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Welcome to the February edition of the GSNV E-News ‘Bulletin Bits and Pieces’. This month’s edition focuses on an important international awareness and one particularly close to the heart of the GSNV community; Rare Disease Day (RDD). With only 9 days to go the GSNV is following Rare Disease Day activities cross the globe and preparing our own state based and local event designed to bring together health professionals, families and support group leaders to discuss ‘the impact of rare disease’ from a range of perspectives.
The 2014 theme for RDD is ‘joining together for better care’; with a particular focus on important aspects such as access and equity, collaboration, the development of excellence and national policy drivers to bring all stakeholders together and improve the delivery of services and outcomes for rare disease communities. The GSNV holds the position that a continuum of care supported by effective government policy, best practice and effective health models, research translation and efficient service delivery are the pillars of a rare disease approach. Australia is inching toward initiatives to build on a national approach and plan toward rare diseases and looks to our Western European, UK and international counterparts for an evidenced approach to RDD in this country. All stakeholders whether they be at the governmental, community, health professional, industry and service level in Australia have a duty of care to be on the same page and advocate for a national plan that intimately delivers better outcomes for those who need it most.
This edition of ‘Bits and Pieces’ is also studded with information on genetic testing and relevant research articles and updates. If you would wish to comment, provide feedback or tell us what you would like to see included in future bulletins we invite you to do so by emailing firstname.lastname@example.org
The GSNV Rare Disease event on Friday February 28 is open to all our members and community but RSVP’s are essential.
CFC International has a new brochure. You can view it online here.
Short Statured People of Australia (SSPA)
For your interest, the SSPA Victorian Branch will be hosting several exciting events in February and March. These events are open to SSPA members, short statured people, their families and friends.
The Annual Vic Branch Ocean Grove Weekend will be held on February 28th - March 2nd. The weekend will include fun activities for all ages as well as the 1st SSPA Victorian Branch Meeting for 2014.
SSPA will also host an afternoon tea get together on Sunday 23rd February for parents to be, parents, grandparents and carers of short statured children to share stories, experiences and concerns in a relaxed environment.
CHF urges Federal Government to assess universal access to quality health care.
CHF is urging a review of the Medicare funding model to ensure equity of access for all Australians, particularly those who need it most. You can read the Media Release here.
The GSNV supports consumer input in directing and implementing changes to policy. We encourage you to have your say by clicking on the CHF survey.
An emerging genetic testing technology is increasingly being used in both research and clinical practice. Whole genome sequencing (or whole exome sequencing) allows information from all or most of an indiviudal's DNA, not only a single gene of interest, to be examined at once. Follow the discussion of this new technology in the media:
In the latest issue of the NY Times, there is an exploration of the benefits as well as the potential downsides of genome sequencing. The New England Journal of Medicine also addresses the issues and ethics of obtaining a child's genetic information in this perspective.
In a recent article in The Conversation, there is an exploration of how genome sequencing can be useful in treating illness and preventing disease.
National Geographic have also published an article outlining how the genetic 'faults' that contribute to disease are discovered.
Preimplantation Genetic Diagnosis
The January issue of Clinical Laboratory News includes a great overview of preimplantation genetic diagnosis as well as an in-depth discussion of the associated ethical, social and legal issues.
Rare Voices Australia Upcoming Events
March 2014 Rare Voices Australia - Parliamentary Event for Rare Diseases Day
Thursday 6 March 2014
House of Representatives Courtyard, ACT
April 2014 Rare Voices Australia Roadshow - Victoria
Wednesday 30 April
Murdoch Childrens Research Institute
Royal Children's Hospital,
Flemington Road, Parkville, Victoria 3052 Australia Executive Meeting - 9.30am - 12.30pm Patient Organisation Leaders - 1.30pm - 4.30pm
Rare Disease Day (28th Feb) Events around Australia
Bathurst NSW - Rare Disease Day Cocktail Event
The VCFS 22q11 Foundation INC are hosting a cocktail event in Bathurst.
DATE: 28th February 2014 TIME: 6pm -9pm WHERE: The Flannery Centre, 341 Havannah Street Bathurst COST: FREE! Drinks and Canapés are provided RSVP: Maria Kamper; President VCFS 22q11 Foundation Donations: All donations received will contribute to the ongoing work of Rare Voices Australia Ltd. Phone: (02) 99675884
Brisbane QLD - Show that you Care for Rare
RVA is pleased to announce we will coming to Queensland for Rare Disease Day on Friday 28th February 2014. We would love to see as many of the rare disease community as possible attend this event. There will be presentations, attendance from the Department of Health Qld, Free lunch and refreshments and opportunity to meet other rare disease folk in Qld.
WHEN: Friday 28th February WHERE: Wesley Hospital Brisbane
451 Coronation Dr, Auchenflower QLD 4066 TIME: 12.00-1.30pm VENUE: Auditorium COST: FREE! Includes cut lunch and refreshments RSVP: email@example.com
Burnie TAS - Tasmania recognises World Rare Disease Day
Tasmania recognises World Rare Disease Day. The Rotary Club of Burnie, Tasmania are helping to recognise rare disease day by holding a BBQ. This event is open to everyone.
TIME: 4.00-8.00pm COST: Entry FREE! BBQ and cold drinks are available to purchase. DETAILS:http://www.run-to-live.com/ PURPOSE: Raise awareness of rare disease day and welcome Shane James at the completion of his effort aimed at raising awareness of the plight of rare disease sufferers. Shane is now running a marathon in Tasmania each day during February – 28 marathons and finishing on Feb 28. Phone: (03) 64323672
Sydney NSW - Name-A-Star for Sanfilippo
The Sanfilippo Children's Foundation are looking forward to recognising Rare Disease Day 2014.
We are holding a ceremony at the Sydney Observatory to name a star for our cause and all the children fighting Sanfilippo Syndrome. This in a symbolic way that recognises the uniqueness of rare disease and the criticality of collaboration amongst groups like ours around the world; we may be widely geographically dispersed, but we all look up at the same stars and have the same goal.
Like many organisations supporting families and individuals with rare and genetic conditons, BEECHAC is holding a special event in celebration of Rare Disease Day 2014. They would like to extend an invite to you to attend their inaugural Show of Hands Ball to be held on the night of Rare Disease Day, 28th of February 2014.
Dress: Glamour Cost: $200pp, Table of 10: $2000/$1800 for NFP Organisations
The night is sure to be a treat, with dinner and drinks, entertainment, a live band, dancing and guest appearances! So make sure you get in early and book you tickets ASAP! Tickets can be purchased from http://www.trybooking.com/DWUS Phone: 0414997667 Website: Website link facebook Visit us on Facebook
Children with disability
Provides a link between the direct experiences of children and young people with disability and their families to federal government and other key stakeholders. http://www.cda.org.au/
Association for Children with a Disability Inc
An information, support and advocacy organisation for children with a disability and their families in Victoria, Australia. acd.org.au
Association for Children with Disability (Tas)
A non profit organisation that provides information, advocacy and support for Tasmanian families of children with disability. acdtas.com.au
Provide services and support to families of children with disabilities and developmental delays, and support to Early Childhood Education and Care services. http://www.noahsarkinc.org.au/
Smart phone apps
Carers Victoria is promoting a new smart phone app to assist carers of individuals with dementia.The carer can push a button to find out the exact whereabouts of the care recipient's phone and set it up to send regular updates of location points.
Learn more about the app here.
NPS MedicineWise has launched a new app, MedicineList+, to help you keep track of your medications. This app will be particularly useful for individuals with chronic health conditions or those taking multiple medications. Learn more about the app here.
Become a GSNV Member
Anyone can become a member of the GSNV, and we'd love to have you on board too. Our current members include support groups, individuals and families affected by genetic conditions, health professionals, students, interested individuals and members of the community.
Membership entitles you to:
GSNV Newsletter and eNews
Genetic Support Coordinator - coordination of enquiries and support
And Post to:
Genetic Support Network of Victoria
The Royal Children's Hospital
Level 9 South Building
Parkville, Victoria 3052
Alternatively, Contact Us and we can discuss membership with you, post you a membership application form, or answer any questions.
How Much Does Membership Cost?
Although the GSNV called an amnesty to membership fees in 2012, membership fees have been reinstated as of October 2013. This money is pooled together and returned to our members by way of services provided.
$22 - Families & Individuals, Groups, Professionals and Service Providers
$11 - Student/Concession
Please fill in credit card details in the membership form, or address cheques to:Victorian Clinical Genetics Services
And Post to:
Genetic Support Network of Victoria
The Royal Children's Hospital
Level 9 South Building
Parkville, Victoria 3052
Please let us know if you require a tax invoice prior to payment issue.
Are you a parent or caregiver to a child with a neurogenetic condition such as 22q11.2 deletion syndrome, Prader-Willi syndrome, Down syndrome, an as yet undiagnosed syndrome or other neurogenetic syndromes? Following on from an earlier study, the University of Newcastle would like to further understand how your child has impacted your life and how you have coped. You can do this study even if you participated in the Disclosure study in 2012/2013. To read more, or complete the survey click the link below: www.wix.com/c3094005/geneticdisorders
For more information about this study, please click here
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
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.