- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
I hope you’ve managed to survive the cold and chills of the last month and are feeling the warmth and thawing out of spring which finally seems to have arrived.
Sometimes it feels like we spend forever waiting on things to happen, for winter to end and the sunshine to appear. We make detailed plans, lay a strong foundation and develop support, and still with our best intentions and efforts it still seems to take forever.
I learnt a lesson recently I’d like to share where I had completed all this work in my head – I’d lived with my plans and thoughts for months, developed a real enthusiasm and energy for the anticipated outcomes, only to discover that there was one huge flaw in my best intentions. I hadn’t brought anyone along on the journey with me. People needed the foundation to be able to build their ideas upon, the time to gather their thoughts and to feel, the enthusiasm and energy that I do. So I’ve gone back to drawing board – engaging people through small steps while keeping the destination still firmly fixed in my mind. It really does take a team approach.
Its easy to get disillusioned at these times, to find yourself exploring all the reasons why something didn’t happen or won’t happen. I’ve chosen to focus on the outcome, re-confirmed for myself that it is every bit as critical and important as it was when I first started thinking about it – important enough to step back and plan small steps that engage and include everyone. It may take longer, it may be more difficult but it will be achieved and that makes it worth it. Even more worth it, is that it will be achieved together, a combined effort with a much more significant and broad impact.
In this time of new beginnings and spring cleaning, this reflection reminds me to clean out the old ideas that aren’t working and find new ways to achieve the same objectives.
This newsletter is filled with amazing people doing extraordinary things by finding a new way and bringing people along, communicating and engaging. So with a rethink and this for inspiration I’m looking forward to the new season.
If you would like to begin something new too, the GSNV Committee of Management is seeking new Board members to provide governance oversight and guidance for the GSNV.
The Committee of Management is critical to the ongoing successful operation of the GSNV and sets the strategic tone, provides leadership to ensure the achievements of objectives and supports innovation in adapting to changing environments. Our Committee is a forum of critical inquiry into the overall health of the organisation, with a focus on risks, accountability and performance.
If you would like to assist us as a member of our Committee of Management, please forward your CV. Feel free to contact me for or our Secretary Anna Jarmolowicz on firstname.lastname@example.org
for further information.
As we are coming to the close of the year, the GSNV will commence our planning process for 2018. We’d welcome your feedback on what you would like us to do more of, how we could assist people with genetic conditions and those who support them with more impact and where you feel our resources would be most effectively directed. I’d welcome an email from you on email@example.com
Embrace the new season, we look forward to hearing abut your successes.
Support group news
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
8th October 2017
Tuberous Sclerosis Australia (TSA) - Information Day
You are invited to join Tuberous Sclerosis Australia at their Melbourne Information Day, an event for people with TSC and their families. This is an important educational event for people with tuberous sclerosis complex (TSC) and their families. The event will include TSC expert speakers, a chance to meet others living with TSC and the presentation of the 2016 and 2017 Elizabeth Pinkerton Memorial Award
The Royal Children’s Hospital, Parkville
Registration from 8:30am for 9am start. The day will conclude at 3:30pm.
An informal dinner will be held on Saturday 7 October from 6:30pm at The Albion Hotel, 171 Curzon St, North Melbourne.
Limited travel funding is still available for people with TSC to attend the meeting along with a carer or family member.
To register visit the website
12th October 2017
An affair to remember- 4P Aussie Kidz 3rd Annual Gala Fund raiser
Hosted by Russell Roberston
Join us for an unforgettable evening over a 3 course meal, with an array of silent and and live auction items, and unrivaled entertainment! When: Saturday 12th October 6.30pm - 11.30pm. Where: Southern Golf Club, Lower Dandenong Road, Keysborough Dress: A little bit fancy (No denim please). For further infomation email email@example.com
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
13th - 15th October 2017
AISSGA national intersex support conference
This conference is FREE for AISSGA members
from around the country and open to all people with variations of sex characteristics and their families. This year AISSGA (The Androgen Insensitivity Syndrome (AIS) Support Group Australia Inc) are holding a special retreat style conference near the beautiful Daylesford, just 1.5 hours from Melbourne. A free shuttle service from Melbourne CBD and Airport will be available and accommodation is provided. Due to the intimate setting of the retreat, numbers are limited so please RSVP soon. Registration closes Monday 2 October. Find out more here
12th November 2017
Melbourne CAHSGA Picnic
11.30am at the Oaks Picnic Area
Jells Park, Ferntree Gully Road, Wheelers Hill BYO: Picnic lunch and chairs
Kellie Clay on 0409 004 274
CAHSGA will set up at Oaks Picnic Area (see map
), so from a driving perspective you want to enter the park from Ferntree Gully Road, at the South Entrance. If they are unsuccessful at gaining a picnic shelter they will set up the camping shade tent and picnic table. Look out for Blue Balloons. If the weather is against us, an alternative venue is the Wheelers Hill Hotel, Cnr Ferntree Gully Road & Jells Road, which is just down from the park. Please rsvp to firstname.lastname@example.org
and please include a mobile number for contact just in case. Any further queries please don’t hesitate to email or call on 0409 004 274.
19th November 2017
SWAN Family Christmas Party
Meet at the Big Goose, 233 Mornington-Tyabb Rd, Moorooduc VIC. Bring the whole family along to the Big Goose and enjoy feeding the animals, tractor rides, sheep dog show, reptile show, spit roast lunch (with kid friendly food) and a special guest. Lunch served at 12.00pm. BYO present for Santa to give your child/children.
or text Heather 0404 280 441 by Friday, 10 November
21st November 2017
GSNV peer support training
Professional counsellors are helpful, but there is nothing more powerful than talking to someone who has been "in the same boat" as you. Peer Support Training is available for all individuals, including staff from support groups. It is a one day workshop and our aim is to help you feel empowered to listen and talk with others who are in a similar position, and share your wisdom and experience. Training is free for GSNV members. Find out how to become a member here
. Please RSVP to email@example.com
. Find out more here
In the media
Gene editing update
Ask the Doctor is a new factual series on ABC TV. This episode
tells the story of young Alan, a boy whose life-threatening immune disorder has been held at bay through the power of genomic information generated and analysed at the Garvan in Sydney. Presenter Renee Lim describes how genome sequencing led to a diagnosis for Alan, and to a change in treatment that has transformed his health. In addition, presenter Shalin Naik chose to have his own genome sequenced and analysed with the help of Genome.One. Shalin enrolled in a Genome.One pilot study focusing on whole genome sequencing for healthy individuals. He spoke with Associate Professor Marcel Dinger (who leads Genome.One) and with Mary-Anne Young (genetic counsellor and head of clinical services, Genome.One) as he grappled with the science of genome sequencing and the personal and ethical implications of genomic information. Shalin concluded that his own experience with genome sequencing was ‘remarkable’, but recognised that genome sequencing requires informed decision-making and might not be for everyone. Source
Autism genetic finding
A new study analysing more than 8,000 genomes has found that mosaic genetic changes (mutations that appear in only some of the body’s cells) contribute to autism in about 4 percent of people with the condition. The researchers also found that in some people with autism, these mosaic mutations are also present in some of their parents’ blood cells. This means for these families, the risk of re-occurrence maybe higher than previously thought. Read more here
Osteoporosis genetic findings
Research analysing the genomes of 140,000 individuals have identified 153 new gene variants associated with the loss of bone mineral density, which often result in fractures. One strongly implicated gene GPC6 is of particular interest because it encodes a protein that is present on the surface of cells, making it a potential candidate for a drug target. The results could also be used to develop screening programs in the future to identify individuals who would benefit most from preventive measures. Read more here
Implications of genetic testing on life insurance
A recent parliamentary inquiry into Australia's life insurance industry, has raised several issues. Currently insurance companies are allowed to use genetic test results to discriminate against applicants for life, permanent disability, and income protection insurance (which all come under the life-insurance product category), with little independent oversight or consumer transparency. Australian insurers can also increase premiums, exclude insurance cover for certain conditions such as cancer, or refuse insurance cover altogether purely based on your genetic test results. Under Australian law, life insurance applicants must disclose any known genetic test results if requested by the insurer. This includes results from approved clinical genetic tests, but also less reliable findings from research or direct-to-consumer (DTC) genetic tests, if they are known to the applicant. This may deter some people from having testing or participating in research because they fear unknown insurance implications, potentially missing out on information that could prove useful for their future health and/or scientific understanding of diseases. Read 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
12th - 14th October 2017
Haemophilia Conference Melbourne
HFV is please to announce a limited number of financial subsidies that have been made available to assist their members to attend the 2017 National Conference. The conference brings together people with bleeding disorders and their families and carers, as well as health professionals, policy makers and industry. It is a great opportunity to learn, discuss and to plan for the future. Find out more 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
Cantú syndrome registry
There is an international registry for Cantú syndrome, and we are trying to enter as many patients from Australia and New Zealand as possible. If you have patients who may be willing to take part, please email me at firstname.lastname@example.org
or Samantha Mason at Samantha.email@example.com
. Taking part involves a parent (or the patient, if an adult and able to participate) spending about an hour on the phone with Samantha. If possible we would be grateful for information on the specific ABCC9 or KCNJ8 variant in the family (if any).
NDIS plan review resources
Plan reviews are a normal part of the NDIS. When you become a participant in the NDIS, you will receive a plan which funds reasonable and necessary supports that assist you in your daily living. This plan also helps you achieve your personal goals such as increasing your independence or learning a new skill. Your plan review is the opportunity to check your supports are working for you and are helping you to progress and achieve your goals. It is expected that your first plan review will take place after your first 12 months in the Scheme. These documents
will help you to understand and prepare for your plan review.
Cri du Chat Syndrome Information for Professionals
This information has been developed for the Cri du Chat Support Group of Australia Inc. by the volunteer program of the Genetic Support Network of Victoria. Please click here
to access the booklet.
Map your future program
Are you 19 – 25 years old? Do you have a disability? Would you like to practice speaking up for what YOU want? If so, you should think about joining Map Your Future! Map Your Future is a trial program run by Youth Disability Advocacy Service (YDAS). You will talk about learning, being involved in different activities, getting a job, moving out of home and much more. You will also get a Certificate of Completion for finishing the program. For further information or for an Expression of Interest form please contact Luke David on firstname.lastname@example.org
or (03) 9267 3703.
Talking to children about genetic conditions
We have complied a list of resources
that parents can use to help explain genetics and genetic conditions to their children in an age appropriate manner.
15th October 2017
Young Carers Festival
For the fourth year Little Dreamers is celebrating the contribution of all Young Carers and Special Siblings in the community with the Young Carers Festival! Young carers and their families can enjoy a completely FREE well deserved fun-filled, care-free day of activities that will make you jump for joy (much as last years did with the awesome bouncy castle), food to go nuts over (yes, pun intended) and much more.
The responsibility that comes along with being a Young Carer can at times be overwhelming, when caring for others it's important to remember not to neglect your own health. Part of maintaining a good mental health is having an outlet, taking a day to do something that makes you happy and brings you together with others. Make that day the 15th of October and head down with the whole family to the Young Carers Festival!
We would love community groups to bring buses or groups down and enjoy this free day out to celebrate young carers and their families with us.
The important details:
Sunday 15th October
11am - 3pm
cnr Wellington Pde and Landsdowne St, Melbourne
21st October 2017 (starting on)
How do I handle my child’s acquired facial disfigurement? course
This course is being run by Karibu Anawim. Established in 2015, Karibu Anawim aims to train, equip and nurture people living with facial disfigurement. This course brings you face to face with the challenges most people would never think about through acquired facial disfigurement. Parents, learn how to navigate the many challenges that lay ahead for your child, siblings and others including yourself. This 6 week course is tailored to provide practical insight into the issues relating to living with an acquired facial disfigurement. See the flyer
for more information.
23rd October 2017
Hume Disability Expo
Hume Global Learning Centre – Broadmeadows
1093 Pascoe Vale Road, Broadmeadows 3047
Christine Scott, Event Coordinator
With over 60 exhibitors offering a range of support services for all ages, information sessions and workshops, you will also hear all about the National Disability Insurance Scheme and what it means to people with a disability, their families and carers.
29th October 2017
Christine Scott from VALID will be providing valuable information on NDIS. Even if you have been to a session before, there are always new facts and information to pick up. Christine is a wealth of knowledge and has been involved in the Barwon trial site for the last four years.
Spina Bifida Foundation Victoria invite you to come along:
: Hayden Raysmith Room, Level 4, Ross House, 247 Flinders Lane, Melbourne 3000
: 2.00pm followed by afternoon tea.
: Email Michele Cutajar on email@example.com
31st October 2017
Running Successful Focus Groups and In-depth
Interviews for Project Evaluation workshop
The Chronic Illness Alliance is holding a workshop covering a hands-on introduction to qualitative methods to use in evaluation of programs and projects. Good evaluation helps to get results published and can be used to provide evidence for further funding proposals. Find out more here
Incidental findings qualitative study
Researchers at the Sydney Children's Hospital are conducting a study of the delivery and impact of incidental findings from genomic testing. They are interested in interviewing clinical geneticists and genetic counsellors who have returned such results to families, as well as those who have received such results (including adults receiving their own results and parents receiving results for their children). The study consists of interviews which will be conducted by telephone. If you don’t have time to take part yourself, but think your patient may be willing, we would still love to hear from you. A more detailed description of the study is attached
; or just email Samantha Mason at Samantha.firstname.lastname@example.org
or Edwin Kirk at Edwin.email@example.com
Gambling and intellectual disability research
Victoria University researchers are conducting a project called ‘People with an intellectual disability and engagement with gambling: carers' perspectives’. This research aims to explore the experience of carers of people with an intellectual disability who engage in gambling; it will focus on the carer’s perceptions of how gambling impacts the life of the person they care for, both negatively and positively. If you are over 18 and are caring for someone with an intellectual disability who gambles, you are welcome to complete this survey
Just do it: online strategies to promote exercise adherence
This study is part of the project entitled ‘Just do it: online strategies to promote exercise adherence’. This project will investigate the physical activity beliefs and behaviours of women over the age of 18, who completed active treatment for breast cancer (e.g. surgery, radiotherapy or chemotherapy) two or more years ago, and are no longer living with cancer. Participants will receive information designed to improve engagement in regular physical activity over one month. Find out more here
Australian Not-for-Profit Workforce Study
The Workforce Study is Australia’s first large-scale research study designed to identify what matters most for making Not-for-Profit work more developmental, healthy, meaningful, and productive. It is open to all levels of employees and volunteers. The more people who respond, the more representative and useful the results for growing people, organisations, and their impact. Find out more 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 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 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.