RVA Partner Organisations: November Mental Health First Aid Training Accreditation

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.

Update: Progress Towards a National Strategy for Australia’s Rare Metabolic Diseases Workforce

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 education@rarevoices.org.au.

RVA is Hiring: Communications and Administrative Officer

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.

Mental Health First Aid Training for Rare Voices Australia Partner Organisations

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: info@rarevoices.org.au.

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: info@rarevoices.org.au.

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.

RVA Education: The Changing Face of Newborn Bloodspot Screening – A Rare Disease Sector Forum

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: communications@rarevoices.org.au

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.

Rare Disease Registry Audit: Key Findings and Project Update

The much-awaited key findings from the Australian Rare Disease Registry Audit project, led by Monash University registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite, are in. Rare Voices Australia (RVA) is overseeing this critical work in recognition of the importance of rare disease registries (RDRs), which is acknowledged in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). Thank you to the rare disease community for your genuine interest in this work and to all RVA Partners and registry managers who dedicated their time to participate in the survey and interviews. Your contributions have shaped this important first step towards a national approach to RDRs in Australia.

The importance of RDRs

The Action Plan highlights that in Australia, data for most rare diseases is not captured in either health information systems or registries and there is no coordinated strategy to collect, measure, build and translate data that does exist.

Registries have the capacity to:
• facilitate public reporting and knowledge building
• reveal differences in care practices and process and the impact of both on patients
• identify best practice and target areas for future improvement
• reveal information about incidence, prevalence, epidemiology, impact, treatment outcomes, the natural history of diseases and much more.

Why is a national approach to rare disease registries so important?

The challenges of rare disease registries are multifaceted and complex. In line with the Action Plan, a national approach to rare disease registries is vital because it is not practical or economically feasible to create clinical quality registries for every rare disease.

Implementation step 3.1.4.1. in the Action Plan outlines the first step to achieve a national approach:

Develop a summary report of all existing Australian and relevant international rare disease registries, collecting information on:
• governance standards;
• management practices;
• data sets, including patient numbers, estimated incidence, prevalence and coverage; and
• classification systems used (for interoperability with other registries and health information
systems).

This information will support national coordination of rare disease registries and the establishment of minimum data sets, to provide a better understanding of who is currently being counted and aid identification of best practice.

Rare Disease Registry Audit

Objectives

The Rare Disease Registry Audit progresses the work outlined in Implementation step 3.1.4.1. in the Action Plan.

The objectives of this project were to highlight the ‘current state of play’ of RDRs in Australia, including what RDRs exist nationally, how they are funded, what they do with their data and their impact on patient outcomes. Other areas addressed through consultation with existing Australian RDRs included barriers and enablers to setting up sustainable RDRs, perceptions about the future potential for RDRs to improve clinical outcomes and ideas for the way forward.

Key Findings

Key Finding 1: Data collected by RDRs

  • 43% collect information related to treatments
  • 50% collect clinical/diagnostic information
  • 50% collect demographic data
  • 25% collect information related to adverse events
  • 43% collect Patient Reported Outcome Measures (PROMS)/Quality of Life Measures (QoL)

Key Finding 2: Uses of data collected by RDRs

  • 45% use data for research (e.g. clinical trials, epidemiological modelling, collaborative projects, secondary data)
  • 12% use data for post-marketing surveillance for high-cost medicines
  • 32% produce publications

Key finding 3: Impact of RDR’s not measured

The impact of rare disease registries is not routinely measured. The study showed there are clear examples of RDRs having a positive impact.

The Australian Cystic Fibrosis Data Registry (ACFDR) for example, is a long-standing, clinician led international cystic fibrosis (CF) registry, established in 1996. ACFDR has benefited from strong community support and advocacy by former Australian Health Ministers. This support has allowed ACFDR to capture data from over 3,500 people (over 90% of Australians) living with CF. ACFDR has played a crucial role in:

  • improving clinical outcomes
  • facilitating recruitment to clinical trials
  • driving epidemiological modelling
  • driving collaborative research
  • tracking long-term outcomes of those on new generation modulator drugs (post-market surveillance)
  • monitoring preventative care interventions as the population ages.

Nonetheless, of the 40 RDRs surveyed, the majority shared that the impact of their registry on the community was not measured or no direct impact had been made—mainly due to small sample sizes or a slow rollout. Of those registries measuring impact, the top three areas where this impact was demonstrated were changes in treatment outcomes, process of care and quality of care.

Key finding 4: Common challenges for RDRs

Together, data from the literature review, survey and interviews identified several challenges and enablers of running RDRs.

Challenges:

  • insufficient funding and resources
  • sustainability
  • lack of government support
  • recruitment
  • governance
  • transparency of data use
  • data completeness
  • limitations on the types of data that can be collected by organisations who are not registered health providers
  • difficulties obtaining ethics approval, and barriers to collecting biological samples from rural and remote communities were also reported.

Enablers:

  • dedicated staff
  • contribution of clinicians’ time
  • enthusiasm and commitment from a steering committee
  • well defined cope and objectives
  • site participation
  • funding.

Interview respondents’ views for the way forward for rare disease registries in Australia

In line with the Action Plan, all interviewees were in favour of a national approach to RDRs. Discussions centred on:

  • the need for a nationally consistent minimum dataset
  • the need for a register of registries
  • integration with other registries and international datasets
  • interoperability
  • most appropriate platforms
  • increased participation in registries
  • the community education on the value of registries
  • data security and confidentiality.

Where did the data come from?

  • 74 RDRs and databases collecting Australian data were identified in the literature – 19 were global, 24 were Australian, 10 were Australia and New Zealand-based, 5 were state-based and 16 were Australian umbrella registries capturing data on multiple conditions.
  • 40 registries collecting Australian data responded to the survey – 9 were Australian, 12 were state-based, 5 were Australia and New Zealand-based and the remaining 14 were global.
  • Of the 40 registries who responded to the survey, 8 registry managers agreed to take part in one-on-one interviews; 4 of these registry managers ran global registries.

What next?

These findings will inform recommendations and next steps for rare disease data collection in Australia. They will become the evidence-base for conversations with key decision makers to drive policy that supports RDRs and infrastructure to meet Action 3.1.4 in the Action Plan ‘Develop a national approach to person-centred rare disease registries to support national standards, best practice and minimum data sets’.

New online course for setting up a rare disease registry coming soon to RVA’s Online Education Portal

Thanks to the interest of RVA Partners, this work has inspired RVA to develop education around building a RDR. This online course will be co-developed with Dr Ruseckaite, Professor Ahern and other registry experts. RVA anticipates this course will be available on RVA’s Online Education Portal in late 2022.

Launched: A Guide for Rare Disease Organisation Leaders in Australia

Rare disease organisations are an important part of the Australian rare disease community. These organisations can understand, capture and communicate the lived experience of those impacted by a rare condition in a way no one else in the sector can. The rare disease community has specific and essential expertise in living with a rare condition and understanding the challenges, needs and burdens these conditions impose. This makes rare disease organisations and their leaders an essential part of the sector. 

“Rare disease organisations play a key role in raising disease awareness and providing critical person-centred information. These organisations are vital to the rare disease sector and often fill gaps in the system, not just in terms of awareness and education, but also care and support and, increasingly, in the research sphere.” — National Strategic Action Plan for Rare Diseases (2020)

The National Strategic Action Plan for Rare Diseases (the Action Plan) recognises the critical role rare disease organisations play in the rare disease sector. Providing support, education, advocacy and initiating research in the rare disease sector is complex.

To help address the need for additional support and resources to strengthen the rare disease sector, which is acknowledged in the Action Plan, Rare Voices Australia (RVA) is launching Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia (the Guide).

Who Is the Guide for and How Can It Be Used?

The Guide is for both established rare disease organisations and those who are interested in setting up an organisation. For existing rare disease organisations, the Guide can be used in several ways to complement the current status, resources and development phase of your organisation. For those who are investigating how to establish an organisation, this is an easy to follow resource that covers the key areas to consider.

Chapter Breakdown

Chapter 1:
Introduction to Rare Diseases, RVA, the Australian Landscape and the Action Plan
Chapter 2: Rare Disease Organisation Strategy
Chapter 3: The Vital Roles of Rare Disease Organisations
Chapter 4: Ethical Rare Disease Organisations
Chapter 5: Governance Foundations
Chapter 6: Funding Your Rare Disease Organisation
Chapter 7: Community Engagement
Appendices: Assessment Tools and Planning Template

Each section also contains information about the topic, links to relevant resources and a checklist or self-evaluation tool for identifying current strengths and areas for development.

Thank you to several of our RVA Partner organisations who contributed to the Guide throughout its evolution.

Download Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia (PDF)

If you have any questions about this Guide or any other education-related matters, please reach out to RVA’s Education and Advocacy Manager: education@rarevoices.org.au


RVA is Hiring: Project Officer – Mental Health and Wellbeing (Maternity Leave Position)

Rare Voices Australia (RVA) is looking to hire a Project Officer – Mental Health and Wellbeing (Maternity Leave Position).

The Project Officer – Mental Health and Wellbeing will play a key role in delivering the RArEST (Rare Awareness, Education, Support and Training) Project. The RArEST Project will contribute to the collaborative implementation of the National Strategic Action Plan for Rare Diseases. The successful candidate will work alongside the RVA team to identify the unmet needs of Australians living with a rare disease.

The Project Officer – Mental Health and Wellbeing will help to research, design and deliver customised and evidence-based mental health and wellbeing resources to a range of stakeholders in the rare disease community.

This position is suited to an individual with exceptional communication and people skills. Strong skills and experience in workshop facilitation and public speaking are required.

Download the full position description.

Meet Our 2022 Rare Voices Australia Ambassadors!

In 2022, Rare Voices Australia (RVA) is celebrating 10 years of rare disease advocacy. RVA’s 10th Anniversary Ambassador Program (the Ambassador Program) is one of several initiatives we are unveiling in 2022 to celebrate 10 years of rare disease advocacy. The overarching theme of the Ambassador Program is, Illuminating People Living with a Rare Disease.

We are thrilled to welcome our first group of official 2022 RVA Ambassadors and thank them for being involved in this new initiative. Each ambassador brings their own unique lived experience of rare disease. We will be sharing more about our RVA Ambassadors over the course of 2022 so be sure to follow RVA’s social media channels and sign up to receive our monthly eNewsletter.

RVA is currently seeking expressions of interest from Aboriginal and Torres Strait Islander people and people from culturally and linguistically diverse (CALD) backgrounds who are interested in becoming a 2022 RVA Ambassador (see the ambassador requirements). Those interested are encouraged to reach out to RVA: communications@rarevoices.org.au

Introducing our 2022 RVA Ambassadors

Katie Alexander

Image credit: Alison Wynd, 2019, News Corporation

Frequent falls, extreme fatigue and pain led to Katie’s diagnosis of Dermatomyositis. The rare disease destroys skin, muscles, tendons and organs reducing strength, dexterity and mobility. It can present with cancer, cardiac and auto-immune conditions. Myositis is fatal when inflammation scars the heart (Cardiomyopathy) and lungs (Interstitial Lung Disease). Katie’s Myositis symptoms were untreated for nearly 40 years until advanced disease prevented her from climbing stairs and rising from chairs. By then her muscles were wasting, dying and shortening. Katie had problems chewing, swallowing and speaking. Significant hair loss, skin rashes, peeling, lumps and blood spots changed her appearance. The aggressive disease was resistant to pharmacological treatment (steroids, chemotherapy, immunotherapy) until a kinase (JAK) inhibitor was trialled in 2021. Katie is very grateful for this respite and now shares her experiences of rare disease, disability and family violence through advocacy roles with the National Disability Insurance Agency (NDIA), Safe Steps, Peter MacCallum Cancer Hospital, Monash University and RMIT University.

Andrew Bannister

Andrew was born with three rare brain malformations – Periventricular Nodular Heterotopia (PVNH), Polymicrogyria and Cerebella Hypoplasia – as well as two other congenital malformations. His cerebellum is a quarter of the average size. These rare malformations have not stopped him achieving many things even though he has an intellectual and physical disability. Andrew’s determination to overcome the obstacles in his life inspires people, yet it is he who wants to help others by raising awareness about rare diseases. Among others, Andrew played a key role in the formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia in 2021. Additionally, since 2020, Andrew has played a pivotal role in organising illuminations for Rare Disease Day in Australia.

Lachy Beckett

Lachy was diagnosed with a rare disease called Juvenile Dermatomyositis (JDM) when he was three years old. JDM is a form of Myositis affecting children. Myositis is a group of rare autoimmune diseases affecting the muscles. Lachy has been active as a volunteer in raising awareness for people with rare diseases for the past 10 years. He is currently involved in a business start-up with his family and in his spare time, loves playing guitar, reading and playing chess.

Ebony Callaghan

Ebony is 24 years old, lives with Intestinal Failure and requires Home Parenteral Nutrition. For the first few years of her life, no one noticed anything unusual apart from severe reflux and moderate constipation. At 11 she became unwell with what was thought to be a simple gastro bug, but after a week or two, she wasn’t better and was admitted to hospital for investigation. At 17 she was eventually diagnosed with Superior Mesenteric Artery Syndrome (SMAS), a very rare and life-threatening digestive system disorder that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and superior mesenteric artery). Ebony feels incredibly lucky to have been chosen to be an RVA Ambassador and looks forward to sharing more of her story and lived experience.

Nathan Charles

At three months of age, Nathan was diagnosed with Cystic Fibrosis (CF) and his parents were told he may not make it to his 10th birthday. Nathan’s resolve never faltered despite a future that was likely to be filled with challenges. His passion for rugby eventually saw him living out his childhood dream of playing for Australia in the Wallabies’ second test against France at the age of 25. Throughout his career and life, Nathan has been adamant not to be defined by CF and has never viewed his condition as an obstacle to success in any facet of life. Today, Nathan is the Chief Executive Officer of Rugby WA. 

Tim Fulton

Tim was formally diagnosed with Adult-onset Still’s disease (Still’s disease) in 2016 at the age of 22. Still’s disease is a rare systemic, auto-inflammatory condition that affects between one in 100,000 to one in 1,000,000 people globally. In August 2020, to stay on top of his mental health, combat the effects of calcium leaching from medication and driven by his desire to encourage people, in particular the rare disease community, Tim set himself the goal of running 100km before Rare Disease Day — a big audacious goal given his health! He began the Instagram page Running Rare to document his progress and this has evolved to the development of an accompanying website to encourage and uplift the rare disease community. Tim is a big believer of living with a ‘it is possible’ attitude. This doesn’t mean you’re naive to the reality of your circumstances, but it does encourage and motivate you to think about what might make something possible — and that is such an important first step.

Tammie Rees

Tammie is the mother of two children and lives in regional Victoria. Her youngest is currently 4 years old and was born and diagnosed in 2017 with Maple Syrup Urine Disease. Tammie says it’s been a very big learning journey but one in which her family has managed to find their feet and now are ready to have their voices heard on important issues such as inclusion, research, cures and anything else they can do to help. She is excited to see what we can achieve together. When Tammie is not busy working and with family life, she enjoys running and fitness classes.

Beck Webber

In 2014, Beck noticed small micro changes in the way her body operated, which was noted in her medical files. On Christmas night in 2017, she fell down a flight of 11 stairs after losing her feet on the top step. This resulted in her spending the next 12 months with a crushed disc and surgery to replace the disc and rods in her back. In 2020, Beck noticed she was becoming highly fatigued, sleeping all day and her legs either felt like jelly or stiff as a board. After a blood test was sent to the United States of America for genetic testing, she was eventually diagnosed with Spinocerebellar ataxia type 36 (SCA36). Beck is looking forward to ‘illuminating’ the rare disease cohort in a more public manner and sharing her experiences as a para equestrian athlete.

Renae Wood

Renae is 27 and is based in Brisbane, Queensland. She was born with a rare disease called Epidermolysis Bullosa (EB), which is a condition that causes fragile, blistering skin that also tears easily and scars. The gene fault that caused Renae’s EB is rare and is also responsible for her diagnoses of alopecia and dilated cardiomyopathy. Living with rare disease can feel isolating and can make life unpredictable, which is why Renae feels it’s important for those living with a rare disease to share their experiences. Renae’s hope is to empower people to share their stories, so that we are reminded that we’re not alone but are part of one brave community!

RVA Full Statement: Budget 2022-23 and Australians Living with a Rare Disease

On Tuesday, 29 March 2022, the Hon Josh Frydenberg MP (Treasurer of Australia) announced the Morrison Government’s 2022-23 Federal Budget, which included a record investment in Australia’s health system with a total commitment of $537 billion over the next four years.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) attended the Department of Health’s Portfolio Briefing webinar presentation and Q&A with the Hon Greg Hunt MP (Minister for Health and Aged Care); the Hon Dr David Gillespie MP (Minister for Regional Health); the Hon David Coleman MP (Assistant Minister to the Prime Minister for Mental Health and Suicide Prevention); and Senator the Hon Richard Colbeck (Minister for Senior Australians and Aged Care Services). The session was facilitated by Dr Brendan Murphy, Secretary of the Department of Health.

In our Budget Statement, RVA has highlighted areas of the Budget we believe are most relevant to Australians living with a rare disease and the rare disease sector.

Download RVA’s Budget Statement [PDF]