Welcome to the latest edition of the GSNV E-news bulletin Bits and Pieces. Following on from Rare Disease Day which was a great success, the GSNV will be using feedback provided to us to develop a bigger and even better event for 2015. We are working towards making Rare Disease Day next year a full campus event which will engage the Royal Children’s Hospital (RCH), the Murdoch Childrens Research Institute (MCRI) and the Victorian Clinical Genetics Services (VCGS) as event partners.
In the coming weeks we will be providing information on an important national survey which may inform submissions to Government on a rare disease national plan for Australia. The GSNV encourages its members to look out for the survey and consider giving their feedback. We note this survey is different to the one currently on the homepage of the GSNV website.
JDRF will host annual Gala Balls across Australia providing a unique opportunity for guests to support type 1 diabetes. The Gala Balls are a great reminder of JDRF's mission: to find a cure for type 1 diabetes and its complications through research.
Amongst all the glamour and fun of the elegant black tie events, guests hear the latest JDRF research news, are entertained with live music and have the opportunity to make generous donations through auction items, raffles, and our Fund-a-Cure appeal.
Gala Balls will be held in NSW, QLD, WA and for the first time in VIC in 2014. The Victorian ball will be on May 3rd 2014. View the invitation and purchase your tickets below by clicking the link below. Also stay tuned for more information to come about the Walk for a Cure in October.
In celebration of World Primary Immunodeficiency Week on April 22nd -29th 2014, Immune Deficiencies Foundation Australia (IDFA) is having their first ever fundraising event! See the flyer below and have a look at their website for further details.
Young Victorians Challenge Perceptions of Disability
The project has been developed to promote the stories of nine young people with disabilities, from diverse backgrounds, who have successfully participated in community life as a result of innovative practices and projects in the G21 region.
Eight digital videos communicate their stories, complimented by A3 posters highlighting key elements of each story.
Each 2-3 minute vignette showcases how, with a small amount of ‘thinking outside the box’, the lives of so many young people living with a disability can be improved.
To read their stories and see the videos click here.
Rare disease research
A new international collaboration called PhenomeCentral will see scientists and clinicians worldwide share information in a bid to speed the discovery of genes responsible for rare disorders.
Thank you for joining together and raising hands for Rare Disease Day 2014!
The Genetic Support Network of Victoria (GSNV) invited professionals, individuals and families to celebrate Rare Disease Day on Friday 28th February and encourage community awareness around this important day. The seminar's theme was "the psychosocial impact of rare diseases: exploring feelings of responsibility and feelings of isolation". The event was a great success!
With over 50 attendees comprising a mix of campus staff, support group leaders and individuals living with rare conditions, it was a terrific opportunity to bring together all those in the rare disease community. Rare Disease Day raises the awareness of rare diseases and importantly focuses on the profound impact on people affected personally, their families and carers. Two personal stories presented by Nicole Millis (MPS Society of Australia) and Mandy Jacobs (NPC Foundation of Australia) provided some insight on the experience during diagnosis and life thereafter for families such as theirs, in the rare disease community. Further presentations from Dr Sue White and Flora Pearce explored the clinical perspective of ‘a heightened sense of responsibility regarding the genetic aspects of a diagnosis and feelings of isolation.’
The take home message from the presentations was that parental reactions and coping mechanisms around a new diagnosis vary greatly, but aspects such as a person’s culture, lived experience, beliefs and knowledge along with their resilience and ability to adapt influences their journey over all.
The GSNV was pleased to see attendees 'raise their hands' in support of rare disease patients around the world. In a symbolic gesture, attendees had an opportunity to add their hand to a patchwork of hands, in colour creating a collage of joining hands. This very simple exercise indicated that both professionals and individuals impacted by rare diseases are driven to join together in finding effective cures and treatment, therefore embracing the international Rare Disease Day goal of ‘joining together for better care.’
YOU can support better care for Australians living with a rare disease by signing the Rare Disease pledge form. By signing you help us to raise the awareness amongst the general public and decision makers about rare diseases and the impact they have on those affected personally and their families. The campaign continues well after the 28th February every year and the GSNV continues to follow developments on behalf of all Victorians and Australians living with rare disease.
This year’s celebrations were a true partnership, with great support from MCRI. The GSNV thanks all who supported Rare Disease Day.
The GSNV works hard to connect individuals and families interested in sharing their experiences and insights with others. People interested in contacting others “in the same boat” can contact the GSNV to provide details and we will assist in making connections.
SMMCI - solitary median maxillary central incisor syndrome
Usher Syndrome Type 1
If you would like to make contact with others in the same boat and share your experiences with the above conditions, please either contact the GSNV office by phoning (03) 8341 6315 or by emailing firstname.lastname@example.org.
For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au
We are committed to your privacy
No details will be published without your consent, and those that are published will not include personal contact details. We will obtain consent from both parties before connecting individuals and families.
Disclaimer The GSNV works to support contact between individuals and families to share experiences. However, in individual cases, there may be differences in approach and opinion. Those placed in contact are alone responsible for the views and opinion shared.
For more events please see our website, www.gnsv.org.au
About the GSNV
The Genetic Support Network Victoria (GSNV) is a vibrant and active organisation committed to promoting the interests and well-being of people affected by genetic conditions. We assist individuals and families with the 'human', non clinical side of genetic diagnosis, living with a genetic condition, and gaining access to supports and services. The GSNV assists in the set up of new support groups and for those already established, helps to broaden awareness and assist in their activities. The GSNV is committed to improving the sense of isolation the community may feel in dealing with genetic conditions.
The GSNV is closely associated with a wide range of support groups, clinical genetic services and peak professional bodies.
Keeping up to Date
Please continue to notify GSNV of your change of contact details either by calling the GSNV office, or via email to email@example.com. We have launched an exciting new website and database but are still finalising the upgrade. Please bear with us as we make the updates.
The information and material presented in Bits and Pieces is intended for educational/information purposes only. The contents express the opinions of the authors who alone are responsible for the views expressed. GSNV does accept any legal responsibility for their contents.