- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Welcome to the latest edition of the GSNV E-News Bulletin Bits and Pieces. The year is moving very quickly and as we are well past the end of the financial year it is Annual General Meeting (AGM) season once again. The GSNV will be holding its 2014 AGM in November (week of the 17th of November) so please do look out for our Notice and Agenda
in the coming weeks. The GSNV is also announcing information on Peer Support Training (see below)
and Small Grants for 2014
very shortly. We hope to receive lots of participants and see many applications for both these programs designed to assist our community. Please continue to send your feedback and comments to us and if your details/email have changed please do let us know.
Introducing our Community Placement Students
Hi! Our names are Stephanie and Heidy and we are currently at the GSNV for our community placement, which is a component of the Master of Genetic Counseling. Before beginning the Master of Genetic Counseling, Stephanie completed an undergraduate double degree in Science and Music at the Australian National University in Canberra. Heidy had studied a Bachelor of Health Sciences at Flinders University in Adelaide, a Graduate Diploma in Counselling and was volunteering as an alcohol and other drug counsellor.
Being at the GSNV has been a great opportunity to observe and participate in a link between the medical community and families affected by a genetic condition. One of the most valuable things we have done at the GSNV was observing some support group education events. We both attended the SWAN (Syndromes without a Name) Ambiguous Loss workshop and Heidy participated in peer support group training at Cystic Fibrosis Victoria. At both of these events people generously shared stories about how their lives are shaped by a variety of genetic conditions. For us, these insights are so valuable in helping develop an understanding of how genetic conditions affect families and the things we, as future genetic counsellors can do to help. The support group activities we attended and the work done at GSNV to facilitate similar activities, have made us more aware of the importance of encouraging families to connect with a relevant support group. We have seen that these groups provide an opportunity for psychological support, companionship, advice and advocacy, and support with daily tasks.
We would like to thank Louisa and her team for being so welcoming to us and making our time at the GSNV so enjoyable.
25th September 2014
International Ataxia Awareness Day
Support group news
The "International Ataxia Awareness Day
" is an international effort from ataxia organizations around the world to dedicate September 25 as International Ataxia Awareness Day. The Victorian event
will be a BBQ
held at Lilydale Lake Community Room, Swansea Rd, Lilydale on the 1st November 2014
(as not to compete with the AFL football finals) 11:00 AM - 3:00 PM
. Free BBQ, tea, coffee, soft drinks and cakes, many lucky prizes too. A lovely indoor and outdoor venue with wheelchair access and facilities. A shuttle bus will be provided free of charge from Lilydale and Ringwood Railway Stations, phone 0429589717 to make a bus booking. (wheelchair friendly). Donations of goods and services from businesses make AA Day a success. Emily Kirk from Wodonga will be singing some lovely songs for entertainment. For more info see the website
4th October 2014
Heidi is a mother of Sarscha who has a condition called Monilethrix that affects hair growth. The most characteristic feature is the individual strands of hair have a 'beaded' appearance. People with this condition have sparse hair growth and short brittle hair that breaks easily. The prevelance of Monilethrix is not known and as far as we know Sarscha is the only diagnosed person in Australia.
On the 4th of October Heidi will be having her hair cut by the wonderful Chanel La and all money raised will be going to the Genetic Support group of Victoria.
The venue will be The 'Soul Box' 252 Hindley street, Adelaide
. Doors open at 7.30pm and the show starts at 8.30pm, tickets are at the door and are $15. Come along and support the Young Gunz and Heidi's family for a great cause!
6th October 2014
The Congenital Adrenal Hyperplasia Support Group Australia Annual General Meeting
This meeting will be held at 8.00pm via Skype. If you wish to participate in the AGM, you will need to download the latest version of Skype
and request permission to attend at least 3 days prior to the meeting.
You are invited to participate and encouraged to nominate for a position, even if it just general committee. Please see attached document
. If you have any questions please call on 0417 628110 or email email@example.com
8th October 2014
Victorian Fragile X Family Network, Fragile X Get Together
Daisy's Hotel, Ringwood at 12pm - for more info click here
12th October 2014
Spinocerebellar Ataxia Australia Inc General Meeting for members and guests
Guest Speaker: Gary Rance (PhD)
Presentation Title: SCA and Hearing.
2.30pm Sunday 12th October 2014 at the Neurological Conference Room, 4th Floor Centre Block Lifts, Alfred Hospital Melbourne
12th -18th October 2014
Red Cake Day & Haemophilia Awareness Week
Haemophilia Awareness Week is an opportunity for Haemophilia Foundations and other organisations, and individuals and families to take part in activities to raise awareness about haemophilia, von Willebrand disorder and related inherited bleeding disorders throughout Australia during the week of 12-18 October 2014. The money raised will help support some of Haemophilia Foundation's programs and services across Australia such as the Family Camps. For more information see the website
19th October 2014
Haemophilia Foundation Victoria Ladies’ Day Out
The "Ladies' Day Out" event is designed to provide a much appreciated yearly break from the routine and demands of women who are impacted in some way by Bleeding Disorders, either directly or as a caregiver or family member. HFV offer peer support and an opportunity to try new, perhaps previously undiscovered, methods of relaxation and improved well being. For more info click here
26th October 2014
Annual walk or run to support Cystic Fibrosis Victoria - Great Strides
Help people living with Cystic Fibrosis breathe a little easier. Corporate teams, schools, community groups and individuals are all invited to take part. You can walk, jog or run to help raise money for vital services and programs, advocacy and research that helps to extend the lives of Victorian's living with Cystic Fibrosis. Click here
for the website.
29th October 2014
NSW National Plan for Rare Diseases Roadshow
Rare Voices Australia is advocating, as its number one priority for Australia, to adopt a National Rare Diseases Plan. You and one other member of your organisation to give your valued contribution at this National Plan Engagement Roadshow (for Rare Diseases) in NSW.
Wednesday 29th October
9.00am for 9.30am – 12.30pm
Zenith Centre, Corner McIntosh and Railway Streets, Chatswood
$7.00 flat rate (limited spaces are available).
The centre is located within walking distance of Chatswood Station. Morning tea is available on arrival.
and meeting information
. Please consider the Focus Questions for discussion, in the briefing paper
Please confirm your attendance by 20th October 2014 to Rebecca Novacek at firstname.lastname@example.org
31st October 2014
Sick or Treat Charity Ball (Sydney)
Join Rare Cancers Australia and help support the many people diagnosed each year with a rare and less common cancer. Held on the night of Halloween, the evening promises to be great fun whilst directing focus on this very important cause. For more info click here
In the media
Myriad wins the right to patent BRCA1
Earlier this month the federal court of Australia upheld a ruling earlier last year, allowing corporations to continue owning the rights to human genes. This runs contrary to last year's US supreme court decision that ruled that inventions such as synthetic DNA are patentable, but naturally occurring genes are not. Opponents to the ruling in Australia warn that this limits genetic testing and research, and the development of treatments. References: Sky news
, The conversation
New gene editing method shows promising results for correcting Muscular Dystrophy
Researchers have used a mouse model of Duchenne Muscular Dystrophy (DMD) to show that a new gene editing method can correct a mutation that leads to DMD. For the article click here
New orphan drug for Huntington Disease
Prana Biotechnology has obtained orphan drug
designation for its lead MPAC (Metal Protein Attenuating Compound) PBT2 by the US Food and Drug Administration (FDA). This means that Prana has seven years of market exclusivity for the use of PBT2 in the treatment of Huntington disease to encourage development of the drug. For more info click here
New anti breast cancer drug trial
A group of Melbourne researchers are testing a drug called denosumab in a group of women with the BRCA1/2 gene fault (carriers of which have around 40-60% chance of developing breast cancer). If successful this drug may become an alternative to preventive mastectomies for carriers of BRCA1/2. To read more click here
11th October 2014:
Disorders of the Corpus Callosum Parent Conference
13th - 14th November 2014
Not-For-Profit People Conference
Please join us for the disorders of the corpus callosum parent conference. The conference will feature presentations from clinical experts and parents of affected children, with a focus on the clinical and psychosocial aspects of these conditions. For venue details and/or RSVP by Friday 3rd October: email@example.com
23rd - 24th October 2014:
Registrations are now open, for more details click here
12th November 2014:
The MIND-IT conference aims to improve understanding of behavioral and emotional problems in children and adolescents with intellectual and developmental disabilities For more information click here
Connect with other like-minded professionals as they share, learn and debate innovative ideas and practices around recruitment, leadership, training, management, health & wellbeing and HR’s place in organsiational strategy. EthicalJobs
is giving away one free conference registration
- Enter the draw today
3rd - 5th December 2014:
50 Shades of Pain Conference
The 50 Shades of Pain Conference will be held 3-5 December 2014 in Brisbane. Hosted by the Australian Pain Management Association and Palliative Care Queensland, it will focus on advanced clinical issues in palliative care and pain management. For specialist palliative and pain management doctors, nurses, allied health practitioners, educators and volunteers from across Australia.
For details or sponsorship opportunities contact: John-Paul Kristensen on 07 3256 2486 You can also download the flyer
WFH World Congress Member Reports
Haemophilia Foundation Victoria Inc was able to assist over 70 of their members to attend the WFH World Congress in Melbourne from the 11th - 15th May 2014. The sessions covered every aspect of bleeding disorders. Click here
to read session reports from members that attended.
Access for All Abilities Play
A New website that connects people with a disability to sports and recreational opportunities in Melbourne. See aaavic.org.au
What is Fabry Disease?
Fabry support group Australia have released an on-line resource that outlines the signs and symptoms, genetics and information on symptoms management. The resource can be found here
Huntington Disease Fact sheet
to read a fact sheet about strategies for coping with the behavioural changes associated with Huntington disease.
New Chronic Pain Resource to Help GPs and Patients
has partnered with Healthshare to provide a useful resource for GPs to help patients with chronic pain better understand and manage their condition. Click here
for the resource.
Haemochromatosis Health Pathway
The pathway website gives health staff easy access to all the information they might need to diagnose and treat patients with haemochromatosis. There’s also info for patients available. For more info click here
Autism Spectrum Disorder & Disability App
The Raising Children Network
's new Children with ASD & Disability app has been designed for parents of children with autism spectrum disorder or a disability and includes a handy services map tool for your area and key contacts directory, information on funding and support, parents’ videos and other research-based helpful articles. Download for free from iTunes for iOS
and Google Play for Android
Behavior Strategies to Help Children with Autism
for the resource.
What expectant dads need to know
The Raising Children has produced a guide for dads about the information they wanted when their partners were pregnant. The topics and information here are based on what they told us. Click here
for the website.
25th September 2014
Webinar: Working Beyond Cancer
Cancer Council NSW will be hosting a free online webinar ‘Cancer, Work & You: How do I get a better work life balance?' that anyone in Australia can participate in. For more info click here
26th September 2014
Commonwealth Bank Very Special Day
Commonwealth Bank branches all across Victoria are holding a special day to show their support for the Very Special Kids Piggy Bank Appeal. Get down to your local branch for a range of fundraising events and activities including sausage sizzles, cupcake stalls, staff dress ups, merchandise and other piggy-related activities.
27th September 2014
Public Speaker Training
Cystic Fibrosis Victoria will hold a public speaker training course that will teach skills in story telling and presentation to give you the confidence to share your CF story. If you're interested in registering or finding out more about either training session, contact Louisa - firstname.lastname@example.org
or 03 9686 1811. CFV can help with travel and accommodation costs if necessary.
28th September 2014
The Inaugural Young Carers Festival
28th September 2014
Friends of Sammy-Joe (FOSJ) Face Paint Challenge and Picnic
Have your face painted with letters FOSJ and make a donation, amount up to you, big or small. A local and very deserving charity, supporting families with rare genetic conditions such as Trichothiodystrophy
(TDD). So come along for a BYO picnic (BBQ facilities available) get out side this spring with the family and support a worth local charity. Venue:
Highlands Lake Reserve 1 North Shore Drive, Craigieburn, Victoria, Australia 3064 Time:
28th September 2014
Caulfield Charity Race Day
Support your favorite charity such as Down Syndrome Victoria, SIDS and Kids, and Cancer Council Victoria. Proceeds from General Admission Tickets will be contributed to the Charity you nominate to support. Rides, attractions and activities can be found all over the course from 11am – 5pm. For more information click here
29th September – 3rd October 2014
Metabolic Dietary Disorders Association (MDDA) Family Retreat NSW
The retreat program will emphasis community support, interaction and sharing. Enjoy a relaxed and informal environment where you will make new friends, learn new ways of coping, learn new food ideas and leave with a sense of well being and empowerment. Further details, click here
12th - 18th October 2014
As a salute to carers, Carers Australia
invites everyone to take time out to learn more about carers and caring in Australia. The theme for Carers Week 2014 is to Take a break and raise your voice to support our carers, with all Australians being encouraged to participate in a key national event: Careroke
. To find out more visit the website
8th November 2014
Neuroblastoma Parent Education Day (Sydney)
This will be the first Neuroblastoma parent research day held in Australia and it will provide an overview of current research taking place in the area of neuroblastoma – presented by leading experts and will give parents the opportunity to ask questions about research to leading experts and to meet other parents with children affected by neuroblastoma. To book and for more information click here
Early December 2014
GSNV Peer Support Training
Please contact us at email@example.com
to register your interest. Further details will be announced soon.
GSNV Small Grants Scheme
Please contact us at firstname.lastname@example.org
to register your interest in a small grant application
Rare Diseases Survey of Adults
Provide your input to the Australian Rare Diseases Survey of Adults and add your voice to the experiences of those living with rare diseases in Australia. Click here
for the survey.
Potocki-Lupski Syndrome Online Survey
Researchers at the Cerebra Centre for Neurodevelopmental Disorders at the University of Birmingham are conducting a study, which aims to investigate the behaviours may be associated with Potocki-Lupski syndrome. Researchers are inviting parents/carers of children and adults with Potocki-Lupski syndrome to complete an online survey about the health, mood, sociability, and repetitive and challenging behaviours shown by the person they care for, as well as parent/carer well-being. Please see the research information attached, or use the following link to access the information sheet and online survey
Treatment Adherence Study
Annette, a pharmacy student, is doing a study into treatment adherence as people with Cystic Fibrosis (CF) move from paediatric to adult care, and how the pharmacy could help make sticking to treatments easier.
If you have CF and are aged 19-30 Annette would love to hear from you! The study involves a single interview (approx. 1 hour, face to face or via phone/skype) with the researcher at a time convenient to you. Contact Louisa at CFV
for Annette's details.
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.
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- Pantothenate Kinase-associated Neurodegeneration
- Megalencephaly Capillary Malformation (MCAP) 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 emailing email@example.com
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
to see the GSNV calendar of events.