Category: RVA News

A second and final newborn screening consultation workshop was held on 12 August 2015, to discuss the development of a national policy framework for newborn bloodspot screening. RVA attended alongside 39 stakeholders from across the country. Attendees included academics, clinicians, consumers, industry, laboratory scientists, pathologists, program managers, policy makers, and representatives of colleges and professional organisations. The purpose of the workshop was to bring together key stakeholders to discuss the policies contained in the policy framework, as well as the beneficiaries of screening and the potential harms and risks of NBS. All attendees have been notified that a copy of the final report from the day will be made available publicly on the project website.

A review of current international decision-making processes for newborn screening: lessons for Australia was released last week. This article was authored by NBSWG members Karla Lister, Selina Metternick-Jones (Secretariat), and Craig White (Chair), along with Prof Hugh Dawkins and Prof Tarun Weeramanthri of WA Health’s Public Health Division.

‘NBS has been operating successfully in Australia for almost 50 years. Recently, the development of new technologies and treatments has led to calls for the addition of new conditions to the screening programs. Internationally it is recognized by governments that national policies for newborn screening should support transparent and evidence-based decision-making, and promote consistency between states within a country. Australia is lagging behind the international community, and currently has no national policies or decision-making processes, agreed by government, to support its newborn screening programs. In contrast, New Zealand (NZ), the United Kingdom (UK) and the United States of America (US) have robust and transparent processes to assess conditions for screening, which have been developed by, and have pathways to, government. A review released last week provides detail on the current policy environment for newborn screening in Australia.’ 

Source: Metternick-Jones SC, Lister KJ, Dawkins HJ, White CA and Weeramanthri TS (2015). Review of current international decision-making processes for newborn screening: lessons for Australia. Front. Public Health 3:214. doi: 10.3389/fpubh.2015.00214

Rare Voices Australia launched the Parliamentary Friends of Rare Diseases in November 2014. RVA Patron, The Honorable Michael Kirby, welcomed Parliamentarians at a special bi-partisan event held at Parliament House Canberra. All Ministers and Senators are members of Parliamentary Friends of Rare Disease.

How can you help?

Have you ever told your local Federal MP about your personal connection with rare disease? Do they know you live in their electorate? It is time to share your story and introduce yourself. RVA has developed a few tools to assist you. Go to the RVA website, download a template letter, adapt and use and tell them why you would like to see Australia with rare diseases looked at as a National policy with their support.

Other tips

• Make an appointment to meet your local Federal MP.
• Hand deliver the letter you write.
• Tell them your story, tell them about RVA, tell them to join RVA’s Parliamentary Friends of Rare Disease.
• Share the Communique – Principles/ Objectives – National Rare Disease Plan.
• Ask them if you can keep them up to date from time to time.
• Build a relationship with your MP and ask them to help you.
• Tell them about Parliamentary Friends of Rare Diseases.

Why?

Until rare diseases are recognised as a national priority and have an official National Strategy adopted, rare diseases largely remain invisible. Internationally the united front amongst the rare disease community, uniting as a critical mass has resulted in positive change for people living with a rare disease.

Without a national approach to rare disease it is much harder for people living with a rare disease to receive direct access to safe, effective and appropriate information, educational resources, care, services (health, social, education) and treatment within Australia. It is also difficult to access research, clinical trials, collect data and information which in turn impacts researchers, health professionals and many others who care and support people living with a rare disease.

By sharing your story and raising awareness of the importance in adopting a National strategy for rare disease, we will be one step closer to making this ‘dream’ a reality. But will only get there by uniting and working together as a combined voice of big and little rare voices.

Other ways to help RVA help you

RVA needs you to help us so we can continue to help you. There are many ways you can support and help us. Go to the RVA website and take a look. Thank you in advance for your continued support. Together we are a ‘unified voice for ALL rare diseases’

Healthier Medicare

The Australian Government is inviting health consumers to contribute to the reform of the health system and delivering a Healthier Medicare. One of the priority areas is better supporting people with chronic and complex health conditions, including mental health conditions, through primary health care. There was a survey that has been announced alongside the release of a Discussion Paper by the Primary Health Care Advisory Group, to examine options for health reform and provide a report to the Australian Government in late 2015.

Source: Department of Health website

PBAC Guidelines Review

Pharmaceutical Benefit Advisory Committee (PBAC) Guidelines Review was announced by Dept of Health yesterday. The Items for inclusion in the PBAC Guidelines Review are now available on the PBS website. Interested stakeholders can provide views about the Items to be included in the Review in the form of a submission. Submissions will be accepted from Monday 17 August 2015 until 5pm Monday 31 August 2015. Information on how to make comments through a submission can be found on the PBAC Guidelines Review Public Consultation web page.

Source: Department of Health website

The RVA Rare Disease Summit presented a Draft Communique which is the key principles and objectives of a National Rare Disease Plan. RVA is calling for support from all Rare Disease Patient Organisations, Universities, Research Institutes, companies and stakeholders to show their formal endorsement by signing and featuring their group’s logo.Over 39 organisations from across the country have endorsed the Communique. To show your organisation’s support, please visit the RVA website and complete online. RVA and all organisations can use this Communique to advocate the Australian Government to adopt a National Strategy for people living with a rare disease.

RVA shares MDDA, PKU NSW and HCU’s encouragement by the recent public comment made by Federal Minister Sussan Ley stating they intend to take responsibility for the cessation of the IEM food grant and rectify the situation soon.

The Minister says she “has developed a greater appreciation of the complexities of managing an IEM low protein diet and what it means to the affected individuals”. This has led to ongoing discussions between the MDDA and the Minister’s office and the current situation is that a number of government departments are looking at different options to ensure that people with IEMs have access to medical foods. Once these have been reviewed and agreed a consultation process involving MDDA, ASIEM and other relevant stakeholders will take place.

RVA supports the organisations and their members advocating for Health Minister Sussan Ley to reverse its decision.

Source: Metabolic Dietary Disorders Association.

NEWS UPDATE:  31st July 2015

Government to continue Inborn Error of Metabolism Programme

Click here to read the latest media release by Hon Sussan Ley, MP

Over the past month Hon Minister Sussan Ley has been speaking with patients, parents, representatives and parliamentary colleagues about the Inborn Error of Metabolism programme.  Following these conversations and additional evidence that each metabolic condition is different and requires a strict special diet, Minister has decided that those patients on the Inborn Error of Metabolism programme should continue to have access to the government subsidy into the future.

Great news for people living with undiagnosed rare diseases in Victoria. Premier Daniel Andrews MP has provided $25 million to develop a state-wide genomic sequencing program, which will speed up the diagnosis and treatment of rare conditions and inherited diseases. This includes conditions such as epilepsy, leukaemia, cancers, childhood diseases and inherited neuropathies (disorders affecting the peripheral nervous system).

The funding for the Melbourne Genomics Health Alliance will see up to 2500 children and adults receive early diagnoses of their conditions, enabling them to receive treatment earlier and improve their health outcomes. It will also mean Victorians with hereditary diseases will have greater understanding about how their genetic condition might impact them and their families in the future.

Source; Premier of Victoria Media Release Statement

The Rare Voices Australia Board of Directors met for their annual Strategy Planning Day at the Board of Trustees meeting room in the Female Orphan School, University of Western Sydney, Parramatta Campus. The RVA Board are a very dedicated team of professionals whom many have a very personal connection with rare diseases. The Board was led by an independent facilitator revising and planning the RVA Strategy 2015-2018.The RVA Board has two new Board of Directors join recently; Ms Michelle Skinner and Dr Dominic Barnes.

The RVA Board meet by teleconference throughout the year progressing the work for RVA. Thank you to the RVA Board for their continued support and commitment to the Australian rare disease community. Congratulations to Board Chair; Vice Chancellor Barney Glover who has been appointed Chairman of Universities Australia.

Rare Voices Australia is advocating as its number one priority for Australia to adopt a National Rare Diseases Plan. Over the past two years extensive research and information has been gathered through national coordinating committees, international meetings, engagement with those from across the rare disease sector and detailed reviews of literature. This information was used to develop the Scoping paper on the need for a National Rare Diseases Plan as requested by the Australian Health Ministers Advisory Council (AHMAC) in 2011.

In 2014 Rare Voices Australia undertook a national Roadshow to progress a national plan for rare diseases. The Roadshow involved round table discussions with patient, healthcare, research, government and industry stakeholders, with sessions in Queensland, Victoria, South Australia, New South Wales and Western Australia. The discussions focussed on the need, barriers and drivers for coordinated action on rare diseases and for a National Plan.

The key findings from the Roadshow, which will be presented at the Rare Disease Summit, have determined the Summit focus and themes.
Four focus areas of the Rare Disease Summit include:

•      Current Initiatives to progress a National Plan for Rare Diseases
•      Data Collection and Use
•      Models of Health Care
•      Diagnostics, therapeutics, & Clinical Trials

Over two days, attendees of the Summit will listen to and engage with experts in these four focus areas of Rare Diseases.  Interested delegates will include Clinicians, Researchers, Industry Executives, Health System Planners, Health Policy makers, and Leaders of Patient Organisations.

Rare Voices Australia attended the public RightsTalk discussion – “Balancing the Scales of Justice” presented by Graeme Innes, Commissioner for Disabilities, at the Human Rights Commission, Sydney, Monday 16th June 2014.

Panel presenters included Mark Ierace SC – Senior Public Defender; Therese Sands – Executive Director of People with Disability; Denis Clifford AC – NSW Police and Jim Simpson – Senior Advocate for the NSW Council of Intellectual Disability.

Earlier this year the Commission released its report Equal before the law: towards disability justice strategies. The report focused on people with disabilities who need communication support or who have complex and multiple support needs and who have come in contact with the criminal justice system. Click here to read the report.

Graeme Innes says:

“Equality Before The Law is a basic tenet of human rights. But I have learned, both as an advocate and during my time as Australia’s Disability Discrimination Commissioner, that equality is not always available for Australians with disabilities in the criminal justice system. This report provides a snapshot of where that equality does not exist, highlights services and programs that improve equality before the law for people with disabilities, and sets some directions by which change may occur.”

Rhiannen Sugars wants people to know that February 28 is Rare Disease Day, a relatively new way of raising awareness of the many complex and mysterious medical conditions that each affect the lives of a small number of people.

A little under two years ago, the horse-mad, 24-year-old UC student was diagnosed with Ehlers-Danlos Syndrome (EDS), a connective tissue disorder with a long list of painful and debilitating symptoms including extremely loose joints, weakness and chronic fatigue.

Before that, all she and her family knew was that something was clearly wrong with her body, to the point where even walking was becoming difficult.

“When I was diagnosed a few years ago, my body was in crisis,” she says. “The condition had gone undiagnosed so it was basically out of control. For a while I was walking on crutches and I came very close to being in a wheelchair, because I was getting so unsteady on my feet it was getting dangerous.”

The diagnosis was a major turning point for Rhiannen that allowed her to start rebuilding the strength in her weak muscles and joints, and came from a stroke of luck that demonstrates how greater awareness helps people with rare conditions.

Her friend Dr Jacqui Desovski, in her final year of medicine at the time, saw a patient with EDS and noticed striking parallels with Rhiannen’s symptoms. Luckily, this happened just before she went to see geneticist Dr Mary-Lousie Freckman, who followed up the lead and confirmed it was indeed EDS, hypermobility type.

“In two years I’ve come a long way,” says Rhiannen. “It’s been a lot of hard work but each day you see improvements.”

After working on her strength through conventional physical therapy, she is now able to manage the condition herself. Fortunately, these days she can do that mainly by indulging her passion for horse riding. It’s an activity that gently exercises her muscles while her upper body is supported by the sturdy back of her mount, Chief, a resident of Forest Park Riding School in Curtin.

“Basically, horse riding is the reason I can still walk,” she says. “It’s really good that I can make [physical therapy] fun. When I’m working with Chief in the arena I’m not really doing physical therapy; I’m just riding. And even though I’m working a whole lot of muscles at once, it’s not as noticeable.”

Added together, there are more than 6000 rare conditions affecting about 10 per cent of any given population, according to Rare Disease Day organisers, amounting to more than 2.2 million Australians. This year’s theme is “Disorders without Borders”, which aims to foster international collaboration.