Rare Voices Australia: February 2018 e-News
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Morgan's Story 

Meet Morgan, whose story highlights the need for greater access to treatments. Many rare disease patients have trouble accessing the treatments they need. More flexible access to off-label medicines would be welcomed by many in the rare disease community. Read more

A Word from our Executive Officer

Hello all,

Wow, this month went by fast! Over the last month, RVA has been busy with the lead-up to Rare Disease Day (RDD) on 28 February and completing follow-up work to the Government’s announcement of the Life Saving Drugs Program Reform (LSDP).

In the lead-up to RDD, RVA supported RVA Partner Organisation, Metabolic Dietary Disorders Association (MDDA) at a special PKU lunch in Parliament House in Canberra. RVA is also partnering with Genetic and Rare Disease Network (GaRDN) and very much looking forward to speaking at their Rare Disease Day Symposium in Perth on the 28 February. I am also looking forward to speaking at the Sanofi-Genzyme Rare Disease Day Event in early March. (Rare Disease Day is too big to confine to one day!). A key aspect of Rare Disease Day is raising awareness and as well as promoting the official Rare Disease Day materials via social media, this year, RVA has developed our own Australian resources – a series of infographics based on our ‘Call for a National Rare Disease Framework: 6 Strategic Priorities.’  Thank you for sharing and liking these – together, we have a much stronger ‘rare disease’ voice.

Last month, I reported on the long-awaited release of the LSDP Review and Reform. The Government reform was very general and highlighted their intent to further consult with key stakeholders to develop procedural details. Conscious of the short timeframe, RVA decided to take an active role in this and immediately began a targeted consultation with a range of stakeholders, including the LSDP Review Patient Working Group - leaders of patient communities with medicines currently on the LSDP. Following this, RVA presented a proposal for LSDP Procedural Reform to both the Department of Health and the office of the Health Minister. Some of the aspects of this proposal included the need for greater transparency, a streamlined rather than duplicated system, increased and earlier involvement of the consumer perspective and the importance of rare disease expertise. RVA is encouraged by the overall positive response from both the Minister’s office and the Department of Health to our proposal and looks forward to continued work on this vital issue.  

In these discussions, RVA was also able to highlight the need to prioritise medicines currently going through the reimbursement process. We also spoke to the Wilson Report recommendation around the Centres of Excellence and urged the Minister to consider more urgently the need for investment into clinical infrastructure. We know many RD clinicians are at breaking point. Importantly, we were also able to confirm our commitment to improving access to treatment for all rare disease patients. We reminded the Minister that many rare disease medicines do not meet the 1:50,000 criteria and will still need to go through the PBS system, the criteria for which is inherently challenging for rare disease. RVA continues to call for improved access to treatments through the PBS as well as LSDP. 

Until next month…

Nicole Millis
Executive Officer
Rare Voices Australia
Participate in Rare Disease Registry Survey
The theme for Rare Disease Day on 28 February 2018 is Research, more specifically, recognising the crucial role that patients play in research. A key way in which patients contribute to research is their involvement in patient registries. Strong rare disease research relies on strong rare disease registries.  Following on from the momentum of the article 'Rare Disease Registries: a call to  action', Lacaze et al, Internal Medicine Journal 47 (2017), Rare Voices Australia (RVA) has continued to advocate for the development of an integrated rare disease registry strategy for Australia, as part of its broader Call for a National Rare Disease Framework: 6 Strategic Priorities
Through this focus on rare disease registries, RVA is beginning to develop a National Alliance of Rare Disease Registries to encourage collaboration, shared knowledge and best practice. The National Alliance of Rare Disease Registries has the potential to bring together existing rare disease registries across Australia; establish national rare disease registry standards to support interoperability and cohesion across registries; develop strategies for sustainability to maximise the utility of existing rare disease registries and support the development of new registries; and, develop standards and systems for data collection that are appropriate and sustainable for healthcare personnel.
As part of this work, RVA wants  to gain a better understanding of the current rare disease registry space.  We are asking Australian rare disease registry custodians to participate in the following SURVEY.  We anticipate this survey will take approximately 10 minutes. Thank you for your valuable time and input.
'A Hunger for Support' lunch at Parliament House

On 15 February at Parliament House in Canberra, RVA partnered with RVA Partner Organisation, Metabolic Dietary Disorders Association (MDDA) on ‘A Hunger for Support’ – a special lunch event to highlight the importance of supporting Australians living with the debilitating, rare genetic metabolic disorder – Phenylketonuria (PKU). Chair – Standing Committee on Health, Mr Trent Zimmermann MP and Deputy Chair –Standing Committee on Health, Mr Steve Georganas MP were pleased to co-host this lunch, with speakers including Dr Kaustuv Bhattacharya, Head of Genetic Metabolic Disorders Service, The Children’s Hospital at Westmead,  Nicole Millis, our Executive Officer,  Monique Cooper, President, MDDA and  Australians living with PKU, Taylah Shier and Bek Mills.

All of the politicians and other attendees learnt a lot about living with PKU at this special lunch. A display table showing the protein levels of everyday food was particularly eye-opening. It was encouraging for RVA to see so many politicians and policy makers support this rare disease event. Importantly, Health Minister Greg Hunt, attended and confirmed his continued commitment to the Australian rare disease community. We send a special thank you to Andrew Wilson for attending – the Chair of the PBAC. Congratulations to the MDDA who put on such a successful event and especially those that so bravely shared their personal rare disease stories. To read our Executive Officer’s speech click here. Picture: David Howe.

RVA Board of Directors Positions

RVA currently has vacancies for volunteer directors on our Board. Board meetings are held via teleconference every 2 months and involve 1 to 2 hours of pre-reading. We are looking for people with skills and capabilities that will help RVA improve the lives of Australians living with a rare disease. In particular, we are looking for people who have experience in fundraising, PR and marketing, financial management, governance, law or leadership of not-for-profit organisations. If you have a passion for this area and believe you have skills to offer, we would love to hear from you. More information is available here. 

If you’re interested, please provide a CV and complete this Expression of Interest form for Louise Healy and Raymond Saich (acting co-chairs of the Board) and email it to:

Rare Disease graphics to download


Please feel free to tag Rare Voices Australia when you're sharing these infographics.Call for a National Rare Disease Framework. The team at Rare Voices Australia have put together six infographics for you to download and share across your social media channels/website and so on, to help raise awareness about rare disease. Each infographic explores one of our six strategic priorities as part of RVA's.

Download the infographics here.

Sanofi Genzyme evening of discussion with members of Rare Disease community

Sanofi Genzyme is hosting an evening of discussion and interaction with members of the Rare Disease community in NSW. To view the flyer press here. To register and for more information, click here.

Rare Disease Day Symposium 2018 - WA Insights in Lights
RVA is very pleased to be participating in the Genetic & Rare Disease (GaRDN) symposium for Rare Disease Day Symposium - WA Insights in Lights. Held in Western Australia, the Symposium brings together a range of presenters who will talk about rare disease research from a patient, scientific and medical perspective. Nicole from RVA will be speaking about how the call for a National Rare Disease Framework will support patients. 
There is a nominal cost of $10 to attend the event and you can apply for support to attend. Click here for more information - please note that registrations close on Monday, 26 February at lunchtime (Perth time - AWST).

Following the Rare Disease Day Symposium, an evening event will be held to present the Rare Disease Day Awards for 2018. 
RVA congratulates Anita Chalmers OAM

Last month, founding member of the Myositis Association Australia, Anita Chalmers, was recognised as part of the Australia Day honours with an OAM for her volunteer work for Myositis, a rare and debilitating autoimmune disease. Once diagnosed with Polymyositis in 1999, her volunteer activities in the Myositis Association began and soon extended across Australia and internationally.  

When Anita was first diagnosed, there was no patient support group in Australia and little information about the disease. Anita is passionate about building awareness for Myositis and in 2003, started the Myositis Association - Australia support group, which now has 250 members. 

“This is a great honour and while I’m proud to be recognised, it’s not so much about me, it is about Myositis. We have battled to raise the awareness of this debilitating disease, so hopefully now we will be able to get it out in the media and hopefully let people know there is a support group out there and there is help,” Anita told the South Coast Register.

University of Western Australia Research project

Professor Nigel Laing and his multidisciplinary research team at the University of Western Australia are conducting a research project exploring the potential for implementation of a carrier screening program for severe lethal recessive diseases. As part of the project, they’re currently conducting a survey about preconception carrier screening and are aiming for input from as many WA-based clinicians, allied health workers, nurses, pharmacists and medical researchers/diagnosticians as possible.

If you’d like to participate, click through to the survey - the questionnaire should take roughly 15 minutes to complete. Your participation is very much appreciated and you can learn more about the research here. 

RVA Partner News

Undiagnosed Children’s Awareness Day

Syndromes Without a Name (SWAN) is hosting a community family fun day for Undiagnosed Children’s Awareness Day - see details via SWAN's website.

Zac's Play Day launches at the Melbourne Zoo

This week, RVA was pleased to join RVA Partner Organisation Spinal Muscular Atrophy Australia Inc. for the launch of Zac's Play Day at the Melbourne Zoo. What a fantastic initiative and gathering it was. You can take a look at pictures from the day here.

Zac's Play Day is a children's book about Spinal Muscular Atrophy (SMA). If you would like a copy for yourself or a school or kinder, please email

If your organisaton has an event coming up and would like it advertised in the Partner News, please email with the details.

Submit to RVA March edition of e-News

RVA encourages partner organisations and individuals to consider making a submission to a future RVA e-Newsletter. If you have a rare disease meeting, event or announcement to share via RVA enews, please submit it to: Please send a website link (preferable) or short paragraph with details such as; the title of event, date, cost, venue, details/ contacts. Submissions for March 2018 edition of RVA News is 7th March 2018.


Rare Voices Australia is a small but vibrant non-profit organisation that relies on the support of organisation partners and the community to be the unified voice of all Australians living with a rare disease. RVA has launched an online partnership capability that enables individuals and organisations to join our cause. Click here for more details.
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