- 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-Bulletin Bits and Pieces. In this edition we have included many items relating to support group events, education opportunities and resources that are all geared to assist the genetic and rare diseases community and promote knowledge and awareness. Please take the time to scroll through; there is something for everyone and lots that you may find helpful.
Tomorrow, Feb 27, the GSNV is proud to celebrate Rare Disease Day and complete our activities over Genetic Support Awareness Week or GSAW. The GSNV website showcases all our wonderful campaigns over the past weeks and hosts the beautiful photographs and message submitted by our rare disease community, as part of our ‘Facing Forward’ Campaign. We are delighted with the submissions in Facing Forward and will be producing an enduring memory on honour of all contributors, by way of a photo book. We are very excited to complete publication and make this book available to all our rare disease families and community in the near future.
With the benefit of social media and the support of all our networks this year’s Rare Disease Day campaign has been truly spectacular for the GSNV. The Murdoch Childrens Research (MCRI) Institute has partnered with us and assisted with some terrific communications and media coverage. Our Group Leader, Louisa Di Pietro appeared on Triple R radio with Dr. Shane Huntington on Sunday February 22
and Michelle Karim, appeared on Breakfast with Red Symons on February 26
. The GSNV has also contributed to the MCRI blog, discussing Rare Disease Day and some of the messages we wish to convey this year. We are proud to have worked with the Murdoch and established an effective and stunning representation of Rare Disease Day and our Rare Disease community in 2015. We have worked ‘Hand in Hand, Day by Day.’
Support group news
1st March 2015
Barefoot Lawn Bowls
3-8pm Sandringham Bowls Club. See more here
The Abbie Fennessy Trust has been established in conjunction with Cystic Fibrosis Victoria. Its aim is to raise money to support young adults living with CF. For more information visit the website
The Big Bounce for Cystic Fibrosis Victoria
Join CFV in March and host your very own Big Bounce party and raise money for CFV. Proudly supported by Springfree Trampoline
. Click here
for more info.
11th March 2015
MCRI’s Healthy Kids Seminar Series: Rare Diseases
10.30am - 12.00pm
The Royal Children’s Hospital
, Ella Latham Theatre
This seminar is about how new genetic testing is transforming the way rare genetic syndromes are being diagnosed. This seminar should be of interest to anyone who would like to know more about exome sequencing. It is part of MCRI’s Healthy Kids Seminar Series and features Rare Diseases and genetic testing. For more details and to register visit the MCRI website page
. If you cannot attend you can hopefully watch the seminar at a later date by registering at MCRI Learning Hub
15th March 2015
Spinocerebellar Ataxia Australia Group meeting
The Spinocerebellar Ataxia Australia Group will be holding a meeting for members and guests at 2.30pm Sunday 15th March at the Neurological Conference Room, 4th Floor Centre Block Lifts, The Alfred, Melbourne. Guest speakers will be Professor Elsdon Storey on 'Genetics' and Dr David Szmulewicz from the Royal Victorian Eye and Ear Hospital Melbourne and Tamar Black from the Temporal Bone Donor Society on 'Temporal Bone Bank Donations.'
18th March 2015
Autism Spectrum Disorder (ASD) workshop.
Queensland Brain Institute, Brisbane, Australia.
The speakers will present their data on genetics and magnetic resonance imaging to understand the cause of ASD as well as how this might influence better diagnostic testing and subtyping of individuals with ASD.
The talks will be directed toward health workers and physicians working with ASD individuals as well as families. For the program click here
21st March 2015
Dining with Daisies Gala Dinner
The Dining with Daisies Gala Dinner is the major annual fundraising event for the Children's Tumour Foundation and focuses on raising funds to facilitate the placment of a national network of Support Coordinators to assist NF families around Australia. To see the flyer click here.
21st March 2015
Undiagnosed Children’s Awareness Day
10.00am - 12.00pm
Croxton Special School Playground (Gym if it’s raining), Cnr Woolhouse St and Beavers Road
Undiagnosed Children's Awareness Day (UCAD) is the major event SWAN Australia hosts each year. Undiagnosed Children's Awareness Day (UCAD) aims to increase awareness and understanding of the impact and prevalence of undiagnosed genetic conditions within the wider community. The day brings SWAN families and other supporters together in recognition of undiagnosed children.
We have lots of fun activities planned for the day including our famous "Roll" where people roll down a small slope which is symbolic of trying to "unRoll" the mystery of undiagnosed conditions. So please bring your friends and families along and support this fun event. More details to come soon - check here
For more info see the flyer
or email Sue - email@example.com
. To register click here
29th March 2015
Klinefelter Syndrome Seminar
Come along to meet other families with Klinefelter Syndrome and share stories and strategies.
You will be joined on the day by professional guest speakers who will present on many aspects of Klinefelter Syndrome such as hormone treatment, psychosocial issues and personal stories. It will be an excellent opportunity for you to ask any questions, share experiences and meet Monica Bray who has established the Klinefelter Syndrome Support Group.
RSVP by Tuesday 10th March 2015 to Doriane Ranaivoharison, Project Manager at Genetic Alliance Australia, C/- Garvan Institute of Medical Research, Level 6, 384 Victoria street, Darlinghurst, NSW 2010 – (02) 9295 8359 or email firstname.lastname@example.org
. See the flyer here
In the media
Disability employment rate at 15-year low
The percentage of people with a disability in employment has been declining steadily. Disability advocates say it's time for Australia to consider employment equity laws to force employers to take steps designed to promote the employment of people with disabilities. For more info click here
Federal government shelves the $20 Medicare change
Fierce political backlash has caused the government to back down from cutting the rebate for short GP visits by $20. The second proposed aspect of the policy, which appears to have been left untouched, is that, as of July 2015, the Medicare benefit for all GP services provided to non-concessional patients will be reduced by A$5. Further, all Medicare rebates are to be frozen until July 2018. The government is now undertaking wide-ranging consultations with doctors and the community across the country to come with sensible options for Medicare reform. Sources: see here
Exercise is key to building up lungs for Cystic Fibrosis patients
In recent years its been recognized that any form of exercise, but especially cardiovascular exercise — helps to clear the lungs of people with CF. Muscle strengthening and building exercises also help because they’re linked to a stronger immune system. Swimming or surfing in the ocean helps liquefy the mucus because of the salty mist. For more info see here
Myriad Genetics Ending BRCA Patent Dispute
Myriad Genetics has given up trying to stop other companies from offering tests for increased risk of breast cancer, ending a dispute that was the subject of a landmark Supreme Court ruling that human genes cannot be patented. Click here
to read more.
Coles to introduce special needs trolleys
A Gold Coast mother has successfully petitioned Coles supermarkets to provide trolleys that cater for children with special needs. Her son Michael has a rare condition called hemiconvulsion-hemiplegia-epilepsy syndrome
. Michael needs to wear special boots that help his legs grow the right way, but they not fit in a regular trolley seat for children. To read more click here
Virgin flights more accessible for people with disabilities
Previous booking rules meant that people who needed to be accompanied by a carer could only book one the carer was rostered. This meant that booking could only be made at the last minute, meaning that the least convenient times and most expensive rates were available to people who needed a carer. Following a recent ruling of the Anti-Discrimination Board of NSW, people can now book in advance without having to provide the carers name. For more info click here
19th - 20th March 2015
Cortical Connections 2015
Over two days this conference brings together international leaders in the field of normal and abnormal wiring of the cerebral cortex, and how this impacts cognitive function. A special focus will be on the development and cognitive function of the corpus callosum and the genetic basis of how callosal malformations arise and how this impacts cognition. For the program click here
21st - 23rd March 2015
321 eLearning conference
The 321 eConference is being held to align with World Down Syndrome Day and it is an opportunity for families, educators, and researchers from around the world to connect, share, and learn about Down Syndrome. For more info click here
21st -22nd March 2015
CONNECTIONS 2015 will bring together families affected by Disorders of the Corpus Callosum (DCC). Enjoy 2 days of networking and learning more from local and international speakers with expertise in DCC. With a range of topics and workshops the program has something to offer for everyone.
- Lectures, discussion groups and family interaction
- A Kids’ club with trained carers and age group activities
- A designated ACC 18+ adults’ program including lectures, discussions, social activities and Queensland Brain Institute tour.
- As well as many opportunities to socialise with other families, we hope that everyone will leave knowing more, knowing new friends and knowing you’re not alone!
For more info click here
23rd - 24th March 2015
ACT NDIS Conference
This conference will provide people with disability, their families, carers and the frontline workforce for disability with a current and clear understanding of the nature and pace of the NDIS and what it is bringing to people in the ACT.
By attending the conference, you will hear first-hand from people with disability, families and workers who have been experiencing the changes, challenges and choices in the ACT trial site and beyond.
You will have the opportunity to engage with and ask questions of NDIS experts, the senior leaders of the National Disability Insurance Agency and the ACT Government.
The program includes workshops that will provide you with practical information, tools and resources that you can put into practice immediately. For more info and to register click here
27th - 28th March 2015
The Rare Disease Summit 2015: A National Plan for Rare Diseases – Driving Collaboration, Driving Action
Over two days attendees will listen to and engage with experts in Four Focus areas of Rare Diseases.
- Current Initiatives to progress a National Plan for Rare Diseases
- Data Collection and Use
- Models of Health Care
- Diagnostics, Therapeutics, & Clinical Trials
Focusing on people's experience of the health care system across Australia, the objective of a national plan is for more equitable access to appropriate services and to narrow the gap between how people with a rare disease experience the health system compared to people who also experience complex but more common health conditions.
A multidisciplinary audience is anticipated with representatives from patient organisations and networks; health departments, hospital, laboratory, primary care and care coordination services; research organisations and networks; and pharmaceutical and diagnostic companies.
This Summit represents the critical first step as we collaborate on the development of a National Plan for all Australians living with a rare disease. For more info click here
27th March 2015
Fragile X Workshop
Interested to learn more about Fragile X syndrome? Dr Marcia Braden is the world's leading expert on behaviour and education for people with Fragile X. These 2 workshops are a unique opportunity for families, carers, therapists and special educators. Topics include Fragile X update; strategies for building positive behaviours; and helping children & adults succeed in learning environments.
16th -18th April 2015
Life Without Limits Conference - Auckland
The Muscular Dystrophy Association of New Zealand (MDA) in collaboration with the Australasian Neuromuscular Network (ANN) is hosting an international conference themed 'Life Without Limits'. The conference will be held at the SKYCITY Convention Centre, Auckland, New Zealand.
The forum will bring together an audience of all those with an interest in neuromuscular conditions, whether it be from a personal or professional perspective. For more info click here
11th May 2015
Inclusive Communities Symposium Melbourne
9am – 5pm Lunch provided
Melbourne Arts Centre
100 St Kilda Road
Consumer driven markets in disability, aged care and mental health are driving reform at the same time as a cultural shift which encourages Australian society, but especially our sector, to think about inclusive communities and how we can create them. This symposium will cover tough ground to get the sector thinking and develop an action plan moving forward into reform.
For more information call (02) 9789 1348 or email email@example.com
11th - 12th April 2015
3rd Asia Pacific Prader-Willi Syndrome Conference
@Rydges Melbourne. Please see the website for more details – www.pwsconference.org
Join 30 local, national and international speakers – all leaders in their field and all have an interest in enhancing the lives of people with PWS.
6th - 9th June 2015
European Human Genetics conference
The European Human Genetics Conference (now in its 49th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet. See the website
for more info.
13th - 15h August 2015
67th Annual National Hemophilia Foundation Meeting - Dallas
Registration is open for the “Boots on the Ground,” meeting. For more info click here
Rare Disease Day Mobile Site
With a couple of days to go until Rare Disease Day 2015, 28 February, the new RareDiseaseDay.org
mobile site allows for a fantastic experience on all mobile devices. Access the site on your mobile to become a Rare Disease Day friend, to 'Raise and Join Hands' and send us your photos direct from your mobile, to tell your rare disease story or to post details of your event.
Big Red Kidney Bus
A bus dialysis service to help people on dialysis go on holidays. Vacancies are currently available for the trip to the Grampians 23 March to 26 April 2015. For more info click here
ACCAN Launches Hardship Portal
The Australian Communications Consumer Action Network
(ACCAN), has launched an online Hardship Portal
– a set of resources to assist people through tough times. The Portal is designed for financial counsellors as well as consumers experiencing financial hardship. See the website
Disability Standards for Education
The University of Canberra's Education Institute have developed the 'Disability Standards for Education: A Practical Guide for Individuals, Families and Communities' resource
. It is a free, web-based resource with material about rights, reasonable adjustments, what’s fair, and working together with schools. It includes stories, videotapes, resources, glossary, facts sheets and interactive questions.
Horse riding program for children with physical and intellectual disabilities
The release of this new program will helpfully alleviate long waiting times for similar programs. Horse riding helps children with physical strengthening for those with muscle problems and helps children with communications and confidence. For more info click here
Villa Maria Out & About App
The free Out & About app
is designed to assist carers and individuals with disability or mobility issues to better access their community and plan a great day out through information about accessible venues and events across metropolitan Melbourne. Click here
to download the app.
is a platform and social network that allows patients and caregivers to share their health solutions with other people. You can browse a specific condition
and see all the available innovations available.
Qantas Carer Concession Card
Did you know that you may be eligible for discounted air travel when accompanying your loved one on a Qantas flight? Find out all the details here
27th February 2015
Pinarc Trivia Night
Come along to Pinarc's trivia night to help raise money for respite programs. There will be great door prizes & a silent auction, with prizes such as car services, trade services, wine, plants, bread and grocery vouchers, $50 bank accounts from Buninyong Bendigo Bank, a gorgeous handmade quilt and much more....
The demand for respite is high; with waitlists in excess of 120 people waiting for services at Pinarc. The money raised will go towards programs such as camps, recreation activities, social groups or support groups to help alleviate the pressure experienced by families.
It will be a fun night, so get a table together and come along and have some fun! See the flyer here
28th February 2015
Melbourne Swim Classic
Participate in an open water swimming festival held on St Kilda Beach to raise money for your favorite charity
. For more info and to register click here
If you are unable to attend, you can still donate here
28th February 2015
staff participating in this April's Anzac Kokoda Challenge are holding a movie night fundraiser for the hospital. The event features a special showing of critical darling The Theory of Everything on February 28 at Classic Cinemas in Elsternwick.
The Theory of Everything tells the story of renowned astrophysicist Stephen Hawking and his struggle with motor neuron disease, a neurodegenerative disorder. All money raised at the showing supports the RCH Children’s Neuroscience Centre, which helps young people affected by disorders such as epilepsy and strokes. For tickets and more info, click here
4th March 2015
50 Shades of Grey Movie Luncheon
Time: 10:30 AM – 1:30 PM Maroondah Parent Support Network
Support Group (Yarrunga Community Centre
, Croydon Hills). Click here
to see the Movie luncheon flyer and here
for further information..
10th March 2015
Better Start Early Days Support Workshop Two
Down Syndrome Victoria
will be hosting a workshop for parents with a young child with Down syndrome.
When: Tuesday 10th March - 9.15am to 12pm
Where: Arrabri Community House
, Allambanan Drive, Bayswater North
The workshop will include:
- Finding balance in life
- Taking care of yourself
- Maximising the early intervention experience
- Planning and creating a vision.
- Goal setting
This session is part of a suite of workshops that are designed to support parents and the family unit. The intent of Workshop Two is to bring parents of young children with Down syndrome into one space in which you can not only access information, but can meet, share and unite with others in a similar situation.
The sessions are relaxed and quite informal to allow for the sharing of experiences and learning from others. For more info click here
11th March 2015
Seminar - How the new genetics is transforming diagnosis of rare genetic diseases.
Most genetic diseases are rare, but there are about 8000 different rare diseases, most of which begin in childhood. Collectively, rare diseases affect 6 to 10% of the population, cause 35% of deaths in children in the first year of life, and account for up to a fifth of paediatric hospital admissions worldwide. Many patients and their families are faced with a long journey through the diagnostic process in order that their child can be treated.
leading researcher, Professor David Thorburn, has been at the international forefront of introducing new genetic technologies into diagnosing rare diseases and has identified over 20 novel disease genes in the last decade. Professor Thorburn will describe how the current advances in genomic medicine are assisting faster and more accurate diagnosis and treatment.
Primary School Art Competition
Students are invited to draw, paint, create a collage or otherwise create an artwork that reflects this year's theme: 'Strengthening Our Community'. For more info click here
(scroll to the bottom of the page).
21st March 2015
World Down Syndrome Day
Down Syndrome International
encourages our friends all over the world to choose your own activities and events to help raise awareness of what Down syndrome is, what it means to have Down syndrome, and how people with Down syndrome play a vital role in our lives and communities. We will share your WDSD World Events on our dedicated WDSD website
in a single global meeting place.
Down Syndrome International invites everyone across the world to wear LOTS OF SOCKS on 21 March 2015 to raise awareness on World Down Syndrome Day (WDSD).
3rd April 2015
Makayla Cook's Charity Golf Day
The annual Makayla Cook Charity Golf Day is held on Good Friday, 3rd April, at the Drouin Golf and Country Club. Lots of great prizes to be won and 7 competition holes. Function to follow with a live auction, raffle and live music, food and drinks.
Contact Jackie Cook 0488 201 200 or firstname.lastname@example.org
for further details or to request an entry form!
3rd April 2015
Good Friday Appeal
Each year the Good Friday Appeal
brings together people from all parts of the community to raise much needed funds for equipment, research and education to support the work of The Royal Children's Hospital
The activities of the Good Friday Appeal lead up to an all-day telethon, broadcast live across Victoria on Good Friday and supported by the Herald Sun, Channel 7 and 3AW 693.
To find out more about the Good Friday Appeal events, click here
Supportive care needs of parents with a child with a rare diseases
The purpose of this research is to better understand the supportive care needs of parents caring for a child diagnosed with a rare disease (irrespective of what disease their child has), and to develop a tool for use by health professionals to assist them in identifying parental support needs. As you are well aware, parents play a vital role in the daily lives of their children with a rare disease. They carry significant daily responsibilities of care. Yet, very little is actually known about their supportive care needs. This research aims to give parents of children with rare diseases an opportunity to have their voices heard and their needs recognized with the ultimate goal to improve the way health providers identify needs, tailor support and plan and implement services within the rare disease community. The information obtained from this study should eventually lead to more appropriate individualised supportive care for parents. Click here
for the survey.
Neurofibromatosis 1 registry
The NF1 Patient Registry Initiative
(NPRI) team received a grant to study risk factors for childhood brain tumors in individuals with NF1. The NPRI is currently recruiting both adults and children with NF1 who either (1) HAVE previously been diagnosed with a brain tumor younger than 18 years or (2) HAVE NEVER had a brain tumor. Please check out their new infographic describing this research opportunity here
The Skin Centre on the Gold Coast, Queensland, is now recruiting patients for a long-term psoriasis trial. Potential candidates need to have moderate to severe plaque psoriasis covering at least 10% of their total body surface area and willing to attend regular visits.
For more information, please email the Clinical Nurse Specialist, Carolyn: email@example.com
or click here
Attention all Australian MPS/ML parents/caregivers
Please spare a few moments to complete the MPS Society's School Connection Survey
. Your feedback is so valuable and will help guide the Society's School Connection Project for 2015. Contact firstname.lastname@example.org
for more information.
ANZ Fontan Registry
We are currently recruiting individuals aged 12-18 years with a Fontan circulation to take part in a Victoria-based study on the effect of an eight-week exercise program. For more information please email: email@example.com
or call Karin (03) 93456161
The Scope Outcomes Project
Scope researchers are testing surveys to see if they measure what they are designed to measure. We need people with a disability (or their carers/support workers) to complete the surveys for us to test.
The surveys are accessible and designed to work with a range of assistive technologies. If the surveys work well, they can be used by other disability services to measure the impact of the services on the lives of people with a disability. Find the surveys 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)
- Hajdu Cheney syndrome
- Megalencephaly Capillary Malformation (MCAP) syndrome
- Milroy disease
- Pantothenate Kinase-associated Neurodegeneration
- Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
- Sotos 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.