions regarding this training, please contact: [email protected].

How does our organisation lodge our interest in participating?

If your proposed participant meets the eligibility criteria and would like to participate in the next MHFA course, please complete this form.

Please note: if the applicant is confirmed as a participant, the contact information provided in the form above will be provided to the MHFA course facilitator for the program so they can liaise directly with attendees.

Youth and Aboriginal and Torres Strait Islander People MHFA Courses

RVA is also planning to support a small number of people to complete the youth and Aboriginal and Torres Strait Islander people MHFA training courses. These courses are for adults living or working with adolescents and those interested in the Aboriginal and Torres Strait Islander people MHFA training.

If you are interested in completing these courses, please reach out via email: [email protected].

Meet Your Facilitator Cate Clark

The course will be facilitated by MHFA instructor Cate Clark. Cate is a highly skilled Credential Mental Health Nurse with extensive experience across all aspects of mental health in both the public and private sectors. Over her 40 years as a practitioner, she has developed an approach focussed on trauma-informed care and recovery-based interventions. Cate is a creative person with a passion for mental health and a genuine interest in people. She has a particular interest in working with families and carers and in capacity building in communities. Read more about Cate and her role as an MHFA instructor.

Ahead of the Federal Election, RVA was excited to welcome the Australian Labor Party’s (ALP) commitment, if elected, to invest in consistent and equitable newborn bloodspot screening (NBS). The ALP forming a majority government presents the rare disease sector with a timely opportunity to revisit the challenges and gaps with NBS that RVA has been raising with Commonwealth and State governments over the last two years.

RVA is hosting a virtual newborn bloodspot screening (NBS) forum on Thursday 16 June from 12:30pm to 2:30pm AEST. The forum will bring together RVA Partners, NBS clinical and research experts, NBS policy experts and industry to discuss the importance of a consistent and equitable program, the role of national leadership, how the NBS program is changing and what these changes mean for the rare disease sector. Other topics may include how Australia’s NBS program compares to international programs, emerging research in the NBS space, the role of genomics and the link between NBS, care and policy.

Note: You must register to attend.

If you have already registered, you should have received a confirmation email from Zoom with the webinar ID, passcode and how to join the webinar on Thursday 16 June. Please also check your Junk and Other folders. If you do not have this information, please email: [email protected]

Agenda

12:30pm: Welcome and Personal Story
Louise Healy, Education and Advocacy Manager, RVA

Forum Objectives
Nicole Millis, Chief Executive Officer (CEO), RVA

Opening Address
Hon Ged Kearney MP, Assistant Minister for Health and Aged Care, Australian Labor Party

NBS Basics and Key Principles
Dr Kevin Carpenter, CEO, Human Genetics Society of Australasia (HGSA)

NBS: The International Perspective
Dr Dianne Webster, Vice President, International Society for Neonatal Screening

Important Ethical, Legal and Social Issues (ELSI) Considerations for NBS
Prof Ainsley Newson, Professor of Bioethics, University of Sydney

Case Study: What is Needed in NBS
A/Prof Michelle Farrar, School of Women’s and Children’s Health, University of New South Wales; Paediatric Neurologist, Sydney Children’s Hospital Randwick

NBS and Genomics; Other Pathways to Early Diagnosis
Tiffany Boughtwood, Managing Director, Australian Genomics

The Australian Government’s Commitment to NBS
Dr Mike Freelander MP, Member for Macarthur, Australian Labor Party

1:43pm—2:30pm: NBS Q&A Panel Discussion: Multi-Stakeholder Perspectives
Dr Mike Freelander MP, Dr Kevin Carpenter, A/Prof Michelle Farrar, Louise Healy, A/Prof Sebastian Lunke (Clinical Scientist, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute)

Moderated by Nicole Millis
 
*Please note: Timings are listed in AEST and are an estimate only. The Agenda is subject to change.

Registration has now closed. The recording will be available on RVA’s Online Education Portal soon.