WHO IS INVOLVED

Australian organisations participating in Rare Disease Day include:

Click on the organisation you are interested in to link through to further information on them and their Rare Disease Day activity

If your organisation in Australia is participating in a World Rare Disease Day activity and you would like to be added to the list – click here

Association of Genetic Support of Australasia (AGSA)

AGSA supports those affected directly or indirectly by rare diseases. We offer a range of support options such as seminars, sibling workshops, telegroupcounselling and family days to facilitate contact with others. AGSA is recognised as a peak body in patient support and collaborates with similar organisations nationally and internationally, AGSA is currently the Acting President of the International Genetic Alliance representing 16 countries around the world.

AGSA have a rare disease register representing over 1200 rare conditions to facilitate contact with others with the same or similar condition. They also have contact information for active support groups. If you would like more information, please visit the AGSA website at:  www.agsa-geneticsupport.org.au

Contact person, phone number and email address for media enquiries:

Dianne Petrie OAM, Director
email: info@agsa-geneticsupport.org.au or phone: +61 2 9211-1462

Association for the Wellbeing of Children in Healthcare

To advance the wellbeing of children and young people in healthcare

AWCH is a national, non-profit organisation of parents, professionals and community members who work together to ensure the emotional and social needs of children, adolescents and their families are recognised and met within hospitals and the health care system in Australia.

Based at Gladesville Hospital in Sydney, the AWCH Paediatric Support Link Service (PSL) is a national service supporting families in caring for a sick or chronically, ill child. AWCH PSL offers families, particularly with children who have a rare condition, a way of sharing common issues, experiences and problems and is made up of people who may offer each other emotional and practical support. AWCH PSL reduces isolation and offers encouragement and support.

Contact person, phone number and email address for media enquiries:

Anne Cutler, Program Manager; 0438 429 643; awch@awch.com.au ; www.awch.org.au

Australian Paediatric Surveillance Unit

To improve the health and wellbeing of children affected by rare diseases by generating research evidence to support development of health policy, educational resources for health professionals and community awareness campaigns.
funny games
juegos friv
juegosfriv

The APSU is affiliated with the Division of Paediatrics and Child Health, Royal Australasian College of Physicians and the University of Sydney and is a founding member of the International Network of Paediatric Surveillance Units (www.inopsu.com ). APSU is  supported by the Australian Department of Health and Ageing and the National Health and Medical Research Council (Enabling grant No: 402784 and Practitioner Fellowships (EE) Nos: 457084 and 1021480) and the Australian Research Council (LP110200277)

APSU has partnered with the Steve Waugh Foundation, The Smile Foundation, Association of Genetic Supports Australasia and the Sydney Children’s Hospitals Network (Randwick and Westmead) to research the impacts of rare diseases on families, health professionals and on health services[EE1].

On March 14 and 15, APSU will host a workshop for Rare Disease Day 2014. Check out the events page for more information.

Contact person, phone number and email address for media enquiries:

Prof Elizabeth Elliott (Director). Phone: 0409 253 390; elizabeth.elliott@health.nsw.gov.au

A/Prof Yvonne Zurynski. Phone: 0411 987 976; yvonne.zurynski@health.nsw.gov.au

www.apsu.org.au; www.inopsu.com

Bladder, Exstrophy, Epispadias, CloacalExstrophy, Hypospadias Australian Community

BEECH LOGO FINAL HIRES RGBBEECHAC represents adults and children and their families who have life experience of one or more of a spectrum of rare congenital disorders.

BEECHAC’s mission is to work towards improving access to highquality, supportive and holistic care for people living with BEECH conditions throughout a lifetime, and to develop a support network for individuals and families impacted by BEECH conditions to enable healthier, stronger futures.

Our vision is to bring people together – that through shared experience and a sense of community we can find support, exchange information, learn from each other, gain recognition and understanding, and build friendships and connections that enhance quality of life.

To celebrate Rare Disease Day 2014, Beech organises A Rare Night out Ball. Check out the events page for more information.

Contact person, phone number and email address for media enquiries:

Imogen Yang.

Phone: 0415 102 984;

Email: imogenyang@beechac.org

Web: www.beechac.org

Fabry Support Group Australia

FSGA provides support to those affected directly or indirectly by Fabry disease throughout Australia and New Zealand. It currently supports more than 160 families. FSGA aims to increase recognition, awareness and understanding ofFabry disease, its effects and potential solutions.

FSGA acts on behalf of the Australian Fabry community in discussions with treatment centres, doctors, pharmaceutical companies and Australian government departments inrelation to issues surrounding treatments of Fabry Disease in Australia. FSGA is also a member of another important organisation, Fabry International Network, (FIN) which is a global, independent network of Fabry patient associations whose purpose is to collaborate, communicate, and promote best practice to support those affected by Fabry Disease

Contact person, phone number and email address for media enquiries:

Megan Fookes, President FSGA. Email: megan.fookes@fabry.com.au

Web: www.fabry.com.au

NSW Health’s Centre for Genetics Education

The Centre for Genetics Education is dedicated to providing current and relevant genetics information to individuals and family members affected by genetic conditions and the professionals who work with them.

Based at Royal North Shore Hospital in Sydney, the Centre’s research and educational activities aim to bring genetics information to the widest audience possible

Contact person, phone number and email address for media enquiries:

A/Prof Kristine Barlow-Stewart PhD, FHGSA (Genetic Counselling)
Director The Centre for Genetics Education Royal North Shore Hospital
St Leonards, Sydney NSW 2065 Australia.
Ph: +61-2.9462-9599. Fax: +61-2.9906-7529
Mobile: 0417 487 028
www.genetics.edu.au
email 1: kristine.barlowstewart@sydney.edu.au
email 2: kbarlow@nsccahs.health.nsw.gov.au

Rare Voices Australia

Logo Rare Voices AustraliaRVA is Australia’s national organisation advocating for those who live with a rare disease. RVA provides a strong common voice to promote for health policy and a healthcare system that works for those with rare diseases. RVA works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare diseases in Australia. RVA are the unified voice of 1.2 million plus people affected by rare diseases through Australia (6-8% of the population) and 70 million globally.

Contact person, phone number and email address for media enquiries:

www.rarevoices.org.au
email: admin@rarevoices.com.au
Ph: +61 2 9967 5884

SMILE Foundation


To enhance the quality of life of children with a rare disease by: Providing responsive financial and practical assistance for families/carers; facilitating access to information and resources; promoting research; and advocating and building awareness.

 

Contact person, phone number and email address for media enquiries:

Evie Smith, Director, Community Relations. Phone: 02-94094860, 0435 103 072 esmith@smilefoundation.com.au  – www.smilefoundation.com.au

VCFS 22q11 Foundation

The VCFS and 22q11 Foundation are a group that consists of individuals with VCFS, parents, grandparents, siblings and carers of individuals with VCFS and professionals.

The VCFS 22q11 Foundation aims to; raise awareness of VCFS; provide information and support to families affected by the deletion and to provide a contact register enabling families of children with similar symptoms to contact each other; diseminate information and provide support to individuals with VCFS and their families/carers; Promote and support education programs and the development of new programs that will enhance the intellectual and social development of individuals with VCFS which will enable them to achieve their maximum potential in the community; and provide information via a quarterly magazine to all members of the foundation

Contact person, phone number and email address for media enquiries:

Maria Kamper, President, VCFS 22q11 Foundation www.vcfsfa.org.au

The Steve Waugh Foundation

‘The families affected by rare diseases are medically disenfranchised population that fall through the cracks of every health care system in the world.’ Abbey S. Meyers, PresidentNational Organisation for Rare Illnesses. (NORD, USA)

The Steve Waugh Foundation is taking on the challenge of improving the lives of children and families affected by a rare disease.  Our focus is ‘a commitment to a coordinated approach to the service, identification, treatment and research of rare diseases and illnesses primarily focusing on children (0-25 years)’.

The rare disease patient is the orphan of the health system, often without diagnosis, without treatment, without research and therefore, without reason to hope. The Steve Waugh Foundation is working to help change things for children with a rare disease by giving hope, providing medicine, equipment and treatment, supporting education and research, partnering with other like agencies and organisations as well as supporting specific projects and programs.

We invite you to join the Steve Waugh Foundation to give our children with a rare disease

and their families ‘somewhere to turn’

 What is happening on Rare Disease Day:

The Steve Waugh Foundation is proud to take the leadership role in sponsoring a coordinated approach to the promotion of World Rare Disease Day Australia through; the development and funding of the Rare Disease Day Australia website; media, marketing and promotional tools.

The Steve Waugh Foundation thank with appreciation a ‘rare’ champion, Mr Basil Sellers who has committed major funds to help the Foundation sponsor this coordinated effort for Rare Disease Day Australia promotion and activities.

Contact person, phone number and email address for media enquiries:

Trish van Leeuwen. Chief Marketing & Philanthropy Officer

Phone: 1300 889 935

tvanleeuwen@stevewaughfoundation.com.au or info@stevewaughfoundation.com.au

www.stevewaughfoundation.com.au