- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
Welcome to the latest edition of the GSNV E-News Bulletin Bits and Pieces. With Rare Disease Day now behind us we thank all those who attended our event and contributed to our 'Show Us Your Support' campaign. We are grateful for the contribution of our GSNV community and campus partners within MCRI and the RCH, who support this day every year and provide important information and perspective to our audience. Please feel free to give us any feedback and/or ideas for Rare Disease Day.
In our last edition we reported that the GSNV has said goodbye to our wonderful administrator Anna Jarmolowicz. We announce that Emily Allen has been appointed as our new administrator and has commenced working in the office this week. Emily is a second year Master Genetic Counseling student and last year conducted a placement with the GSNV. We delighted to have have her on board and welcome her to our team.
Save the Date
The GSNV is planning its 2016 Annual General Meeting, please put the May 19 in your diary as we would love to see you there.
Louisa Di Pietro
Group Leader GSNV
Introducing Emily Allen
Hello, my name is Emily and I have recently taken on the role of administrative assistant at the GSNV. I am currently enrolled in my final year of the Master of Genetic Counselling course. My previous degree was a Bachelor of Science in Biology, which I completed at home in Canada at the University of Calgary. I moved to Melbourne a year ago to undertake my masters and now consider this city to be my home away from home! I worked with the GSNV during the first year of the Master of Genetic Counselling course while on a community placement to learn about how different support organisations can assist those in the general public. I really enjoyed being able to collaborate with the organisation at that time and am looking forward to being a part of the GSNV team! I am particularly looking forward to engaging with the many wonderful volunteers who make so much of what we do at the GSNV possible.
Support group news
New women's support group
A new Women’s Disability Support Group is starting up to talk about sexuality, relationships and spirituality. Come along to the group to be empowered and discuss barriers and misconceptions and issues related to developing healthy relationships and knowing how to deal with situations of intimidation and abuse.
All women with a disability are welcome and ethnic people with a disability are encouraged to attend. This support group will run fortnightly on Tuesday mornings in Glenroy. Download the support group flyer
for more information.
For more information or to join the group, contact Christian Astourian on firstname.lastname@example.org
or T: 9367 6044.
6th April 2016
Parent support meeting hosted by Dyslexia Support - South Australia
A casual gathering of parents, carers and children to discuss all things dyslexia and support each other. More info here
6th April 2016
Australian Mitochondrial Disease Foundation Support Teleconference
AMDF will host its first Support Teleconference on 6 April at 12:30pm AEST.
The support teleconferences are a virtual space for members of the mito community to connect with each other. We hope they will go a little way to ease the isolation that many people experience, whether due to geographical location and/or health issues. The teleconferences are open to everyone affected by mito. To register, contact Rebecca on 02 8033 4113 or email email@example.com
8th April 2016
HeartKids Final Field Golf Classic
Mandalay Golf Course 430-450 Mandalay Circuit, Beveridge, Victoria 3753.
Registrations commence at 7am for an 8am shotgun start. Post-game lunch and presentations. Cost $150pp / $600 teams of four. Competitions, prizes and auctions throughout the day with all proceeds raised going towards HeartKids Victoria/Tasmania.
Sponsorship opportunities available, please contact firstname.lastname@example.org
for information. Book here
8th - 10th April 2016
TSAA National Camp
A Sport and Recreation camp at Point Wolstoncroft Sport and Recreation Centre organised through Tourette Syndrome Association of Australia. More info here
16th April 2016
Tread for SMA Challenge and SMA Open Day
Come along for a fun day of walking on the treadmill OR cycling for SMA! Now BOOKING 30 min spots ont he TREADMILL and SPIN BIKE! Get your sponsors on board and come along to have some fun!
From 10am - 6 pm. BBQ on the day, Kids activities, Open Day for the office: Spinal Muscular Atrophy Australia Inc. Unit 7 16-28 Melverton Drive, Hallam, Victoria, Australia 3803. Come and see where we now live and have fun with some fundraising for SMA.
Please contact Jo for a spot (30 min) on 9796 5744 or email@example.com
16th April 2016
Mito Information Day - Save the date!
The Australian Mitochondrial Disease Foundation (AMDF) are holding their first Mito Information Day for 2016 in Melbourne. The session will provide clinicians, patients and their family and friends with information about mitochondrial disease (mito).
The Royal Children's Hospital, 50 Flemington Rd, Parkville VIC 3052. To RSVP please contact Rebecca at firstname.lastname@example.org
17th April 2016
MND Classic Car Show fundraiser - Brighton
All proceeds go to the Susie Harris Memorial Fund. More information here
or see the flyer
22nd April 2016
Muscular Dystrophy research update- Geelong
Dr. Jason White Researcher at the National Muscular Dystrophy Research Centre will present on the 22nd April at the Geelong RSL. Presentation will include the latest information on clinical trials and advances in research into MD. For more info please contact MDA Client Services on 03 9320 9555 or send an email to Info@mda.org.au
11th May 2016
Muscular Dystrophy Australia Zoo day
Come visit the Melbourne Zoo, 10.30am to 5pm. Lunch will be provided, Companion cards required. RSVP to Georgia by Monday 2nd May – email@example.com
21st May 2016
Muscular Dystrophy Australia Scienceworks family day
10.30 am – 5pm A great family day for all, young and old. Companion cards required. RSVP to Georgia by Monday 9th May. Lunch will be provided rsvp – firstname.lastname@example.org
22nd May 2016
Worldwide 22q at the Zoo
Join thousands of 22q families worldwide to celebrate a fun-filled awareness day at zoos all over the world! #22qatthezoo
. In Victoria, the event will be held at Healesville Sanctuary, Badger Creek Road, Healesville VIC. Contact email@example.com
29th May 2016
Walk of Hope Sydney
Help the Children’s Tumour Foundation of Australia (NF Australia) raise $80,000 at the 2016 inaugural Walk of Hope.
Sunday 29 May 2016, Walk from 2pm to 5pm, Celebrations from 5pm to 7pm
Maroubra Beach to Bondi Beach
10km total in Sydney (3km option available, or double the distance by walking "There and Back")
$40 for children under 12, $60 for adults, $100 to walk "There and Back"
Fundraise $150+ to receive a CTF singlet to walk in and entry to the exclusive after-party (food included)! Join the #YellowPenguinArmy
for NF this May. See the website
for more details.
In the media
New breast cancer genetic changes found
Australian researchers have discovered 26 new genetic variants that increase the risk of different types of breast cancer, and may ultimately be used to better detect and respond to the diseases. Read more here
New research could help to predict risk of miscarriage
One in five pregnancies end up in a miscarriage, often occuring before a woman even realises she's pregnant, and most of the time (85%) miscarriage occurs in the first 12 weeks of pregnancy. A common question that many women who experience miscarriage have is "Why?" and "Will it happen to me again?". New work has found that some women have a womb lining that allows embryos that would not normally grow, due to genetic changes, to grow, but are then likely to miscarry. Read more here
Proposed NDIS changes
Minister for Social Services, Hon Christian Porter, discusses proposed changes to the NDIS and the NDIS Board with Radio National's Breakfast program host, Fran Kelly. See the transcript or listen here
Health premiums will rise in April
Health insurance premiums are set to rise this month, on average by more than three times the inflation rate. In response to this Consumers Health Forum are calling for reforms that will require funds to offer comprehensive, easy to compare policies, in order to qualify for the health insurance rebate. Read more here
Calls for reforms in the pathology industry
A recent report from the Grattan Institute shows that taxpayers and consumers are currently paying too much for pathology tests. The report recommends that Government could shift away from the current fee-for-service payment regime and call tenders for the right to participate in the market, stimulating greater price competition. This would be combined with the contracts that stipulate no co-payments bulk billing. Read more here
Huntington's disease drug trial
Huntington's disease is caused by a faulty huntingtin gene that damages the nerve cells in the brain so severely, it can lead to problems with movement, cognition, behaviour, and a reduced life span. A new drug developed in Canada, works by stopping the production of the faulty huntingtin protein, and has been shown to work in mice and monkeys, with no side effects. Human clinical studies are now underway, and the team are due to present their findings later this month. Read more here
4th - 6th May 2016
Mitochondrial Medicines: Developing New Treatments for Mitochondrial Disease Conference – Hinxton, UK
This conference will bring together world leaders in the field of translational mitochondrial medicine in an interactive programme designed to engage and inspire a new generation of mitochondrial researchers, who will harness this new technology to prevent and treat these devastating diseases. The meeting attracts international participants interested in mitochondrial diseases, working in molecular genetics, biochemistry, pathology, and clinical medicine. More info here
25th - 27th May 2016
International Clinical Cardiovascular Genetics Conference - Brisbane
This high calibre international scientific Conference will be a forum for the sharing of cutting edge research and showcasing clinical advancements in cardiovascular genetics. More info here
23rd - 24th September 2016
First Asia-Pacific Bone Disorder Symposium - Melbourne
This meeting will showcase the latest research in inherited bone disorders including new therapies, new management and new stem cell approaches to understanding these conditions. It is designed to attract a diverse group of researchers, clinicians, surgeons, and allied health workers. For more information please click here
MyTime groups connect you to the community, giving you insider information on what supports and services you can access. Find your local group today. More info here
Asthma Australia instructional videos
Asthma Australia has released a series of great videos to help people with asthma use their puffers correctly. Check them out here
NF Seminar transcripts
Transcripts from the NF1 for Adults Seminar held in Melbourne last November are now available for download
on the CTF website, with presenters including A/Professor David Amor from Victorian Clinical Genetics Services, Ms Michaela Cormack from Sunshine Hospital & Specialist Women's Ultrasound, and Mr Tony Penington from the Royal Children's Hospital & St Vincent's Hospital.
My Choice Matters
My Choice Matters offers useful resources and workshops to help people prepare for the new National Disability Insurance Scheme (NDIS) being rolled out across the country. Find information about eligibility, how to apply, and how the system works on the My Choice Matters website
DSF Dravet Family Network
Dravet Syndrome Foundation (DSF) is establishing a Dravet Family Network
. DSF want to identify as many families as possible and add them to a special directory that will help us connect families, as well as to update families about clinical trials, fundraising events or awareness activities in their area. Please fill out this brief survey
to be added to the network. Any questions about the network can be sent to firstname.lastname@example.org
Surveillance and management guidelines for Tuberous Sclerosis
Choosing Wisely Australia
Australia's peak colleges, societies and associations have developed lists of recommendations of the tests, treatments, and procedures that healthcare providers and consumers should question. Each recommendation is based on the best available evidence. See the website
2nd April 2016
World Autism Awareness Day 2016
are celebrating on Saturday 2 April by going colourful to represent the brilliant spectrum of people in the autism community! Join the celebration by wearing your brightest colours, making multi-coloured cupcakes and don't forget your badges! Make sure you share your photos on your social media accounts (Facebook, Instagram etc) with #coloursforautism
2nd - 9th April 2016
Walk for autism
are inviting everyone across Australia to sign up and join their mission of walking the length of the country's coastline. Wherever you are, walk with us towards our goal of 42,000,000 steps! With your help we will be able to celebrate the spectrum and raise awareness and money to support those on the autism spectrum. More info here
4th - 8th April 2016
Deaf Arts Easter Holiday Program 2016
Do you have a Deaf, HOH or CODA child aged between 9 – 16? Bring them to join us for a fun week long holiday program focusing on dance, theatre, drumming, circus and visual arts! Deaf and hard of hearing children are welcome to come along to join in the fun.
Monday 4 – Friday 8 April, 10am – 4pm. (morning and afternoon care available for an additional fee, 8.30am – 6.00pm).
St Martins Youth Arts Centre, 28 Martins Lane, South Yarra
$100 full / $75 concession
How to book
contact Mija Gwyn or Jo Dunbar at email@example.com
or via SMS at 0467 603 156
More info here
14th April 2016
Auslan 'Don't Stop Signin' Catch-Up
6:00pm - 8:00pm
The Fitzroy Beer Garden, 243 Gertrude St, Fitzroy
This is a casual, friendly, safe and informal catch-up open to anyone out there who LOVES Auslan! Everyone is welcome! Auslan students (past & present), Deaf people, hearing people, families, friends, housemates, train buddies, the possibilities are endless! Please use the form here
to RSVP to this exciting new event!
14th -17th April 2016
Riding for the Disabled Association Victoria Trail Ride
Join in for the 2016 RDAV Trail Ride through the beautiful Lerderderg State Park and camping at Bullengarook Reserve. It will be a weekend to remember!
• Fully catered for
• Great trail rides
• Entertainment, guest presenters and a variety of demonstrations all related to horses
• Auctions of donated goods
All of this while supporting RDA Victoria!
Arrive: Thursday 14 April
Rides: Friday 15, Saturday 16 and Sunday 17
Leave: Monday 18 April
For further information and registration forms
Alison Silcock Phone: 0427 882235 or Email: firstname.lastname@example.org
Olivia Greenwood Phone: 0429 469609 or Email: email@example.com
17th April 2016
Extended Families Community Fundraising Event
Ruffey Lake Park Templestowe. Extend yourself and support the Extended Families Community Walk to help improve the lives of young people living with disabilities. Join families, volunteers, staff and friends in a walk to raise important funds that will be used to deliver a new creative after school program ExtendABLE across all Melbourne regions. ExtendABLE provides school aged children with a disability the opportunity to try new recreational activities, develop skills and interests and make new friends in a supportive, fun environment. It builds skills and capacity to enhance community inclusion. We believe everyone should have the opportunity to extend themselves. Read more here
17th April 2016
Dogs Unite - Geelong
Dogs Unite is a sponsored dog walk. By attending Dogs Unite, your dog will become the hero for the day, helping to raise much needed money for their canine friends – the Guide Dog – who are the genuine heroes for blind and vision impaired people across Victoria. More info here
20th April & 20th May 2016
Better start early days workshops – Western suburbs
Still finding your way in the disability system? Is your child eligible for $12,000 in funding to assist with maximising their potential through therapy? The free Better Start Early Days Workshops will help you understand the funding and services available for young children with a disability.
Who is eligible to receive support under Better Start?
Eligible children are aged under six years and have been diagnosed with Cerebral palsy, Down syndrome, Fragile X syndrome, moderate or greater hearing or vision impairments, including deafblindness, Prader Willi, Williams, Angelmen, Kabuki, Smith-Magenis, CHARGE, Cornelia de Lange, Cri du Chat syndromes, Microcephaly or Rett’s Disorder.
Wed 20th Apr, 2016
ISIS Primary Care, Wyndham Vale Superclinic, 510 Ballan Road, Wyndham.
Fri 20th May, 2016 10:00am - 3:00pm
(focus on Cerebral palsy). Maribyrnong Community Centre, 9 Randall Street, Maribyrnong.
Registration and RSVP
Contact Person: Belinda Collins. Phone number: 0400 682 86. Email: firstname.lastname@example.org
Read more here
22nd April 2016
Let's talk about Mental Health
This FREE event provides information about Mental Health and other support services available to the Mornington Peninsula community. For all enquiries please contact Judy Anderson (Peninsula Health) Ph: 9238 8634
At 10.30 am listen to and be inspired by people’s real life experiences. Browse through the many stalls and receive information about Mental Health, Drug and Alcohol, Advocacy, Employment, Counselling, Respite & Housing Services. Refreshments will be available. More info here
30th April 2016
Walk 4 BrainLink
Walk 4 BrainLink aims to raise money and awareness to continue to support, celebrate and empower and to raise funds for people living with an Acquired Brain Injury or a Neurological Disorder. More info here
30th April 2016
Melbourne Autism Expo
The Melbourne Autism Expo 2016 (MAE 2016) is for anyone who is touched by Autism Spectrum Disorder (ASD). The Melbourne Autism Expo provides an opportunity for children, teenagers, families and adults to access useful, practical (and sometimes unusual!) information, products and services related to ASD. We also encourage teachers and extended family members to attend to learn more about ASD and how you can support those living with ASD. Find out more here
5th May - 9th of June 2016
Enabling Women in Gippsland Leadership Program
Enabling Women in Gippsland Leadership Program in Morwell, starting on Tuesday 5th May at 10:30am. The leadership program provides an opportunity for women with disabilities to come together, share their experience of disability, find solutions together to the problems they experience and that they see in their communities. Provided and delivered by women with disabilities, covering topics including getting to know you, the social model of disability, self-identity, human rights, communication, advocacy and leadership evolution. More info here
21st May 2016
Vascular Anomalies Family Information Day
This event will discuss the vascular birthmarks and malformation (lymphatic, venous and arteriovenous) clinical services at the Royal Children’s Hospital Vascular Anomalies Clinic and provide you with information on the most up-to-date on treatment of these conditions. We endeavour to address your concerns and answer any questions you have. See the flyer
for more info. RSVP: email@example.com
NDIS Information, Linkages and Capacity Building Framework
The NDIA is currently conducting consultation sessions to gain feedback on the draft of the Information, Linkages and Capacity Building (ILC) Commissioning Framework. The ILC allows the NDIS to finance supports or services not directly tied to a person through their Individual Funding Package. The Commissioning Framework outlines how the NDIA will fund and manage ILC activities in the future.
Children and Young People with Disability Australia (CYDA) encourages young people and families to attend a consultation session, scheduled to take place in major cities and regional centres throughout Australia.
Hobart – 30 March
Sydney – 6 and 7 April
Dubbo – 8 April
Melbourne – 11 April
Adelaide – 13 April
Brisbane – 18 April
Townsville – 20 April
Alternatively, you can make a submission by using the feedback form available at http://goo.gl/PXjUkU
and emailing it to ILC@ndis.gov.au
. Submissions can be of any length and often a paragraph or two which describes an event or circumstance can be very powerful. Others may wish to make lengthier submissions which would also be well received.
You are also welcome to contact CYDA
to discuss any aspect of the ILC Commissioning Framework. The draft of the Commissioning Framework is available at http://goo.gl/wL6rCp
. More information about the how to register for the consultation sessions is available at http://goo.gl/PXjUkU
Primary Ciliary Dyskinesia registry
PCD is a rare disorder of mucociliary clearance caused by defective hair like organelles (cilia). The purpose of the PCD Patient Registry is to measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-centre trials. More info here
AutismCRC's aim is to develop an accurate, standardised and consistent protocol to assist in earlier diagnosis but we need your help! If you're a clinician involved in autism diagnosis, please visit the website
to find out more about participating.
Experiences of carers living in NSW
Carers NSW is conducting a survey on the experiences of carers living in NSW. If you are over 16 you are invited to complete the survey. The results will be used as part of a study identifying and highlighting the strength and challenges faced by carers. Find out more here
Carer research project
Researchers at Institute for Health and Ageing are exploring the physical activity and mental wellbeing of older carers. Participants complete a 15-minute questionnaire and enter a draw to win a $100 Coles gift card. Complete the questionnaire online at www.tinyurl.com/carersurvey
or request a paper copy by calling 0411 098 286.
CYDA national survey
Children and Young People with Disability Australia (CYDA) is the national representative organisation for children and young people with disability aged 0 to 25 years. CYDA is again conducting a national survey
to gain information about school experiences of students with disability and to learn more about what support is being provided.
CYDA strongly urges young people with disability and families to participate. The information obtained provides us with important information about the direct experiences of students with disability which we can then provide to government and other stakeholders to progress much needed reform.
For further information or assistance with completing the survey please contact
CYDA. Please provide your email address, where indicated if you would like to receive a copy of the survey results. The survey is available 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.
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Ehlers-Danlos syndrome coexisting with Lynch syndrome
- Hajdu Cheney syndrome
- Hay-Wells syndrome/ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.
- Hereditary Spysiotosis with Iga Nephrophy
- Megalencephaly Capillary Malformation (MCAP) syndrome
- Milroy disease
- Moebius Syndrome
- Pantothenate Kinase-associated Neurodegeneration
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- 4q34 deletion
- 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 firstname.lastname@example.org
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.