- 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 Bulleting 'Bits and Pieces'. I once again pen this message from my desk in Italy and report that despite time flying incredibly fast, all is very well over here. Heading into a new month it is almost impossible to believe that I have a been abroad over 8 weeks and that I am wearing a T-Shirt in June!
I hear it is cold in Victoria.... so with the winter months ahead this is a timely reminder of the flu season and that for many, flu vaccination is an important 'preventative' health care measure. The debate in relation to vaccinations is prolific, but as a best practice measure and in protection of those with compromised immune systems, complex health needs or in a high risk group, flu vaccination is an important consideration. The Immunise Australia Program offers lots of information on the merits of flu vaccination and answers some FAQ. See below for further details.
This past month I have been determined to establish a good working routine in Italy establish a good level of efficiency that is remotely like what I achieve at home… I give up, impossible!! Italy is just not that sort of place where strict routine and 8 to 10 hours of continuous work is acceptable. It's much more balanced and I guess relaxed. Over here my friends and colleagues are shocked, horrified and appalled to learn we Australians have lunch at our desks at work and have no ‘pause’ in the middle of the day. This is unheard of in Italy. So in keeping up with the local culture I work half a day (well try very hard to with wifi and internet that doesn’t cope at all with my email and internet demands) and then ‘pause’ for the obligatory lunch hour (its actually two) and downtime. An afternoon return to work and finishing up around 7pm or 8pm or is not uncommon. Dinner at 10pm is common..... Some days I do work through lunch and eat my desk, but it does not go down well at all. There is a remarkable difference in the approach to work and life in this part of the world and I’m learning that its probably better and healthier overall. My fellow countrymen in Italy work to live…. no confusion there. It does however reflect on efficiency but it is the norm to ‘wait a while’ for things to get done so I’m adjusting and learning to cope. I think three months to get a home phone is a bit long in the tooth however!!!
This past month has again been busy with a workshop on international approaches to neonatal diagnosis, a number of meetings with academics from the University of Bologna and preparations for the European Society of Human Genetics congress in Glasgow under my belt. A definate highlight for the month was meeting up with Doctor Sue White of the Victorian Clinical Genetics Services in Bertiloro, Emilia Romagna. Very nice to meet an Australian colleague for dinner and hear of news and home.
Please note the GSNV is operating on reduced staffing and office hours over the month of June. Our office may be unattended on a Wednesday and Thursday. Every effort will be made to respond to internal and community enquiries at the earliest possible time. We thank you for your cooperation and understanding.
Please send us your feedback and feel free to contact the GSNV office in relation to Bits and Pieces content.
Louisa Di Pietro
Support group news
13th June 2015
Superball MND Charity Ball
“The Park”, Powerhouse Club, Lakeside Drive, Albert Park.
Entertainment provided by The Chrome Donuts and popular singer/guitarist Bernard Mogg and featuring outstanding major and silent auction items. Download the Superball flyer
or email: firstname.lastname@example.org
to register a table.
13th June 2015
Very Special Kids Fashion Sale
9am to 3pm, Malvern Town Hall.
Style stalkers and bargain beauties will enjoy retail therapy that's good for the wallet and heart at the Very Special Kids
Fashion Sale. Clothing donated from top Australian and European brands will be on sale at up to 90% off the retail price. All funds raised will go to Very Special Kids, a local charity that supports families caring for children with life-threatening conditions. More info here
25th June 2015
"Say Cheese" outing
Guide Dogs Victoria
's Adult Mobility Services team have planed an event for people with a vision impairment who want to extend their mobility skills whilst locating and exploring some of Melbourne's best cheeseries! Lunch is provided. 10am-4pm, Melbourne CBD. Don't miss out on this cheesy opportunity! RSVP: 9854 4467 or email email@example.com
27th June 2015
HeartKids 25th 'Silver Anniversary' Stars of the Silver Screen Gala Ball
RACV Club in Melbourne. For more info contact Melissa Fernandez firstname.lastname@example.org
or (03) 9329 0446 or click here
27th June 2015
HT1 Tyrosinaemia Get together - Vic
invites all Tyrosinaemia type 1 (HT1) families to join them for an exclusive get-together on June 27th at a venue soon to be announced in the inner East suburbs of Melbourne (likely to be in the Richmond area). Further details to follow. Contact MDDA
for further information or to express interest to attend.
28th June 2015
Stay in Bed Day
Stay in Bed Day is an annual fundraising and awareness raising initiative of the Australian Mitochondrial Disease Foundation
(AMDF). It was launched six years ago as a way to raise awareness of mito within the general public. A play on words highlighting just one of the many side effects mito has on sufferers - having no energy and simply not being able to get out of bed. For more info see the website
1st July 2015
Haemophilia Treatment Centre Boys Day Out
9:30am Melbourne Aquarium
Free family day out at the aquarium - RSVP by the 15th of June via email email@example.com
or phone 9345 5099
19th July 2015
Cardiomyopathy Association of Australia Support Group Meeting
An Invitation to All Members, family, carers and friends also prospective members to a Meeting followed by a light lunch at The Auditorium, Epworth Hospital, Bridge Road, Richmond. Subjects: Non-invasive angiograms and new procedures. Stress-related cardiomyopathy. RSVP Joan Kerr (03) 9848 7082 or firstname.lastname@example.org
. See here
for more info.
In the media
Possible new treatment for a lethal pediatric brain cancer
Scientists have identified a number of new drugs that could be helpful in treating diffuse intrinsic pontine gliomas (DIPG), an aggressive and lethal form of pediatric cancer. DIPG typically affects 4 to 9 year olds, and causes a progressive loss of muscle control. The tumour rapidly attacks a part of the brain that connects it to the spinal cord. This location makes it hard for surgeons to reach and remove the tumour. Current treatment involves radiotherapy but children usually only survive for about nine months, and less than 1% survive longer than five years. It is hoped that these new drugs can help improve the prognosis for children with DIPG. Read more here
New and promising therapy for cystic fibrosis
Cystic fibrosis causes a build up of abnormally thick mucus lining in the lungs, which clogs air passages and results in repeated infections and blockages. Results from a clinical trial assessing the effectiveness of lumacaftor and ivacaftor poly-therapy. Whilst using either drug alone hasn't shown a clear benefit, the combination therapy has shown a 39% reduction in lung infections and a reduction in hospitalisations, in a cohort of children under the age of 12 who have two copies of the common F508del mutation. Read the article here
and see the editorial
in The New England Journal of Medicine.
New breast cancer susceptibility gene described
Researchers have found that a gene called RECQL is involved in breast cancer susceptibility among Polish and French-Canadian women, and have estimated that women that carry a faulty copy of RECQL have a 50% risk of developing breast cancer. More info here
New genetic modifier of Huntington disease
Changes in the huntingtin gene can lead to Huntington disease. The severity and age of onset of symptoms correlate with the type of gene change that is inherited, but two people with the exact same gene change can experience differing age of onset and severity of symptoms. Researchers have however, recently discovered a new genetic change nearby the huntingtin gene that also affects the onset of the disease. They also found that this gene variant leads to lower levels of huntingtin protein (normal or mutated) whichever version of the huntingtin gene it is beside. Read more here
Terminally ill patients will be able to access their super earlier
Changes to superannuation in the 2015/16 budget will mean that people with a terminal illness can access their superannuation benefits if doctors determine that they have just two years to live. The previous requirement was a year or less. This change is expected to help relieve the financial burdens associated with treatment costs or quality of life improvements. Read more here
The federal budget implications for the heath sector
- $1.6 billion over five years for new and amended listings on the PBS, including drugs for cancer, asthma and multiple sclerosis.
- Savings of $5.1 million in 2018‑19 by extending the increases to the Pharmaceutical Benefits Scheme (PBS) safety net thresholds. The general safety net thresholds will increase by 10% each year and concessional safety nets to increase by the cost of two prescriptions each year.
- $485 million to improve the electronic health record system. Changes include automatic sign up for all Australians with the possibility to opt-out.
- $400 million for Medical Research over the next four years, to be followed by an investment fund of $1 billion.
- $10.2 million over the next two years to improve organ and tissue donation and transplantation rates.
- Improvements in Rural Financial Incentives for Doctors.
- $20.0 million over the next two years to support the Royal Flying Doctor Service.
- Savings of $125.6 million by reducing indexation for benefits paid under the Child Dental Benefits Schedule. This might mean reduced access to dental services for children.
- $155 million for adult dental services. This is a reduction on the $200 million which was in the previous Budget allocation.
, The Conversation
, Budget overview
8th - 10th August 2015
PCS Global Pain Conference - Beijing, China
The conference will provide a highly interactive platform for pain basic research, clinical management, new drug discovery, Discipline and System Construction. For more information please visit the website
and click here
14th -15th August 2015
Australian Down Syndrome Conference - Adelaide
This will be a great opportunity for professionals and families to see Professor Sue Buckley present. Sue is one of the world’s leading researchers in the education and development of children with Down syndrome. More info on the website
15th - 18th August 2015
11th Australasian Cystic Fibrosis Conference - Sydney
Lay Program - 15 & 16 August 2015, Medical & Scientific Program 16, 17 & 18 August 2015 (Healthcare professionals only may register). More details here
. The website also contains a selection of videos from the 10th Australasian Cystic Fibrosis Conference in Auckland (scroll down).
28th - 29th August 2015
International Machado Joseph Disease (MJD) Conference
The conference theme of “excellence in research - a world of hope” will bring together people from around the world - scientists, health care professionals, and families - to share experience and knowledge of Machado Joseph Disease. For more information please contact the Conference Organiser, Vicki Dwyer, at V Events Phone: +61 (0)408 190 302. Email: MJDConf@vevents.com.au
11th - 13th September 2015
2nd National Cri Du Chat Conference & Family Weekend
A subsidised weekend of education, celebration and recreation where Australian families affected by CDCS can meet face-to-face with others facing similar challenges. Click here
for more info.
25th -27th September 2015
Albinism Fellowship of Australia Biennial conference
Cairns Hilton, Far North Queensland.
Join us for a wonderful weekend of fun, friendship and learning. This is a family friendly program and Youth and creche programs will be available.
for more details Join our Facebook page
to keep up to date. More information coming soon.
9th - 12th October 2015
Australian Wolf-Hirschhorn Syndrome Support Group Family Conference
The conference will be held in Boonah (Queensland) which is approximately a 20 min. drive from the township of Peak Crossing. For more information contact email@example.com
23rd - 25th October 2015
Global Eyes National Congress
For more info see the Registration Form
29th October 2015
1st International Meeting of People With Acromelic Dysplasias -
The Association of Small Statured People (Paris) is organising in partnership with Professor Valerie Cormier-Daire Hopital Necker’s, the First International Meeting of People with Acromelic Dysplasias. To obtain the program and registration form please conact Danièle Hugues at firstname.lastname@example.org
or visit www.appt.asso.fr
Ticket to work
National Disability Services (NDS) has partnered with Ticket to Work, a national program which supports young people with disability to successfully transition from school to work. Learn more about Ticket to Work here or contact Kerrie Langford, National Employment Manager, (02) 6283 3202, email@example.com
SMA Conference Webinar
to view a webinar from the FightSMA Annual Research Conference 2015.
Sands provides support to all bereaved parents and families who have suffered the death of a baby anytime from conception through to 28 days after birth - this includes miscarriage, neonatal death, stillbirth, ectopic pregnancy and genetic/medically advised termination. They have developed a range of brochures
for people that have experienced a loss of a baby.
Understanding genetic testing
Below are a number of reputable sources to help explain why genetic tests are ordered and what the results might mean.
Health Centre for Genetics Education
National Library of Medicine: Genetics Home Reference
National Human Genome Research Institute
National Cancer Institute
Immunise Australia Program
The Immunise Australia Program funds the purchase of vaccinations to protect Australians from vaccine-preventable diseases. These include routine childhood vaccinations against diseases that were once widely fatal, such as measles, diphtheria and whooping cough (pertussis), as well as more recently developed vaccines, such as Human Papillomavirus (HPV) and the meningococcal C vaccine. Read more here
The flu vaccine is also recommended for everyone from six months of age, but is available free under the Immunise Australia Program for people who face a high risk from influenza and its complications. Read more here
. For discussion about who should get the flu vaccine and why, see here
HeadCheck crowd funding campaign
One in three children experience concussion by the age of 16. The side effects of concussion can include lifelong challenges with memory and attention.
Research by MCRI
has shown many children who sustain concussion through organised sport are not assessed or managed properly, placing their health at risk.
Professor Vicki Anderson and her team are working with Curve Tomorrow, a health technology company embedded within Murdoch Childrens, to develop a free smartphone app called HeadCheck. The app can help parents, teachers and coaches recognise symptoms of concussion in children.
A prototype of the app has been released for iPhone and the team have now launched a crowd funding campaign in an attempt to raise the $15,000 needed to complete the app for iPhone and to build a version for Android.
How can you help?
7th - 13th June 2015
Chromosome disorder awareness week
There are lots of ideas of how you can get involved on Rare Chromosome Disorder Support Group's website
The Big Blue Bake Kit
Gene the Bear colouring competition
A-Z fundraising ideas
Flyers for schools & nurseries
How to wear a Unique Awareness Ribbon or hold a dress down day in Unique's colours, yellow and blue
Support on social media
If you have any questions, call 01883 723306 or email firstname.lastname@example.org
10th June 2015
Guide Dogs Victoria's comedy fundraiser
Comedian Owen Middleton has organised a fantastic comedy event at Station 59
in Richmond. Owen and friend Kieran Butler will be running the evening with the help of the Guide Dogs men's group, Adrenaline.
This FREE event starts at 8pm and will raise money for Guide Dogs Victoria. Station 59 is a blind and Guide Dog friendly venue but is strictly over 18's only. So go on, mark the date in your diary, come along for a fun night, great laughs and a good cause!
10th June 2015
Peer Support Network for Disability Advocates
This network gives Advocates the opportunity to learn from each other, in relation to our advocacy practice and how we as advocates:
- Achieve results for people with disabilities
- Approach our work
- Understand the environment we live and work in
- Understand and apply a human rights approach
- Debrief, self manage and build resilience
This network is for individual advocates working for a disability advocacy organisation funded by the Victorian Office for Disability or the Department of Social Services (formerly FaHCSIA).
Lunch is provided. Booking is essential. Let us know your dietary requirements and access needs when you register through DARU (details below). For more information about the Peer Support Network, contact Melanie Muir: T: 9489 2999 E: email@example.com
. Register online
. More information
13th June 2015
PKU NSW Gala Dinner
PKU NSW invites you to Ottimo House, Denham Court.
Tickets are available for $200 per person, but be quick as these run out fast! Tables can be organised by emailing Mirella firstname.lastname@example.org
or purchasing your ticket from here
13th - 14th June 2015
Free carers seminar - Coffs Harbour
15th - 21st June 2015
Men’s Health Week
Men's Health Week is a great time to raise the awareness and support the health and wellbeing of the men in your local community. Andrology Australia
invites individuals and organisations to host a men's health event during Men's Health Week and encourage men to talk to their doctor about their reproductive health. Click here
to find out more.
17th June 2015
Men’s Health Business Breakfast
This event raises awareness of the importance of men’s health during International Men’s Health Week and encourages all men to consider their own health and – Live Long Live Well. The keynote speaker is medical doctor, sports physician, Australian sports medicine pioneer and media personality Dr Peter Larkins
. For more info about the event, click here
21st June 2015
MND (Motor Neurone Disease) Global Day
Every year the International Alliance of ALS/MND Associations
celebrates 21 June as the global day of recognition of ALS/MND – a disease that affects people in every country of the globe. Global Day is an event that knows no boundaries, so everybody can be involved. Any event (big or small), any activity, any act, can be a part of raising awareness of ALS/MND. To find out more click here
22nd - 26th June 2015
World Continence Week
The Continence Foundation of Australia (CFA) will be launching their message for 2015, Tell Someone Who Cares, on June 26th to encourage people affected by incontinence, or those caring for someone with incontinence, to seek help by phoning the National Continence Helpline on 1800 33 00 66. Learn more about World Continence Awareness Week here
and visit the CFA forum
to connect and share your experience of incontinence.
26th June 2015
Red Nose Day
Red Nose Day
, held annually on the last Friday in June, is the major fundraiser for SIDS and Kids
. Funds raised through Red Nose Day activities assist SIDS and Kids in providing vital services and programs to the Australian community.
26th June 2015
NDIS Flying Start Housing Workshops
The Commonwealth and State governments (COAG) have finally given the go-ahead for funding “new and innovative specialist disability housing” in NDIS trial sites. This is the development we have been waiting for, a big step forward for the NDIS which has not been funding bricks and mortar since the scheme began.
This workshop will discuss the Latest news on what the NDIA is funding in housing/accommodation and new accommodation models and the future of CRU/Shared Supported Housing will be explored.
Provider/Organiser: Disability Services Consulting In partnership with the Community Housing Federation of Victoria and NSW Federation of Housing Associations.
. More information
29th June 2015
World Scleroderma Day
World Scleroderma Day is about raising awareness of this connective tissue autoimmune disease which affects up to 5,000 Australians. For more info click here
1st July 2015
Open Evening with Martin Foley
Eastern Disability Action Group ￼invites all people interested in disability issues to an Open Evening. Guest speaker is Hon Martin Foley, Victorian Minister for Housing, Disability and Ageing, Minister for Mental Health, Minister for Equality, Minister for Creative Industries.
Light refreshments provided. RSVP essential.
Provider/Organiser: EDAG. 6:30pm - 8:00pm, Ringwood. More information
5th July 2015
The Stadium Stomp course has been designed to take participants around the bays of the MCG containing the longest rows of stairs. Sign up and raise funds for your favourite charity. More info here
The My Great Support Worker Project
Do you have a great disability support worker or carer? Take part in research about your support worker and what you like about them. Click here
for the survey.
University of New England congenital variations in sex characteristics study
UNE researchers are conducting a survey of Australians who are born with congenital variations in sex characteristics (Intersex/ DSD/ hormonal, chromosomal or other biological variations/conditions). Click here
for the survey. Some terms with which you might have heard used to describe these variations are: Intersex, DSD/ Disorder of Sex Development/ Diverse Sex Development, atypical reproductive or sex development condition or variation whether hormonal, chromosomal, or otherwise biological (e.g. CAIS, Klinefelters, Turners, PCOS and many others).
Survey from Hepatitis Victoria for carers
Hepatitis Victoria are exploring the needs of people caring for/supporting others with hepatitis C and liver disease. They are aiming to investigate whether a tailored support and education workshop around hepatitis C for carers/significant other supporters should be implemented.
In this regard, they have created a short questionnaire for ‘carers’ to complete. The survey takes only 5 minutes and questions are mainly about where they get information about viral hepatitis and whether they have found any challenges in their role as carers. Respondents have to be the person related to or who are/were looking after someone with hepatitis C and liver disease. The questionnaire can be completed online here
. The survey is open until June 1st.
School Leavers with Autism Study
We are pleased to share with you our latest Research Video, featuring Dr Mirko Uljarevic talking about his current study. The Longitudinal Study for School Leavers with ASD aims to improve the support for adolescents and young adults during this significant and difficult transition period.
Olga Tennison Autism Research Centre (OTARC) are currently recruiting for this study and we are looking for 15-25 year olds with ASD.
For any questions or to express your interest in participating please feel free to contact Dr Mirko Uljarevic on 03 9479 6762 or via email: M.Uljarevic@latrobe.edu.au
or contact Ru Ying Cai, PhD Candidate, OTARC, via email R.Cai@latrobe.edu.au
to watch Dr Mirko Uljarevic’s video.
to find out more about the study and how you can participate.
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
- Idiopathic CD4+ lymphocytopenia
- 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 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.