Category: RVA News

Rare Voices Australia is advocating for people living with a rare disease to have equal access to safe, effective treatments and healthcare management in a coordinated and adequately resourced approach throughout the country.

The Fair for Rare Campaign enables people living with a rare disease to share their journey of living with their particular rare disease and to highlight the opportunities for us as a country to do better, and give them a ‘fair go’.

The Fair for Rare campaign aims to generate greater awareness for rare diseases in Australia and strengthen the common voice of people living with a rare disease. Fair for Rare will address rare diseases as a national challenge and promote as a national public health priority.

We know that the rare disease community extends beyond that of the patient and it is this groundswell support that is needed to achieve change; to achieve Fair for Rare’

The campaign is being steered by an enthusiastic and committed Working Group who have already done much work on refining the campaign logo and campaign activities. The rare disease community will be encouraged to participate in the Fair for Rare campaign – in a range of ways eg social media, Fair for Rare events, lobbying politicians. There will be many ways you can be involved – stay tuned!

Titled ‘Game Changers in Rare Diseases Delivering 21st Century healthcare to rare disease patients: Together we can change the future!’, the three day conference organised by EURORDIS and Develop Innovate Advance (DIA) was held at the Edinburgh Internatinial Convention Centre.

The program did not disappoint with so many topics, all concerning rare diseases.

There were over 760 attendees from over 40 countries at the event. The conference was attended by a variety of rare disease stakeholders with excellent attendance from the rare disease community. It addressed a range of topics looking at current experiences and exploring various perspectives and reviewing new challenges.

The very full program was preceded by pre-conference tutorials and the second Rare Disease International Meeting.

The conference was opened by co-organisers EURORDIS President; Terkel Anderson, Denmark and DIA Associate Director; and Tamara Kohler. The keynote addresses were delivered by Minister for Mental Health; Maureen Watt (Scottish Government UK) and Alastair Kent; Director, Genetic Alliance UK / RDUK. Alastair gave a brief history lesson reflecting on where we have come since virtually time began until our present day where whole genomes are sequenced for around $1000.

A highlight was the Young Patient Advocates Panel Discussion chaired by Bruno Sepodes, Chair COMP, Prof, University of Lisbon, Portugal. Participants shared unique and personal perspectives about the future of patient advocacy and how young people are creating change in the field of rare diseases.

We were spoilt for choice with six themes that ran concurrently and all very interesting. The themes were:  

Game Changers in Research

The speakers of this theme spoke extensively on the move from research to diagnosis of new technologies with the patient at the centre of new developments. Topics were around the interplay between public and private funding streams for research, and on some of the breakthroughs which have impacted on patient care, some of which have been enabled by innovative funding models. The discussion also covered research in the delivery of new therapies to patients and how this can be enabled in a sustainable manner.

Game Changers in Diagnosis  

For patients, families and carers getting a diagnosis is fundamental to their understanding of the situation they find themselves in. A diagnosis helps to open up potential pathways and answer questions about what has happened to them or my child or my family as well as what may happen in the future. How can I contribute or partner in research? It was an excellent discussion with many perspectives raised by both clinicians, researchers, patient organisations and patients.

Game Changers in Drug Development and Authorisation: Medicines and Adaptive Pathways 

In this theme, the speakers, made up of the European Medicines Agency (EMA), COMP Patient Representative, Global HTA & Patient Access look at how drug development, authorisation and access is no longer a linear path but more a cycle of gathering data and evidence and reviewing as a co-current process. What are the new challenges? How can medicines be accessed earlier? How can this risk be shared amongst stakeholders? How can patient communities better understand the process? Building collaborations and how can we smooth the path from research through to real treatments with real access to real patients.

Game Changers in Care Provision 

This theme looked at how even though we’re living in the ‘connected generation’, surprisingly, expertise in the rare disease field remains isolated and often siloed. The game changer here is bringing together the rare disease networks. Drawing on expertise from across Europe, speakers shared case studies to show what the true potential is in connecting isolated experts and sharing knowledge and information. Also looking at how this is an opportunity for care and how it will change in local hospitals from the creation of European Reference Networks. Simply by enabling centres to share their knowledge and practices, which becomes an opportunity for driving improvements for all. 

Game Changers in Social Policy  

In this theme, the speakers delved both into the current policy scenario as well as into innovative care solutions which are being experimented throughout Europe.

Game Changers in Global Society  

The presentations in this theme drove home the message that rare diseases are truly global, which can greatly accelerate knowledge, public awareness, and drug discovery and development in addition to connecting people. Social media experts shared their knowledge on how to use the internet efficiently. The sessions came out with the message that rare diseases are an international public health priority and a collaborative effort is required to bring this fact to the forefront.

The closing plenary enabled all the Chairs of the six themes to gather and give an overview and report on their sessions.

Although the focus of the meeting was very much about Europe, there was a lot of information that could be applied to our setting in Australia. It was pleasing to see an international focus and other countries featured in the program. There were some Aussies amongst the attendees including Nettie Burke (Cystic Fibrosis Federation), Gareth Baynam (Genetic Services WA), Hugh Dawkins (OPHG WA Health) and Kiwis John Forman (RVA/ICORD), and NZORD’s new CEO Letitia O’Dwyer.

The board of Rare Voices Australia is pleased to announce that Nicole Millis has been appointed to the role of Executive Officer for RVA, and has taken up her appointment this week. This follows a period of  nine months where Nicole held a position on the board of RVA and impressed us with her strong contribution.

Nicole, qualified in social work, has both professional and personal experience of rare disease. Nicole spent the last three years as the National Manager of the MPS and Related Diseases Society of Australia, and in that role had significant experience responding to a range of patient and family support enquiries and clinical care issues. She is also an experienced advocate for an improved orphan drug access system. Nicole has a strong personal connection to rare disease, with her son having MPSII or Hunter Syndrome. RVA is delighted to have Nicole take on this central leadership position with RVA. She will work part-time from her Melbourne base.

The new RVA team will soon include a new administration officer once recruitment is completed and will also retain the invaluable services of former Executive Director Megan Fookes who has moved to a part-time role focusing on policy and stakeholder relations. The board is very pleased to accommodate the change in work commitments that Megan wished to make while retaining her experience and enthusiasm for our mission.

The Forgotten Ones photographic exhibition was launched on Tuesday 1st March at Melbourne’s Forty Five Downstairs Gallery, by Sara James, Emmy Award-winning foreign correspondent, journalist, author and commentator.

Sara’s opening speech captured the hearts of approximately 150 attendees on the night, who could relate to Sara’s personal account of her experience of having a daughter who has a rare disease.  The evening generated much interest, compassion and a deeper awareness of the issues that families face when living with a rare disease.

The photographic exhibition captured portraits of young Australian individuals who have a sibling with a rare disease.   Produced in conjunction with Rare Voices Australia, the week-long exhibition aimed to celebrate and recognise the unspoken and often forgotten support that siblings provide to loved ones suffering.

Artist, Alexandrena Parker herself was born with a rare life threatening disease, Cystic Fibrosis.

Melissa Parke MP delivered a speech in Parliament on International Rare Disease Day (29th February 2016) on the need for priority focus for a Rare Diseases Policy. Read the speech below.

Ms Parke (4:09pm) — Today is international Rare Disease Day. In its ninth year, the theme and focus for 2016 is: ‘Patient voice’—recognising the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

While rare diseases affect a considerable proportion of the population in aggregate, with nearly 7,000 rare diseases identified, it remains a relatively unknown health issue.

Last Wednesday, I had the pleasure of attending a barbecue hosted by Rare Voices Australia, where Professor Ravi Savarirayan of the Murdoch Children’s Research Institute, an international expert on rare genetic conditions, emphasised that rare diseases are in fact not all that rare. Conservative estimates indicate that six to eight per cent of Australians are affected by a rare disease. We heard from Samantha Prior, as well as Samantha Cosgrove and Tracey Nelson, the mothers of ‘cowboys’, Beau and Kalten, who have the ultrarare genetic condition Morquio A. It is clear that medical advances are assisting to improve their children’s futures.

While 80 per cent of rare diseases are genetic, the diagnosis of a rare disease is often delayed due to the complex nature of these rare diseases. As I have said in this place before, this should be a public health policy priority at both national and international levels. Building and improving access and the sharing of resources will encourage the development of policies, service planning, clinical guidelines and research, which will in turn improve diagnosis, appropriate care and treatment for thousands of Australians. I thank Rare Voices Australia for the important work they do and urge all members to show their support for people impacted by rare diseases.

Megan Fookes, co-founder of Rare Voices Australia was overwhelmed when she heard the news of receiving the Medal of the Order (OAM) on Australia Day. Megan has dedicated the award to her late father (who lived with the rare disease called Fabry Disease), and to all adults, children and families who are doing their very best living with rare diseases.

Megan has been working in the rare disease sector since 1999, has a personal connection with rare disease, and cares for her child who lives with the same condition.  Megan served on the Board of Fabry International Network (FIN), and continues to volunteer as Director at Fabry Australia.

Megan would like to thank the many people who have personally congratulated her.

“Thank you for all the beautiful messages, emails and texts sent upon receiving my OAM. I feel quite overwhelmed. It has been such a privilege to serve in the rare disease space and not without its challenges. Advocacy/not for profit is a ‘hard gig’! As many know this is an area that is very close to my heart and my family. I would like to dedicate this award to my late father who lived with a rare disease called – Fabry Disease. I also dedicate it to all the folk (adults and children) and their families who are doing their very best living with rare diseases. RVA (Rare Voices Australia) aims to unify all these voices so that they can be heard by the leaders and politicians of our country. Wouldn’t it be great if Australia was to adopt a policy that could ensure a clear pathway to access first class health services, care and treatments without delay or obstacle? Wouldn’t it be great if Australia could have a National Strategy for rare diseases and adequate funding for health professionals to care and provide appropriate services to folk living with rare diseases? I do believe that this can happen if folk living with a rare disease make it happen. Thank you for all your support. Megan Fookes (OAM) x”

In its eighth year, the ECRD brings together over 80 speakers and more than 800 participants, covering six themes over two days, including the latest research, new treatments, innovations in healthcare and more.

The focus in 2016 is on Game Changers in Rare Diseases. Rare Voices Australia is an official Associate Partner for ECRD. The call for poster abstracts is now open and will close on 31 January 2016. Further information can be located at the official website here.

RVA is advocating and presenting the rare disease health consumer perspective in a range of areas currently being reviewed by the Federal Government primarily in the health sector.

RVA has completed submissions to the following reviews and issues papers in response to Australian Government consultation process:

1. Life Saving Drugs Program Review
2. Review of Independent Medical Research Institutes – Issues Paper
3. TGA Orphan Drugs Program Discussion Paper
4. Review of Medicines and Medical Devices Regulation
5. Unapproved Products Forum
6. Medical Research Future Fund Senate Inquiry
7. Medicare Benefits Schedule Review
8. Review of Medicines and Medical Devices
9. Inquiry into Chronic Disease Prevention and Management in Primary Health Care
10. PBAC Guidelines Review

It is pleasing to note that Rare Voices Australia is recognised and respected by the Australian Federal Government as a National peak body for rare disease. RVA gives a voice to the Australian rare disease community and providing input in major policy change allowing for rare diseases to unofficially be noted in many policy areas. Long term RVA is advocating that a rare disease policy is formally adopted and a National Strategy is endorsed and implemented. It is pleasing to note this is now achieved at a State level in Western Australia but wouldn’t it be great to have this adopted by all other States and Territories and ultimately at a National level.

The theme for the Partners in Patient Health Asia Pacific Forum 2015 was ‘Working Together With One Voice’. This is is the second event, which aimed to convene leading patient groups and their leaders within the Asia and Pacific region to meet, connect, exchange and learn from each other.

Over 40 groups from 12 countries attended the two day conference. There was representation from Japan, Korea, Greater China, Vietnam, Hong Kong, Thailand, Australia (RVA) through to the ASEAN. Highlights of the forum included the panel sessions covering topics such as:

• Collaboration with other patient groups across disease or geographies.
• Engage partners of patient groups such as prescribers, nurses, hospitals, NGOs or local governments.
• Tackle the burden of NCD (Non-communicable Disease).

RVA was pleased to meet many leaders from rare disease patient organisations within the Asia Pacific region, meeting old and new friends and to understand the challenges all the countries encounter, recognising opportunities to learn from one another and how we can further support one another.

RVA’s Megan Fookes represented RVA on one of the panel sessions and was invited to facilitate a table discussion. On 16th October, Rainbows Across Borders (Asia’s first patient group alliance) invited Megan as invited speaker to RVA’s journey so far and advocacy work in rare disease in Australia at their event, ‘Working in One Voice’. The event brought together patients, medical social workers, patient support organisations, physicians, medical professionals and pharmaceutical industry to share their views on the landscape of chronic illness and rare disease in the region.

On 29 February 2016, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.

The Rare Disease Day 2016 theme ‘Patient Voice’ recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases.

Rare Voices Australia will be uploading all the events and activities associated with Rare Disease Day on the official Rare Disease Day website.

Please note the 2016 Rare Disease Day website will be launched 21st November (European time).