- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
I remember that even before I became formally associated with the GSNV, that I knew of Louisa Di Pietro. No-one mentioned the GSNV without talking about Louisa, now I believe that organisations are the sum of the people in them so how had one person captured the heart and soul of all the GSNV stands for. It didn’t take me long to find out!
The GSNV is so proud of Louisa and celebrates her well-deserved recognition!
At the recent Victorian Disability Awards Louisa was included on the Lifetime Achievement Honour Roll
. The Honour Roll recognises exceptional individuals who have made a significant contribution over the past 20 years and demonstrated an outstanding commitment to the rights, participation and inclusion of Victorians with a disability.
This sums up Louisa well although I’d like to recognise as well her even broader reach and commitment to make the world a better place – our communities more inclusive, creating more opportunities where people feel empowered and driving positive change and choice. For Louisa it has never been about Louisa, its always been about what outcomes can be achieved – by individuals, by communities through partnerships and collaboration.
August marked Louisa’s return to work at GSNV and we are delighted to have her back.
Another lesson that Louisa has taught me in my time at the GSNV is the importance of resilience yet also being able to say ‘enough is enough’. A reminder that unless you take care of yourself, the people you serve, your organisation then your ability to contribute is not sustainable. This is often a difficult lesson for people in not-for-profits and support groups because we are driven by our passions and commitment. Our Supporting the Supporters Network has started talking about the impact of our work on our lives and how to find balance to remain a contributor – an important conversation and I’ll keep you posted. We intend to explore when enough is enough and what to do about it! We’d love you to join the conversation.
Speaking of conversation, we are very excited at GSNV to launch our closed members Facebook group this month. This group will provide the opportunity for private discussion, sharing of experience, achievements, frustrations and ideas as well as support for each other. We will also participate in the group as active member as well as administrate for the group. All GSNV members from support groups are welcome to join and access will be through the Supporting the Supporters Network. If you’d like to know more please contact email@example.com
We are also really pleased to let you know that we have some more volunteers to make available to assist you so please let me know at firstname.lastname@example.org
if you have a task, event, activity that our volunteers can assist with.
I’d also like to direct your attention to the link that appears later in this publication for access to provide feedback to the Federal Government regarding the implementation of the NDIS. If that’s relevant to you or people you care about, please take the time to provide feedback regarding your experience. Every voice is important.
I hope you’ve managed to keep warm over the winter and are looking forward to the new beginnings of spring.
We’ll talk soon.
Support group news
GSNV Peer Support Training
We are looking to run our next day long peer support training session for all individuals, including support group members in November. This course will help you feel empowered to listen and talk to others who are in a similar position, and share your wisdom and experience. Please send in your expressions of interest to email@example.com
. The training course is free of charge for GSNV members and $50 for non-members.
The group is located in Caulfield South. Some assistance with transport may be available.
14th September 2017
Muscular Dystrophy Australia (MDA) Soup ’n Bingo
Come and join MDA for a few hours of friendship, hot homemade soup and a game of Bingo. (No charge – carers also welcome). From 11.30 - 2.30 at MDA 111 Boundary Rd North Melbourne. RSVP by 11 September by calling MDA (9320 9555) or email firstname.lastname@example.org
21st September 2017
Facioscapulohumeral Muscular Dystrophy (FSHD) Global Annual Science Week Melbourne Patient Seminar
The Foundation is gathering world-class scientists and clinicians to meet with the FSHD community in Australia and New Zealand. This is your invitation to hear what research is happening, to share your stories about living with FSHD, and to make connections with clinicians and support networks.
One of the most important aspects of research is telling people about it. The researchers the Foundation fund lead the world in FSHD basic, therapeutic and diagnostic investigation. The Annual Science Week is your chance to hear what they have achieved with FSHD Global funding, and what this means for progress into treatments and an ultimate cure for FSHD.
meeting will be held at the Novotel on Collins. Find out more and register here
21st September 2017
Mitochondrial Donation Symposium
As part of Global Mitochondrial Disease Awareness Week, the annual Australian Mitochondrial Disease Foundation (AMDF) Symposium is an opportunity for researchers, health care professionals, patients, and their families to come together and learn about the latest updates in mitochondrial disease research, treatments, and diagnosis.The Symposium will be focused on mitochondrial donation, a ground-breaking IVF technique that could prevent the transmission of mitochondrial disease from an affected mother to her future children. Venue:
Monash Conference Centre, Level 7, 30 Collins St, Melbourne. Time: TBD. Speakers will include Professor David Thorburn, Theme Director of Genetics and Group Leader of Mitochondrial Research at the Murdoch Childrens Research Institute, with more speakers to be announced. The Symposium is a free event. Email email@example.com
22nd - 24th September 2017
HeartKids Family Camp
Your family is invited to register
your interest in attending a relaxed and fun weekend at Candlebark Farm
, Healesville. At this camp, you and your family will be able to meet other HeartKids families. There will be child care for young children who want to be entertained while the rest of the family undertake some of the outdoor activities. Heart angel families are most welcome as well as families with heart children.
6th - 8th October 2017
Metabolic Dietary Disorders Association (MDDA) family retreat - Kalorama
MDDA retreats are designed to be relaxed weekends away to get to know and enjoy the company of other families and members of the MDDA. The retreats will provide an invaluable opportunity for people with inborn errors of metabolism and their families to meet in a social environment and build positive relationships with other members of the MDDA community. The CountryPlace Conference Centre is an impressive venue and will set the scene for a perfect weekend away for the whole family. More details here
7th October 2017
Alpha Meet Up - Melbourne
Come along and meet others with alpha-1 antitrypsin deficiency. This is a casual and social meeting for a drink and a chat. Everyone welcome - alphas, their families and friends. For information email Jenni on firstname.lastname@example.org
or phone 0407 334 107.
Meet at 2pm, Grill'd Camberwell 879 Burke Rd 3124 Camberwell, Victoria
13th - 14th October 2017
Fanconi Anaemia family meeting
Registration is now open for the Fanconi Anaemia Family meeting in Melbourne (October 13-14, 2017). It is essential to register for the event for planning purposes, even though it is free to attend. More info here
In the media
Gene editing update
Gene editing has been in the news for a while now. When it first came out we published an article in our newsletter
that outlines the technology, the technical limitations and some ethical implications. A new research study was published in the journal Nature in August that showed they were able to use the technology in human embryos where they were able to avert two of the important safety problems of this technology. They were able to produce embryos in which all cells (not just some) were mutation-free, and they avoided creating unwanted extra mutations by taking advantage of a previously unknown mechanism by which embryos repair themselves. They found that when the gene editing machinery (CRISPR-Cas9) was injected along with sperm carrying a genetic fault into an unfertilised egg, that the sperm's faulty genetic material was ignored, and instead the healthy DNA sequence from the egg cell was copied in its place. The researchers were able to achieve a high yield of completely repaired embryos without evidence of any extra unwanted mutations. This means that couples using pre-implantation genetic diagnosis to screen IVF embryos at fertility clinics could use this technology to ensure that more disease-free embryos would be available for implantation. Read more here
, and find the Nature article here
. Also see this opinion piece about gene editing and designer babies here
Genetic testing for diagnosing cerebral palsy
Genetic researchers in Canada genotyped patients with the most common type of cerebral palsy, as well as their parents, and then compared the genetic variations they found in this cohort to those in a population-based sample. The researchers found specific genetic variants in their patients. Overall, they estimated that they were a factor in slightly more than 20 percent of patients with the type of cerebral palsy studied. The authors argue
that genetic testing should be a standard part of diagnosing cerebral palsy because about 10 percent of those diagnosed with cerebral palsy might have a different condition, and genetic testing may be helpful to confirm a diagnosis. For researchers, it also offers new directions for research aimed at preventing and treating the condition. Read the Nature article here
New cystic fibrosis treatment
Cystic Fibrosis (CF) affects the lungs and digestive system because of a malfunction in the production of saliva, sweat, tears and mucus. There is currently no cure. People with CF develop an abnormal amount of excessively thick and sticky mucus within the lungs, airways and the digestive system. The mucus causes impairment of the digestive functions of the pancreas and traps bacteria in the lungs resulting in recurrent infections which lead to irreversible damage. Lung failure is the major cause of death for someone with CF. From birth, a person with CF needs to undergo constant medical treatments and physiotherapy. Source
. CF is caused by having mutations in both copies of the cystic fibrosis transmembrane conductance regulator protein (CFTR) gene. The CFTR protein is active in cells lining certain organs, including the lungs. In people with CF, the protein does not work correctly or is missing, causing salt and water imbalances. That's one reason why a patient's mucus gets so thick. Results of a recent trial have shown that a drug combination of lumacaftor and ivacaftor, helps reduce the amount of lung-clogging mucus in children aged six to 11. Read more here
, the baby whose fate was the subject of a protracted court battle and made headlines around the world, passed away on the 28th of July, four days after withdrawal of intensive medical treatment. Charlie was born with mitochondrial DNA depletion syndrome (MDDS), a rare genetic disorder that causes progressive brain damage and muscle failure. His parents fought a five-month campaign to have him transferred from Great Ormond Street hospital (London, UK), where he was on life support, to allow them to take their son to the U.S. for an experimental therapy. However, Mr Justice Francis ruled in April that Charlie’s life support should be withdrawn and that he be allowed to ‘die in dignity’ while blocking any attempt to take him overseas. This case has incited passionate debate over his right to live or die, his parents' right to choose for their child and whether his doctors had an obligation to intervene in his care. Read more here
6th - 7th September 2017
Disability Employment Australia Conference 2017: The future is what we make it
This conference is Australasia’s premier conference for managers, practitioners, and academics working in or with the Disability Employment Services sector. This year’s conference will examine the future of disability employment and the new DES program. The conference will be guided by four themes. These themes are choice and control, competition and contestability, employer engagement, and service quality. More info here
Fabry Australia would like to invite interested members to our annual patient face to face meeting in September 2017. The Conference will include speakers from different areas of the Fabry community including medical Fabry experts from Fabry Centres of Excellence in both adults and paediatrics with the idea of bringing newly diagnosed patients together to gain valuable information and support. The Conference will be held at Novotel, St Kilda, Victoria. Focus will be on bringing newly diagnosed patients together with other patients to share experiences. The speakers will be focussing on many areas of living with Fabry from supporting care givers to how to navigate the medical system with a new diagnosis through to any new treatments that are being developed. To keep up to date with how the conference details are progressing please follow the Fabry Conference link
15th September 2017
Strengthening Disability Advocacy Conference - Melbourne
Getting into gear for the NDIS journey
will feature a keynote address and facilitated panel discussions looking back on the journey so far, how well the principles of choice and control are being embedded in NDIS policy and processes and what road blocks to avoid on the road ahead. This conference is for anyone who is interested in strengthening and upholding the rights of people with disability. Find out more here
4th - 6th October 2017
World Congress on Genetic Counselling - UK
Advances in genomic sequencing technology are promising a revolution in how diseases are diagnosed and treated. Understanding how these advances are managed and communicated to patients, families and wider society will benefit from empirical genetic counselling research. This new conference will provide a forum that facilitates active engagement between international researchers and practitioners to explore the evidence that guides genetic counselling and the communication of genetics in mainstream medicine, thereby enhancing clinical practice. More info here
20th October 2017
2017 Inaugural NF Clinical Symposium - Sydney
The Children’s Tumour Foundation along with Whiteley Medical, is proud to announce the Inaugural Neurofibromatosis Symposium in Australia, to be held in Sydney on 20 October 2017. This event is being held specifically to enable the development of a more cohesive approach by clinical specialists to NF in Australia. This meeting will allow the various clinical specialties to dialogue over the latest research and clinical recommendations of treatment for Neurofibromatosis (NF). It is anticipated that this will become a regular event on the NF calendar. Read more here
Blindness no Barrier podcast
A nine part series of interviews covering the remarkable life of David Blyth, with a particular focus on his role in developing advocacy services for people who are blind and vision impaired. Listen here
New website for young carers
A young carer is someone under the age of 25 who cares for a family member with disability or illness, often juggling school and study with their care requirements. Young carers can feel alone and misunderstood by their teachers and peers. To combat this, Carers Australia has launched a new website for young carers, www.youngcarers.net.au
. The website includes stories, information and tips for young carers, and also resources for educators, parents and medical practitioners.
Antenatal and Postnatal Anxiety booklet
Pregnancy and early parenthood trigger a wide range of emotions. During pregnancy (the antenatal period) and in the year following childbirth (the postnatal period), it can sometimes be difficult to know whether your feelings of stress, worry, and anxiety are normal, or whether you are experiencing symptoms of an anxiety disorder. This booklet
aims to help you recognise the possible signs of anxiety so you can take steps to potentially alleviate these or to seek help early if you already have anxiety symptoms or are worried about your risk factors. It also gives an overview of what anxiety is and the different types of anxiety disorders. This booklet provides suggestions about where you can go for help, as well as evidence-based information about diagnosis and recovery, treatment and support options. In addition, it includes a directory of trusted websites you can visit to find out more about anxiety.
NDIS housing options guide
explains how to work out whether you need an Exploring Housing Options Package (EHOP) in your NDIS Plan, how to go about getting an EHOP and how to make the most of an EHOP if you have one. This guide forms part of a series of information resources that the Summer Foundation
has prepared about accessing housing; it is designed for younger people in nursing homes, their families and supporters, NDIS support coordinators and providers.
'Smith-Magenis Syndrome: See Me Shine' Short Awareness Film
This short informational video
, was filmed and produced by a local Australian (VIC) family, in cooperation with SMS Australia, to foster greater awareness of Smith-Magenis Syndrome
Mito Warrior game
Mito Warrior is an outer space adventure game developed by Stealth BT. The game is designed to teach people about the role that mitochondria play in the body, and how damage to the mitochondria through genetic diseases such as mito, and the process of ageing changes the way mitochondria function. Read more here
Cancer Support Groups Program Project Grants
Applications for the Cancer Council's Support Groups Project Grants are now open. There are four grants of $1,000 to award to successful entries. The application form can be found here
. Please have a read of the entry criteria and, after discussion with your group, consider making an application. The Project grants are designed to allow you and your group to implement a great idea you might have for contributing to, or enhancing links with, your local cancer community, providing access to new experiences or education for your group, or other great projects. Maybe you have wanted to run an information forum about wellness, or maybe you think it would be good to run an art therapy day. The closing date is COB Thursday 15th September, 2017. Please contact Briony if you need any help with your application. She is happy to answer questions. You can reach her on (03) 9514 6332 or email@example.com
Pain Awareness Month
Pain Awareness Month, an initiative of a coalition of organisations under the umbrella of Partners for Understanding Pain and spearheaded by the American Chronic Pain Association, is expanding its reach around the globe this September. Find out more here
6th September 2017
NDIS Plan Management 101
Understand the basics of NDIS Plan Management, know the opportunities and risks. Plan Management is a fabulous option for participants wanting to maximise the flexibility of their NDIS funds without the administrative burden of self management. In this workshop we take a look at what’s involved in plan management from go to whoa, and what you’ll need to consider in offering it as a service to participants. Find out more here
7th September 2017
Family-centred and Strengths-based Practice workshop
This workshop is part of the Best Practices in Early Childhood Intervention Professional Development Program, a strength based, comprehensive and innovative training package that has been endorsed by an Expert Advisory Group and is consistent with the recently released NDIS Early Childhood Early Intervention (ECEI) approach. Find out more here
11th September 2017
Medical Cannabis for Patients and Carers information session
Medicinal cannabis was legalised in Australia in November 2016. There is good clinical evidence that it may be of benefit in chronic pain, MS, intractable epilepsy and nausea in cancer related chemotherapy. Come and learn how your medical condition may be treated by medical cannabis. Further details here
14th September 2017
Defiant Lives movie screening
Defiant Lives introduces the world to the most impressive activists you’ve never heard of and tells the story of the rise and fight of the disability rights movement in the United States, Britain and Australia. Featuring exclusive interviews with elders who’ve led the movement over the past five decades, the film weaves together never-before-seen archival footage with the often-confronting personal stories of disabled men and women as they moved from being warehoused in institutions to fighting for independence and control over their lives. Defiant Lives is a triumphant film full of extraordinary characters who put their lives on the line to create a better and very different world where everyone regardless of impairment is valued and can participate. This event is part of the Strengthening Disability Advocacy Conference 2017: Gearing up for the NDIS journey. Find out more here
17th - 23rd September 2017
Global Mitochondrial Disease Awareness Week
Global Mitochondrial Disease Awareness Week is a week marked with educational, fundraising and advocacy efforts designed to raise awareness about mitochondrial disease (mito). For the second year, #Lightupformito
, will run. The event will see monuments around the world lit up green to raise awareness. This year, the event will attempt to break the world record for the most monuments lit up in a 24 hour period. On 16 September, the following Australian monuments will be lit up for #lightupformito:
Darling Quarter (NSW)
Telstra Tower on Black Mountain (ACT)
Old Parliament House (ACT)
Perth Council House (WA)
Deakin University (VIC)
The Drum Theatre (VIC)
You can be a part of the world record attempt and raise awareness about mito by getting involved. If you can help secure a monument to be lit up in your area, contact firstname.lastname@example.org
or see the website
Deakin University - Quality of Life Research in Dementia
Deakin University are looking for participants in a focus group on the Quality of Life in Dementia. The aim of this research focus group is to discuss the appropriateness of questionnaires that are used to assess the quality of life in individuals living with dementia. The focus group will last 60 - 90 minutes. Participation in this study is voluntary and all responses will be kept confidential. All participants will be compensated for their travel and time.
Who can participate?
Individuals with dementia who have been diagnosed with mild dementia and aged 60 and older and are able to speak and read English. Carer givers who provide unpaged care to a family member or a friend who has dementia (mild, moderate or severe), aged 18 and older and are able to speak and read English. For more information download the flyer
. For any questions contact Lidia Engel or Jessica Bucholc on 03 924 68573 or via email
Pain Awareness Project - Scope Research Australia
Are you a parent or carer of an adult who has a health condition associated with pain or has a severe or profound level of intellectual disability as defined by at least four of five qualities? (Absence of speech, major sensory impairment, severe problems with movement, dependence on others to meet basic daily needs, apparent lack of engagement with the environment).
This project run by Scope Research involves learning how to identify pain in people with intellectual disability. Participants will attend an education session about pain and will trial a pain checklist. Participation is voluntary and anonymous. For further information or if you have any queries please contact Scope Research on 03 9843 300 or email
Recruiting Mental Health Peer Support Group Facilitators – Deakin University
The School of Social Work Deakin University are recruiting mental health peer support group facilitators with a lived experience of mental illness and are in recovery. Eligible candidates are being invited to participate in semi-structured qualitative interviews to explore the impacts mental health peer support groups on social engagement and community connection. The interviews will take about an hour to complete and can take be undertaken at a place of your choice.
For more information call David Turnbull, Student Researcher on 0448 115 492 or email
or call Russell Shuttleworth, Research Supervisor on 03 5227 8433 or email
General Issues Around the Implementation and Performance of the NDIS – Parliament of Australia
The joint Standing Committee on the National Disability Insurance Scheme welcomes submissions and information from participants, their carers and family members, as well as service providers and registered plan management providers on the implementation and operation of the NDIS. The committee wants to understand the process that people with disability go through to become Scheme participants, and how they have received and used their package of supports. The committee is also interested to know how service providers are finding the transition to the new scheme. Find out more here
Have you been diagnosed with Fabry Disease?
Researchers at The Royal Melbourne Hospital are investigating several new treatments to specifically treat Fabry disease, as well as additional studies to document and monitor the manifestations of disease beyond basic medical care. Below are some of the studies currently underway:
- Disease registries, in which patients allow their clinical information to be anonymously added to international Fabry registries
- Randomised clinical trials of new treatments for Fabry disease
- Small local studies aimed at better defining and managing the problems of living with Fabry disease
For more information Quote reference 'FabryTrials'
Donna North 03 9342 4219 or email@example.com
Elizabeth Centra 03 9342 4219 or firstname.lastname@example.org
Parental hopes, fears and beliefs about clinical trials for children with rare genetic disorders and autism
The purpose of this study is to find out what parents feel are the most important outcomes from clinical trials done for children with rare genetic disorders and autism and what parent’s beliefs, hopes and fears are with such clinical trials. Find out more here
Community and Health Consumer Survey
CareSearch wants to understand Australians' views on death, dying and palliative care - take the survey 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.
- 4q34 deletion
- Autosomal Dominant Osteopetrosis
- Beckwith-Wiedemann syndrome
- Cat Eye Syndrome/Schmid Fraccaro Syndrome
- 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
- Megalencephaly Capillary Malformation (MCAP) syndrome
- Milroy disease
- Mitchell's disease (Erythromelalgia)
- Moebius Syndrome
- Neutral lipid storage myopathy
- Pantothenate Kinase-associated Neurodegeneration
- Peutz-Jeghers syndrome
- Potocki-Schaffer syndrome
- Renpenning syndrome
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- TRAPPC9 assoicated intellectual disability
- 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 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.