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Bits and Pieces March 2018

Contents

  • From the team
  • Support group news
  • In the media
  • Conferences and seminars
  • Resources
  • Community
  • Research
  • Seeking contact
  • GSNV Calendar

From the team

Dear GSNV community,

We are now well and truly into the year and I love it when a plan comes together!
 
We have an organizational plan, individual work plans, professional development plans that roll up to deliver our strategic objectives. Yep, I’m a fan of the saying Failure to Plan is a Plan to Fail. Plans do have to be actionable though or they’re not worth the paper that they are written on.
 
Our vision remains for A Victoria where everyone can flourish and we are totally committed to the pillars within our area of control where we can make a difference – education, advocacy and support for people with genetic conditions and those who support them.
 
An important theme for GSNV in 2018 is collaboration – we are undertaking a number of projects that are fundamentally about harnessing skills, knowledge and resources to collectively serve a greater outcome than could be achieved on an individual basis. Collaboration relies on communication and shared vision and will lead to a innovative approach.  Our collaborative approach will lead to more connected and engaged community and building social capacity within the communities we serve.
 
We recognize that collaboration is key the development of systemic advocacy priorities and key actions that could taken to improve the lives of people with genetic conditions in Victoria.
 
It’s clear that there are principles and practicalities that are major priorities including:  
 
  • Equity
  • Housing
  • Lack of clarity and changes to service provision and the NDIS
  • Cost shifting and withdrawal of funding to many community and local service providers which has left many people vulnerable and without options
  • The system is developing and for many still following a medical model and not a holistic model leaving room for interpretation when it comes to assessing a persons needs
  • There is transition malaise which can cause much pain and frustration
 We’ll be seeking co-collaborators for these issues and more so watch this space.
 
Speaking of space, ours has changed recently. The winds of change are blowing here at the GSNV as we find ourselves farewelling one of our committed and highly skilled team. We know that Nancy Amin has changed people’s lives and worked tirelessly to support individuals and support groups. We are all better for having benefited from Nancy’s work and I’d like to share my personal gratitude for her commitment to excellence and her patience with my enthusiasm!  I know you’ll join me in wishing her well.
 
With warm regards
Monica Ferrie
CEO


Dear GSNV community,
After over four great years at the GSNV, it comes the time for me to move on to new challenges. I have had a few career changes throughout the years. I was a molecular and developmental research biologist for just over 10 years. I really enjoyed the science but really wanted to work in an area where I could help people in a more direct and immediate way. I joined the GSNV while I was retraining to be a genetic counsellor. My time at the GSNV, fostered my understanding of how genetic conditions can impact the lives of individuals and their families. Hearing about your experiences, the challenges that are faced, and how they have been overcome, have prepared me well for my new career as a genetic counsellor. In particular, working closely with support groups has helped me understand all the great work you do to support each other, in ways that health professionals cannot. Thank you all so much for sharing your stories with me, and helping me learn more about genetic conditions and what you are going through.

Best wishes,
Nancy Amin
Communications & Support
 

Support group news

17th March 2018
‘Understanding Prader-Willi Syndrome’ seminar

For ALL people associated and interested in PWS. A three-hour Seminar based on ‘PWS and the impact of biology on thought processes’. Dr Hödebeck-Stuntebeck and Dr. Soyer will be providing valuable insight on how people with PWS think. Whilst PWS’ most well-known symptom is overeating, it’s not the only symptom. The Dr’s will be addressing all the other symptoms associated with PWS and why those symptoms result in unique behaviours for people with PWS. Find out more here.


18th March 2018
Undiagnosed Children’s Awareness Day 

Save the date. Join SWAN Families in raising awareness of undiagnosed genetic conditions. Food, entertainment, activities, giveaways and more! See swanaus.org.au for more information.


A Mito Information Day & support group meeting will be held on Saturday 21 April in Melbourne. Join in & learn about mito & developments in support, treatments and research. Email rebecca.davis@amdf.org.au to register.
 

In the media

Faster genetic diagnosis for critically ill babies and children in Australia
This month, the Australian Genomics Health Alliance's Acute Care Genomics study will enrol infants and children with suspected genetic conditions from intensive care units across much of the country. The study aims to provide genomic test results in as little as five days to quickly pinpoint the cause of the child’s condition and inform their clinical care. Rapid genomic testing is currently only available at a handful of centres worldwide, and the study will be the first to pioneer a national approach to rapid rare disease diagnosis. VCGS staff have recently completed two pilots, that both went exceptionally well with diagnosis in <70hrs. Read more here.

Genetic testing for women diagnosed with ovarian cancer
A new Position Statement on genetic testing for women diagnosed with ovarian cancer has been released. Women with ovarian cancer are encouraged to discuss genetic assessment and testing for BRCA1 & BRCA2 gene faults with their health professional. Read the new Position Statement for more info. The Traceback program at the Peter MacCallum Cancer Centre in Melbourne will test tissue samples of 11,000 women diagnosed between 2001 and 2016 to see if they are carriers of the BRCA gene mutations. Click here for a personal story about familial ovarian cancer, and here for information about the condition, and here about prevention options.

New blood test detects Alzheimer's disease up to 20 years before symptoms begin
The blood test identifies biological markers in blood plasma that show the build-up of the protein amyloid-beta — one of the first signs of Alzheimer's disease. Read more here.

New Muscular Dystrophy gene therapy
Duchenne Muscular Dystrophy (DMD) is a progressive muscle wasting disease which leads to a significantly reduced life expectancy.  A new study published last month pioneered a technique called myoediting that removes mutated sections of the dystrophin gene that cause DMD, restoring normal function to cells with DMD mutations. The authors say that their approach could restore muscle function in up to 60% of DMD patients. Read more here.

Genomics update
Genomic medicine is increasingly becoming an area of focus in Australia, with the release of two significant reports this week backing this rapidly advancing science. A report released on Wednesday  by The Australian Council of Learned Academies (ACOLA) said precision medicine has the potential to transform Australia’s healthcare system. Precision medicine takes account of a person’s genetic makeup, protein levels and their environment to enable accurate disease prevention and treatment, tailored to the individual. Meanwhile, an Innovation and Science Australia (ISA) report released on Tuesday urged the government to adopt new ‘national missions’, including the better use of genomics and precision medicine. Read more here.

 

Conferences




25th-27th March 2018

13th CHARGE Syndrome Conference 

Individuals, families, professionals and educators interested in the medical, research, educational, psychosocial and therapeutic aspects in relation to CHARGE Syndrome or multisensory impairment. Speakers will be presenting a wide range of evidence-based topics that reflect best practice in the field and will provide practical take-home strategies for families/carers. The conference is an opportunity for families to meet and network with others facing the same challenges, learn from professionals, and to leave armed with useful strategies. Find out more here.
 

Resources

YDAN Q&A Video
A great resource for young (and not so young) people with a disability. YDAN (Youth Disability Advocacy Network) aim to spread knowledge about disability and dispel misconceptions about people with disabilities. Check out this video where four of their members answer some common questions found on the internet.


Find out more here.
 

Community

11th April 2018
Clinical Governance for Health Consumers - Melbourne

A three-hour workshop that will teach consumers, and community and board members the fundamentals of clinical governance from the perspective of consumers engaged in clinical governance committees. The workshop will provide participants with the terminology used in clinical governance and a description of the elements of a clinical governance framework. This will help consumer representatives be more effective and informed leaders on health service boards or committees. Find out more here.

23rd & 24th April 2018
Towards a Better Life Workshop 
- Melbourne
What is this workshop about?
This two day event will inspire participants to reflect on the value of obtaining the good things in life and consider how we may support people who may have been marginalised or disadvantaged to have better lives and greater involvement in their communities.

This event is designed to assist participants to:
  • Understand social devaluation and its consequences,
  • Learn about Social Role Valorisation as a means of addressing experiences of devaluation,
  • Strengthen ones' motivation to counteract devaluation, 
  • Clarify the qualities of the good things in life and how they might be facilitated,
  • Understand the  importance of valued social roles and how to develop roles that lead to authentic inclusion in one’s community.
Who is this workshop for? 
This event is for anyone who is serious about improving the lives of people who may be at risk of being marginalised or disadvantaged, such as people with disabilities, people with a mental illness, people who are ageing and people experiencing poverty or homelessness. It would be of particular interest to people with a disability, their families, students, support workers, planners, LACs, NDIS personnel professionals, managers, CEOs, policy makers, people in leadership positions and other concerned citizens. For more information see the flyer or register here.
 

Research

Families living with rare diseases
We are inviting you to complete an online questionnaire about preconception carrier-screening (please see web link below). The questionnaire is part of the Australian Genomic Health Alliance (AGHA) preconception carrier screening flagship program being drafted currently. The study is being conducted by a multidisciplinary research team led by Professor Nigel Laing at the University of Western Australia (Ethics number: RA/4/1/8847).

The questionnaire should take approximately 15 mins to complete and you can complete the questionnaire on any platform including laptops, desktop, tablets or phones. Your participation will contribute towards identifying attitudes and opinions in relation to preventing severe recessive diseases through a preconception carrier-screening program in Western Australia. This will help to identify future research priorities in this area. We would be very appreciative of your involvement in this important research.

The questionnaire is strictly confidential and anonymous. In order to ensure anonymity, please note that you will not be able to save your responses and return to the survey at a later stage. Please review your responses before clicking ‘next’ or ‘submit’ to send your completed survey. You will not be able to return to your responses after submitting the survey. Data from incomplete surveys will be deleted.

Please click on the web link here to begin the questionnaire. Thank you very much for giving your time to help us with our research.

For more information about the research and how your participation is important to our study, please visit this website.

If you have any queries or comments about the questionnaire or the research study, please contact:
 
Professor Nigel Laing (Chief Investigator)
NH&MRC Principal Research Fellow
Centre for Medical Research
University of Western Australia
Email: nigel.laing@uwa.edu.au
Tel: +61-(0)8-6151-0741
Mobile: 0407-982-141
Mailing address:
Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009

Dr Gina Ravenscroft (Co-Investigator)
Centre for Medical Research
University of Western Australia
Email: gina.ravenscroft@uwa.edu.au
Tel: +61-(0)8-6151-0740
Mobile: 0414-232-267
Mailing address:
Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009
 

Seeking Contact

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.
  • 4q34 deletion
  • Arthrogryposis
  • Autosomal Dominant Osteopetrosis
  • Beckwith-Wiedemann syndrome
  • Cat Eye Syndrome/Schmid Fraccaro Syndrome
  • Cerebrotendinous xanthomatosis
  • Constitutional Mismatch Repair Deficiency (CMMRD)
  • Disorders of the corpus callosum
  • Ehlers-Danlos syndrome coexisting with Lynch syndrome
  • Emery-Dreifuss muscular dystrophy
  • GGCX gene mutation
  • Hajdu Cheney syndrome
  • Hay-Wells syndrome/ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
  • Hereditary Spysiotosis with Iga Nephrophy
  • KCNA2
  • Megalencephaly Capillary Malformation (MCAP) syndrome
  • Milroy disease
  • Mitchell's disease (Erythromelalgia)
  • Moebius Syndrome
  • Neutral lipid storage myopathy
  • Neutropenia
  • Pantothenate Kinase-associated Neurodegeneration
  • Peutz-Jeghers syndrome
  • Polymicrogyria
  • Potocki-Schaffer syndrome
  • Renpenning syndrome 
  • Schizencephaly
  • Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
  • TRAPPC9 associated intellectual disability
  • Wilson’s disease
  • Wolfran syndrome
  • Xp11.3-11.4 deletion
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 emailing info@gsnv.org.au or phoning (03) 8341 6315.

For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au
 

Calendar

Click here to see the GSNV calendar of events.

CONNECT WITH US


OF THE

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 impacted by genetic conditions
  • health professionals
  • students
  • interested individuals
  • members of the community
The membership fees are used to fund the GSNV Small Grants program that supports the vital work of support groups who are often under resourced and in need of a helping hand.
 
BI-ANNUAL PRINT NEWSLETTER
  • Keeps members informed and updated
  • Includes research, resources, services, and policy updates
PEER SUPPORT TRAINING
  • The GSNV runs peer support training every year, and it is free for financial members
SUPPORT GROUP SUPPORT
  • The GSNV assists with facilitated support group training
  • Support with setting up, incorporating and developing governance
  • Volunteer support and access for projects
  • Accessing resources
ACCESS TO MEMBERS ONLY RESOURCES ON THE GSNV WEBSITE

Find out more here.

We are also currently recruiting new board members for the GSNV committee of management. Please send your expression of interest to info@gsnv.org.au

First Step FREE Webinars


Are you in the early days of the journey with your child with a disability?

The First Steps workshops are for parents of children with a disability in the early years before school.

These FREE workshops will help you to understand how the disability services funding works, learn more about services and supports, meet other parents and build confidence. 

Find out more here.

Undiagnosed Through a Mother's Eye book


Through a Mother's Eye is my photographic journey; it is a constructed dreamlike reality that weaves together my personal experience of having ill children, the emotional turmoil felt by both myself and my children, and the experiences of not knowing what is threatening my children’s lives. The series reveals the complexity that undiagnosable, and life threatening diseases present to not just our family, but all families from one day to the next, as well as the challenges of the unknown and unexplained. To understand, through my eye's, what it looks like to watch my children fight for existence.
 
The book includes both fine art and photojournalistic images, and is a therapeutic journey designed for anyone who has been touched by a seriously ill child.  The images are created beautifully in photographic dreamscapes, drawn from not only moments of hope, but also from moments of darkness.

270mm x 230mm and 44 pages long, printed on art paper.  The photographic book is beautifully presented with perfect binding and contains never seen before images of Jenna and Jayda's journey, Volume I.
 
$29.00
Proceeds from every book sold will go to funding Jenna and Jayda's Liver Bear for seriously ill children, and Syndromes Without A Name.

NDIS Workshops


Regular NDIS workshops and open house sessions are being run in various locations across Victoria. You can come to a session near you, and learn about the NDIS and ask questions.

Go to the Victorian events page to book your place at one of our upcoming sessions.
The Star Ball fundraising Gala Balls take place annually in Canberra, Darwin, Sydney, Melbourne and biennially on the Gold Coast with proceeds going to the Starlight Children’s Foundation to brighten the lives of seriously ill children, teenagers and their families throughout Australia.

In 2017 the aim was to raise $1.2m across all five Gala Balls, with Star Ball Melbourne equally supporting a second charity, EB Research Foundation.

WHEN
Saturday 25th August, 2018

WHERE
Plaza Ballroom, Regent Theatre

THEME
007 James Bond

Find out more here.

Herald Sun / CityLink Run for the Kids


The Herald Sun/CityLink Run for the Kids is a community event, and its primary aim is to raise funds for the Royal Children’s Hospital Good Friday Appeal.

March 18th 2018

Find out more here.

MS Melbourne Cycle and Half Marathon


Whether you are a runner, a cycler or somewhere in between – the MS Melbourne Cycle + MS Half Marathon is the event for everyone.

It’s the perfect day for you to have some fun while you exercise, spend the day with friends and family, and raise essential funds for people living with multiple sclerosis.

15 April 2018

Find out more here.

World's Greatest Shave


Every hour somebody in Australia is diagnosed with lymphoma, myeloma or leukaemia. Every second hour, somebody dies from one of these diseases.

The World's greatest shave has raised in excess of $120 million since 1998, and uses the raised funds to support patients and families living with these blood disorders. Funds are also used to support blood cancer research to help find better treatments and cures.

Get sponsored to shave your hair and help Aussie families beat blood cancer 14-18 March 2018.

Find out more here.

World Down Syndrome Day


Down syndrome is a naturally occurring chromosomal arrangement that has always been a part of the human condition, exists in all regions across the globe and commonly results in variable effects on learning styles, physical characteristics or health. Adequate access to health care, to early intervention programmes and to inclusive education, as well as appropriate research, are vital to the growth and development of the individual.

In December 2011, the General Assembly declared 21 March as World Down Syndrome Day (A/RES/66/149). The General Assembly decided, with effect from 2012, to observe World Down Syndrome Day on 21 March each year, and invites all Member States, relevant organisations of the United Nations system and other international organisations, as well as civil society, including non-governmental organisations and the private sector, to observe World Down Syndrome Day in an appropriate manner, in order to raise public awareness of Down syndrome.

Find out more here.

Purple Day


Purple Day is an international grassroots effort dedicated to increasing awareness about epilepsy worldwide. On March 26th annually, people in countries around the world are invited to wear purple and host events in support of epilepsy awareness.

Find out more here.

Carers Education Workshops - 2018


Carers Victoria offers carer workshops and educational programs to help you enhance your knowledge about how to best support your own health and wellbeing, and that of the person you are caring for.

Through our Education Service you will be able to explore the impact of caring on your emotional and physical health. You will also gain practical advice on how to navigate the health and community sector.

For more information please contact Education Services on 1800 242 636 or via email at education@carersvictoria.org.au.

The list of available courses can be found here.

CONTACT US


Genetic Support Network of Victoria
Royal Children's Hospital
Murdoch Childrens Research Institute 50 Flemington Road
Parkville, VIC 3052
Australia

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