Category: News

RVA is looking for an Operations and Compliance Manager ​to join our passionate and dedicated team! RVA is Australia’s national non profit peak body, representing people who live with a rare disease. We are dedicated to working with all stakeholders to drive the best outcomes for Australians living with a rare disease.

The successful candidate will play a key role in identifying and facilitating the necessary operational compliance systems for the organisation. The Operations and Compliance Manager will engage with RVA’s Chief Executive Officer and staff to support operational compliance administration.

Download this PDF for the full position description. Applications close at 5pm (AEDT) on 4 October 2021.

RVA is looking for a Project Officer – Mental Health and Wellbeing ​to join our passionate and dedicated team! RVA is Australia’s national non profit peak body, representing people who live with a rare disease. We are dedicated to working with all stakeholders to drive the best outcomes for Australians living with a rare disease.

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 Rare Voices Australia 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.

Download this PDF for the full position description. Applications close at 5pm (AEDT) on 4 October 2021.

The Australian Government is proposing changes to National Disability Insurance Scheme (NDIS) legislation with the goal to make processes easier and better for NDIS participants. The proposed changes are informed by the outcomes of the 2019 independent review of NDIS legislation, which was conducted by David Tune AO PSM. The Government is engaging in a public consultation to gather feedback about the legislation reforms.

The proposed Bill

The proposed Bill will make amendments to the NDIS Act and Rules, giving effect to 14 of the Tune recommendations, in whole or in part. A key recommendation is the introduction of a Participant Service Guarantee to set standards for how long NDIS processes (e.g. approving or amending an NDIS Plan) will take and how the National Disability Insurance Agency (NDIA) will work with those living with a disability. Read more via the Department of Social Services’ Engage website.

Public consultation process – open until midnight, 7 October 2021

The Government is accepting feedback and submissions regarding the legislation reforms until midnight, 7 October 2021. Click here to learn how you can register for one of the public consultation briefing sessions and here for how you can make a submission.

Rare Voices Australia (RVA) has written to the Minister for the NDIS and key Opposition spokespeople to express concern that the length of the consultation period is inadequate for such a significant consultation. We have requested that the consultation period be extended and will inform you of the outcome of this request.

RVA will lodge a submission and we encourage those living with a rare disease who are NDIS participants, or whose community members are NDIS participants, to lodge a submission. This will ensure that the voices of people living with a rare disease, as well as their families and carers, are heard.

RVA Partner organisations that are looking to lodge a submission into this public consultation are encouraged to reach out to RVA for mentorship support: [email protected]

Why this consultation is important for people living with a rare disease

There is clear cross over between many rare diseases and disability. Aspects of the National Strategic Action Plan for Rare Diseases (the Action Plan) specifically address the NDIS and the arbitrary and unhelpful line that is often drawn between medical issues and disability. In particular, the Action Plan highlights the need for coordinated and integrated care (see Appendix 1).

Since 2012, RVA has consistently highlighted the impact of disability on the lives of people living with a rare disease. In 2019, RVA commissioned the McKell Institute to deliver a white paper, Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases, which informed the Action Plan.

The EURORDIS Rare Barometer Project is developing a global survey on diagnosis. EURORDIS is working with Rare Voices Australia (RVA) to include Australian perspectives in this work. EURORDIS is keen to talk to Australian rare disease organisation leaders to help them develop the final questionnaire. 

The Project Team has decided to pursue a different approach to the methodology. Instead of conducting one-to-one interviews, they will invite patient advocates to a live online community where they can take part in individual activities and collective discussions with other participants.  

The online community will take place from 20 – 24 September. And include patient advocates from Europe as well as the identified target countries, which include Australia. Participants will take part in 15-20 minutes of activity each day for five days on an online platform where new questions will be posted, and new discussions will be assigned each day by a moderator.

Participants are asked to pre-register by filling in this pre-registration form no later than 16 September.

The online platform will be facilitated by an independent research institute (OpinionWay Healthcare). Participants can answer questions by posting a text, image or video. During this phase, there are only limited places available on the platform, and participants will be selected based on the study criteria by EURORDIS.

RVA staff have preregistered but were also keen to open up this opportunity to RVA Partner organisations with an interest in diagnosis and/or informing research design.

Congratulations to RVA Partner, Congenital Adrenal Hyperplasia Support Group Australia, for their successful advocacy on behalf of their community resulting in the pilot screening for congenital adrenal hyperplasia (CAH) on the Victorian Newborn Bloodspot Screening (NBS) Program!  

Rare Voices Australia (RVA) welcomes the Victorian Government’s announcement and thanks them for their ongoing engagement with RVA regarding this issue. NBS is an important program that supports the earliest possible diagnosis of this rare disease. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better patient outcomes as it enables the best immediate treatment and care.   

RVA will continue to work with the Commonwealth and State Governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program.  

Click here to read more.

Rare Voices Australia (RVA) welcomes the formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia (WA)!

The Hon Matthew Swinbourn MLC, Hon Donna Faragher MLC and Hon Stephen Pratt MLC have come together to increase awareness about rare and undiagnosed diseases in WA. The non-partisan Parliamentary Friendship Group aims to provide opportunities for Members of Parliament to learn about the needs of people with rare and undiagnosed diseases, as well as the challenges and opportunities involved in providing care and support to them. Click here to learn more and here to watch the Hon Matthew Swinbourn MLC announce the formation of the Group in the Parliament of Western Australia.

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RVA looks forward to working with the Parliamentary Friendship Group on the issues that impact those living with a rare disease, their families and carers, including WA’s response to the priorities, actions and implementation steps outlined in the National Strategic Action Plan for Rare Diseases.

Rare Voices Australia (RVA) welcomes the Western Australian (WA) Government’s commitment to begin the implementation process to add congenital adrenal hyperplasia (CAH) to WA’s Newborn Bloodspot Screening (NBS) Program. Phase one of implementation involves the establishment of the required staffing and equipment, in accordance with the national recommendation endorsed by Australian Governments, to ensure the successful rollout of quality and safe screening of infants for CAH. Today’s announcement is a positive step forward for RVA Partner, Congenital Adrenal Hyperplasia Support Group Australia, and the CAH community. RVA urges the WA Government to prioritise the timely completion of this initial implementation phase so that the screening of babies can commence as soon as possible.

Additionally, the Hon Roger Cook, WA’s Minister for Health, has announced funding for a pilot project that will enable NBS for spinal muscular atrophy (SMA) following preparation of the required equipment, training of staff, development of testing protocols and clinical and care pathways. This announcement is encouraging for RVA Partner, SMA Australia, and the SMA community.  

RVA welcomes both announcements and thanks the WA Government for their ongoing engagement with RVA regarding this issue. NBS is an important and life-changing program that screens for certain rare genetic conditions and metabolic disorders. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis enables the best clinical care, treatment options, access to services, peer support, increased reproductive confidence and access to participation in clinical trials.  

As with the Commonwealth and other State Governments, RVA will continue to engage with the WA Government to ensure the increased sustainability, equity and transparency of the NBS Program across Australia.

Click here to read the WA Government’s media release.

Thanks to the more than 250 Australians with bone marrow failure syndromes who have registered with the Australian Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR), researchers are getting a better picture of these important rare conditions in Australia.

What are bone marrow failure syndromes?

A healthy bone marrow is vital to produce red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help form blood clots). Many factors affect blood cell production, but inherited, immune and other bone marrow failure syndromes (BMFS), including aplastic anaemia (AA), can lead to severe anaemia and risk of infection and bleeding. While these syndromes are rare, they are serious and may be life-threatening.

Making the correct diagnosis is essential to inform treatment options and counselling. The term AA usually refers to the acquired, immune-mediated disease, however, there are also a whole range of inherited BMFS (IBMFS) that can mimic AA. Both AA and IBMFS are rare conditions but are increasingly recognised as distinct entities, especially now with greater access to molecular diagnostic tests. It is also recognised that people with BMFS, both inherited and acquired, are at an increased risk of developing haematological cancers, and the level of risk varies according to the particular subtype of BMFS.

Depending on the specific diagnosis and an individual’s situation, treatment may include immunosuppression, haematopoietic stem cell transplantation, or other therapies. In the setting of very low blood counts, support with red blood cell and platelet transfusions, and antibiotics or growth factors to prevent infection, may be required. New treatment options are urgently needed to improve outcomes.

Why do we need a registry?

The National Strategic Action Plan for Rare Diseases acknowledges the key role that registries play in linking people living with a rare disease with clinical trials. Conducting clinical trials for rare conditions is difficult, and registries play very important roles in collecting and analysing data to understand the clinical journey, treatment provided, and long-term outcomes for people with rare diseases, including AA and BMFS. They can provide a national and international network within which to work together to share information, identify variation in clinical practice, and improve care delivery. Registries can also serve as important research infrastructure for clinical trials and biobanks, as described below.

What is the AAR?

The AAR is managed by Monash University as a collaboration with more than 40 participating centres around Australia, and is exploring the potential to expand to New Zealand sites. The registry is part-funded by Maddie Riewoldt’s Vision, a charitable foundation (click here for more information).

The aims of the AAR are to:

• Better define the incidence of AA and IBMFS in Australia
• Provide information on the range of diagnoses and of treatment strategies being employed
• Explore factors influencing clinical outcomes
• Better define optimal clinical management
• Inform and inspire future research in this area

The AAR is a member of the National Alliance of Rare Disease Registries. More than 250 participants, both adults and children, are already registered. Participation is voluntary, and the research is observational only – it does not change a person’s clinical care or treatment in any way. Participants can leave the registry at any time without affecting their treatment or care. Data are collected through routine clinical visits and do not require the collection of any extra non-clinical information; the data are held securely and only used for ethics committee-approved research.

More information is available at: aaregistry.org.au

The AAR is also conducting the DIAAMOND clinical trial for people with severe AA to find out if a new therapy increases blood cell production and reduces the need for blood transfusions and other supportive care, including hospital admissions. This study is funded by the Medical Research Future Fund (MRFF). More information is available here: aaregistry.org.au/clinical-trials

The AAR, in collaboration with Biobanking Victoria has also recently been awarded funding from Maddie Riewoldt’s Vision to support the Australian Marrow Failure Biobank, which will be a new national resource to support research in this important field.

Why get involved?

The benefit of participating in the AAR is to help researchers learn more about AA and IBMFS in Australia. Currently there are almost no Australian data on how many people are living with these conditions, their treatment, or clinical outcomes. Information from the registry is an invaluable resource to understand current practice and to support research to discover new treatment options which may improve outcomes.

The research may also enable improved management that could benefit some participants now, as well as future patients with AA and IBMFS.

Thanks to everyone who is already supporting the AAR!

If you’re living with AA or IBMFS and are interested in getting involved, please speak to your treating clinician. You can contact the registry directly by phone on 1800 811 326 or at [email protected].

Rare Voices Australia (RVA) is excited to be a member of the consortium, led by the University of New South Wales (UNSW), that was a recipient of the Australian Government’s Rare Disease – Support, Education and Training Grant. Click here to read the Government’s media release.

The $1.9 million in funding will transform Australia into a global leader in the provision of rare disease awareness, education, support and training via the RArEST (Rare Awareness, Education, Support and Training) Project. Click here to read UNSW’s media release about the announcement.

Congratulations to RVA Partner, Childhood Dementia Initiative, for being awarded $185,000 for the National Childhood Dementia Awareness, Support and Education Project.

We also congratulate the Australian National University for receiving $198,000 for work on a project that will develop a diagnostic reasoning tool to support recognition of rare diseases with different presentations, based on three indicative diseases – myositis, primary immunodeficiency disorder and sarcoidosis.

This Government funding will contribute to the implementation of the National Strategic Action Plan for Rare Diseases across all three Pillars (Awareness and Education; Care and Support; and Research and Data).

Funding of $1 million had already been provided for the development of the Rare Awareness Rare Education (R.A.R.E) Portal. This multi-purpose website will include information and resources for rare diseases that are customised for the Australian context. Click here to read more.

RVA thanks the Australian Government and the Hon Greg Hunt MP for their ongoing support of people living with a rare disease.

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Rare Voices Australia (RVA) welcomes the Federal Government’s announcement that National Disability Insurance Scheme (NDIS) independent assessments will not proceed following the Disability Reform Ministers’ Meeting. We also welcome all state and territory ministers agreeing to “work in partnership with those with lived disability experience on the design of a person-centred model.” Read Senator the Hon Linda Reynolds’ CSC, Minister for the NDIS, media release in full.

We thank Senator Reynolds’ office for meeting with RVA recently in Canberra and for listening to our thoughts about the NDIS and our concerns about independent assessments.

In our submission to the Joint Standing Committee on the NDIS Parliamentary Inquiry into Independent Assessments, RVA stated that we do not “support changes that use a ‘one size fits all’ approach and are not person-centric. We do not support changes that make the process less transparent, and that cannot be reviewed or challenged by individuals and their families. We therefore do not support the use of independent assessments for rare disease candidates.” RVA also lodged a submission into the National Disability Insurance Agency’s (NDIA) public consultation: access and eligibility policy with independent assessments.

RVA looks forward to continuing our ongoing discussions with Senator Reynolds and the NDIA to ensure that the voice of people living with a rare disease and their families and carers, continues to be heard.