Welcome to the latest edition of the GSNV E-News Bulletin - Bits and Pieces. We are now at the business end of 2013 and the GSNV team are currently reflecting on the previous financial year and preparing for an annual review and Annual General Meeting. Formal Notice of the GSNV Annual General Meeting has been circulted to all members and networks and we look forward to seeing many support groups and members present.
For information on the GSNV AGM, please refer to ourr website wwww.gsnv.org.au. Please also refer to the attached PDF documents and don't forget to RSVP! The GSNV once again calls for interested persons to join our committee and to contribute to our strategic decision making processes and representative voice.
Information regarding the GSNV Small Grants Scheme will be announced in the coming weeks. The 2013 criteria and application process will be announced to coincide with a new GSNV Membership scheme. Keep an eye on our website for details.
Reflectionon student placement at GSNV By Grace Polak and Nancy Amin, Master Genetic Counselling students
As part of our training in becoming Genetic Counsellors through the Master of Genetic Counselling (University of Melbourne) we are required to complete a community placement that will expose us to varying aspects of genetic health and its relation to the wider community. This is not designed to be a direct genetic counselling placement; rather, we were placed with a community agency where we would hopefully come to understand how these community organisations relate to genetic counselling, and also how families and individuals experience the array of available services.
We both chose the Genetic Support Network of Victoria (GSNV) as our first preference due to our lack of experience with genetic support groups in general and also to gain an understanding of the important work done by the GSNV in supporting individuals and families who are impacted by a genetic condition.
During our placement we learnt a great deal about support groups and the work that the GSNV carries out to support those who are affected by genetic conditions. For example, we spent time learning about and interacting with members of Syndromes Without A Name (SWAN) Australia. This has heightened our understanding of the ‘diagnostic odyssey’ some parents go through in order to find a diagnosis for their child. This also highlighted how important having a diagnosis is for enabling parents/carers access to much-needed services and funding to properly provide for their child.
Another area which we had the opportunity to research was the Commonwealth Government’s healthcare scheme, DisabilityCare. This new scheme aims to alleviate the burden that chronic conditions have on society by specifically focusing on providing funding and supports towards early interventions that lead to improved outcomes in the long term. We found this information quite relevant in terms of our future work as Genetic Counsellors, particularly in terms of providing clients with clinical and practical information before and after diagnosis.
Working with Louisa Di Pietro and learning about her experiences also brought to our attention that even for people with a genetic diagnosis, the out-of-pocket personal healthcare costs can be significant whether or not they are accessing private healthcare insurance. Furthermore, for a vast number of people who are only able to access the public healthcare system, they are often faced with long waiting periods unless their condition becomes critical. We believe this highlights one of the major gaps in support for those with genetic conditions, not only for their physical health, but the mental stressors of living with a chronic illness and its associated barriers.
The GSNV has provided us with an invaluable opportunity to learn about the various support groups and services available to those with a genetic condition. We were also grateful to be able to gain an insight into GSNV’s role in promoting the interests of individuals and families who are impacted by a genetic condition. As Genetic Counselling students we are extremely appreciative of the insight we have gained from the GSNV and working with its brilliant team.
GSNV Volunteer Program
As always, the GSNV is committed to supporting support groups in order that together, we assist the community and raise awareness. The GSNV Volunteer Program is a new initiative this year designed to match community members seeking some hands-on experience in the genetic health and support group/community environment with support groups in need of a helping hand.
Support groups and volunteers have been providing great feedback so far.
"(our volunteer) was a great help one the day and is a delightful young man" - support group
"it was a great experience, very rewarding and enriching" - volunteer
The GSNV continues to invite support groups to put forward small tasks. For more information visit our website.
SWAN AUSTRALIA warmly invites you to a information session on:
presented by Rebecca Gelsi - Carers Victoria.
The presentation will be followed by SWAN Australia's Annual General Meeting.
Date: Wednesday, 9 October 2013 Time: 10.00am – followed by SWAN’s AGM Location: Royal Children’s Hospital – Murdoch Institute, Parkville, Vic (Room to be confirmed) RSVP: Email: firstname.lastname@example.org or Tel: 0404 280 441
Note: Details and agenda of our AGM will be forwarded to SWAN members shortly.
SWAN are hoping to digitally record the presentation by Rebecca so their interstate members can view it. Due to limited technical equipment, it won’t be able to be streamed live but will be available on their website later in the day/evening.
Congratulations Muscular Dystrophy Association!
Victoria-based Muscular Dystrophy Association (MDA) has recently attained certification from the International Organization for Standardization (ISO). The certification involved an independent review of their framework, placing MDA in a very small group of not-for-profit organisations to achieve this elite status.
The ISO certification means MDA will continue to enhance client satisfaction through continual improvement and conformity to statutory and regulatory requirements.
Source: MDA Messenger Newsletter, July 2013
Step UP! for Down syndrome is a huge, national celebration. This community event brings people with Down syndrome and their families and friends together during Down Syndrome Awareness Week in October.
PARTICIPATE to raise funds for education, support and advocacy programs provided by Down Syndrome Victoria.
Melbourne - Sunday 13th October at Princes Park, Carlton
Geelong - Sunday 27th October 2013 at Steam Packet Gardens
Fragile X Syndrome Family and Community Day (for families and professionals)
Fragile X is the leading cause of inherited intellectual disability and the most common single-gene cause of autism, but is the least known.
The Fragile X Association of Australia has arranged for experts from the US and Australia to present an overview of Fragile X syndrome for health professionals, educators and families.
Learn more about Fragile X syndrome and be updated on the latest about this important cause of developmental disabilities, ADHD and ASD. The speakers are recognised experts in their fields and will cover a wide range of management strategies relevant to developmental disabilities and autism spectrum disorders.
Events will be held around Australia in the coming months:
Adelaide Monday 16 September
Brisbane Monday 23 September
Sydney Wednesday 25 September
Launceston Friday 1 November
For more details see the Fragile X Association of Australia website or contact FXAA on 1300 394 636 (free call) or email@example.com
Also see their website for opportunities to participate in exciting new research studies.
A message from the Williams Syndrome Family Support Group:
African Drumming A Hit!
"This year’s camp activity was a little more sedate (although noisy) than other years which was great as it was raining most of the day! All ages and abilities gathered for instruction and fun, making music. I admit to being fairly rhythmically challenged so I gave it a go but was definitely outshone by young talent like Ruby, Maya and Zoe.
New to our group, dad Matt dazzled with a solo and both he and mum Cassie looked on in amazement as baby Isabella (WS) recovered from her sensitive hearing reaction to bang on her ‘drum chair’ in the window. The star of the show though had to have been little Heidi Aldous, whose enthusiasm had everyone cheering.
We would like to acknowledge the assistance with gratitude from the Genetic Support Network of Victoria (GSNV) – Small Grants Scheme 2012 which provided a small grant to help fund this activity."
Reproduced with permission from the Williams Syndrome Family Support Group Newsletter Issue No. 3 December 2012
Stay tuned to the GSNV website for updates on the 2013 Small Grants Scheme
Lord Somers Camp: Sharing the Spirit
Lord Somers Camp and Power House is a volunteer-led community service organisation united in serving others. Sharing the Spirit is a team fundraising initiative for the members of Lord Somers Camp and Power House to raise money to support the ongoing delivery of our unique programs and activities.
"Hi, my name is Anita Feigin and I am a first year student in the Master of Genetic Counselling. I have been heavily involved as a volunteer with Lord Somers Camp and Powerhouse for 10 years. I have gained so many important skills and learnt so much through my work with this organisation and it is now my turn to give back by “sharing the spirit” and raising much needed funds. In doing this I would like to combine my passion for genetic counselling by devoting a couple of days of my time later this year to a GSNV group who could benefit from the support of me (and potentially a small group of friends if the task calls for it). We could help with anything from babysitting, taking siblings out for a day, cleaning, running a fun day or anything that your group could benefit from. I look forward to working with you and getting to know you and your families!"
Support groups or members who are interested in discussing this opportunity further should please contact the GSNV on 8341 6315 or firstname.lastname@example.org
Case study reveals genetic discrimination in life insurance
A recent study published in the Australian Medical Journal this month reveals a case study that "presents evidence that life-insurance companies have made incorrect risk-assessment judgments based on genetic information”, said lead researcher. The study reports a young man being denied life insurance due to test results for a cancer predisposing gene.
Fear of descrimination can deter individuals from having genetic testing. This research suggests the need for further dialogue between key stake holders about genetic testing and insurance.
A recent article published in The Australian describes several members of a family at risk of having inherited a gene fault that causes Hereditary Diffuse Gastric Cancer, and their decisions about whether to have predictive genetic testing. This article highlights the unique and personal nature of the decision to have predictive testing, and that the right decision for one person may not be the same as the right decision for another person.
The Cancer Council of Australia has created 'iheard', an online forum designed to dispel myths about cancer. If you have heard a claim about cancer and want to know whether it is true, you can submit your question online. A team of scientists, clinical advisors, researchers and cancer prevention and support experts will respond with an accurate evidence-based answer.
You can also listen to Professor Ian Olver from the Cancer Council of Australia discuss cancer myths, including "catching cancer" here.
Experts debate the ethics of genetic testing in children
In most cases, it is not recommended that children have predictive genetic testing until they are old enough to give their own consent. However, when the condition may have onset in childhood, the scenario becomes less straight-forward. Listen to a panel of experts discuss a real-life case of a mother wanting to have her children tested for the gene causing cancer in their family, on BBC Radio Inside the Ethics Committee.
NIH to fund consortia studying rare disease biomarkers
National Institutes of Health (USA) plan to fund $17.5 million in 2014 to support a network of consortia that will pursue clinical research projects focused on rare diseases. A major aim of this collaboration will be to investigate biomarkers for disease risk and severity and to apply these findings to clinical trial outcomes.
Source: 'NIH to fund consortia studying rare disease biomarkers' August 19th 2013 on GenomeWeb, www.genomeweb.com
Prospects for ovarian cancer screening
Ovarian cancer is difficult to detect in its earlier stages and presently no evidence-based screening is available. An initial study reported in the journal Cancer used a chemical found in the blood, 'CA125', to detect early ovarian cancer. The results of this small study were promising, and will be followed up in a much larger UK study due to report findings in 2015.
Genetic cause of childhood leukemia identified
The first identified genetic link specific to risk of childhood leukemia was published in Nature Genetics this week. It is suggested that this may provide an explanation for only a very small subset of cases of childhood leukemia, however it is a step toward a greater understanding the genetic influence of cancer susceptibility. Interestingly, the leader of this study also lead the 1996 study that identified the breast cancer susceptibility gene, BRCA2.
Genetic Family MeetingFriday 18th October
For family members affected by genetic prion disease. Lisette Curnow (genetic counsellor) and other keynote speakers will provide information.
Full Day ConferenceSaturday 19th October
Topics to be covered include: Genetic CJD and research, surveillance and diagnostics in Australia, privacy in the healthcare setting, and family stories. Key note speakers include Australian and international experts in CJD.
Individuals and family members at risk or affected by CJD or other prion diseases are invited to attend for free.
Healthcare professionals are invited to attend for a fee of $60 (to cover the cost of catering).
Royal Children's Hospital Trek for Children's Health
In October, an adventurous group of people will take part in a unique trek to the Great Wall of China to support life-changing and life-saving advances in paediatric health care through The Royal Children’s Hospital Foundation. So far over $17,000 has been raised.
Positive Exposure is a not-for-profit organisation in USA founded by award winning fashion photographer, Rick Guidotti. Guidotti took photographs of whowere considered the world’s most beautiful people, until he discovered "the beauty in our shared humanity".
Positive Exposure uses photography and video to transform public perceptions of people living with genetic, physical and behavioral differences – from albinism to autism. They support educational and advocacy programs around the world to promote inclusion and celebration of differences.
Rick Guidotti will be a keynote speaker at the Canadian Association of Genetic Counselors Annual Education Conference in November.
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.
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 email@example.com.
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 firstname.lastname@example.org. 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.