Bits and Pieces November 2014


  • From the team
  • Support group news
  • In the media
  • Conferences and seminars
  • Resources
  • Community
  • Research
  • Seeking contact
  • GSNV Calendar

From the team

Welcome to the latest edition of the GSNV E-News Bulletin Bits and Pieces. As the year draws to a close, it’s that time when many groups get together, share with each other and celebrate the year’s end.  There are numerous events and conferences to make a note of in your diaries but don’t forget to SAVE THE DATE for Rare Disease Day on February 28th, 2015, and the GSNV Genetic Support and Awareness Week (GSAW) designed to coincide with Rare Disease Day 2015.  The GSNV will be communicating soon our planned events throughout the week of February 23rd, 2015 and we look forward you our entire network and membership getting involved.  All our activities are designed to raise awareness and rally the acknowledgment of genetic support groups and their important role in supporting the community.
Please continue to forward your support group news and events to the GSNV and let us know what information you would like us to include in future editions... your feedback is important to us. 
As we head toward the holiday season the GSNV reminds all our readers of the importance of self care and planning over the holidays, as many services are either closed or running on reduced staff. The GSNV will announce our holiday closure times on our website in the coming weeks.

Louisa Di Pietro

Support group news

Global Mitochondrial Disease Awareness Week Update from the Australian Mitochondrial Disease Foundation (AMDF)
During September many activities took place for Global Mitochondrial Disease Awareness Week including attending the General Practitioner Conference & Exhibition (GPCE) Brisbane, having an information stand at NSW parliament house, exhibiting at the Better Homes and Gardens LIVE expo, and running the 'Faces of Mito' Facebook campaign. Other than that... AMDF's focus has been on its highly successful The Bloody Long Walk events. The last one was held in Melbourne on Sunday 9 November and nearly half a million was raised in total. The AMDF also held their Victorian information day on the 15th of November. About 20 individuals and families attended the day and listened to presentations from researchers and PhD students that the foundation has funded over the years. The GSNV participated in the day by presenting on “Genetic counselling- what is the point?”- giving the attendees an insight into genetic counselling and the role of the service in mitochondrial conditions. The talk was well received with the attendees asking many important and relevant questions.

As a foundation, the AMDF does an amazing job raising research dollars to fund PhD students interested in mitochondrial diseases and to provide research labs with necessary equipment. The group’s bold motto is to find a cure for mitochondrial conditions and to support individuals and families till a cure is found. They are clearly doing a fantastic job helping researchers gain a better understanding about mitochondrial disease however also continue to support the community through online Facebook groups. 

The GSNV would like to thank the AMDF for giving us the opportunity to speak at their information day.

GSNV Small Grants Scheme
The GSNV Small  Grants Scheme is now officially open to all interested parties. Please review the information and criteria for 2014 and follow the applications process.  The GSNV is keen to support the vital work of support groups who are often under resourced and in need of a helping hand.  Let us help you and your community with a small but nonetheless helpful grant that may get your project or much needed purchase under way. 

The GSNV will not receive applications after November 29, 2014.

We look forward to receiving grant applications that meet with the core values of the GSNV and are consistent with our vision and mission.

Also see the Small Grants info sheetcriteria, and application form.

19th November, 2014
National Plan Engagement Roadshow for Rare Diseases, WA (Perth)

Rare Voices Australia is advocating as its number one priority for Australia to adopt a National Rare Diseases Plan.  Over the past two years extensive research and information has been gathered and used to develop a Scoping Paper on the need for a National Rare Diseases Plan. We would like to invite you to engage with Rare Voices Australia to review the Scoping Paper and to contribute ideas. RVA would like to understand what is required for there to be full support for a Rare Diseases Plan.   

An outcome of the half-day session is to provide a concise report that summarises the key issues and opportunities and agreed actions.

For further information, please contact Megan Fookes, Executive Director of Rare Voices Australia. E:

26th November 2014
Cystic Fibrosis Victoria Fundraiser Dinner
Organised by students from William Angliss Institute in support of Cystic Fibrosis Victoria with proceeds being donated to CFV - Book NOW - 26 November at 6.30pm $30 for a three course meal Phone: 9606 2108; Email: See the Flyer.

28th November 2014
Cystic Fibrosis Victoria Christmas Breakfast

29th November 2014
The Velo-Cardio-Facial Syndrome and 22q11 Foundation Christmas Party
Willoughby Park, Mcclelland Street Willoughby NSW RSVP:

29th November 2014
Short Statured People of Australia (SSPA) Adult’s Christmas Party
Venue: The Commune, Cnr Parliament Place and St Andrew’s Place, East Melbourne Time: 7pm Cost: $25 for members & $35 for non members. Cost includes the private use of The Commune, music, as well as finger food. All payments must be received before the date of the party, 29th November. Dress: Semi formal (no denim) RSVP A MUST!: to Social Coordinators: Margherita Coppolino or Ashleigh Hutchins by Saturday 22nd November, including full payment How to pay: $25 for members OR $35 for non members to Short Statured People of Australia Inc. Bendigo Bank BSB: 633000 Account No: 111096202 ***Please make sure you reference your payment with your initials and let Margherita and/or Ashleigh know the date you deposited your money.

30th November 2014
Short Statured People of Australia (SSPA) Children’s and Teen’s Christmas Party
Time: from 12.00pm Venue: Albert Park Lake, Aughtie Drive, Albert Park. There is a playground, bbq facilities and a Rotunda opposite the Melbourne Sports and Aquatic Centre (MSAC) where we’ll all be gathering. BYO: There are bbq facilities available for use or you can bring along a picnic lunch. Details: Santa will visit at about 1.00pm (please bring along a small gift for your child/ren) and there will be games and activities organised for everyone to participate in afterwards. RSVP: to Social Coordinators: Margherita Coppolino or Ashleigh Hutchins by Saturday 22nd November

30th November 2014
Victorian Fragile X Family Network, Fragile X Get Together
Oaks Picnic Area. Jells Park. 975 Ferntree Gully Wheelers Hill. Please bring along a picnic lunch for yourself and family, sunscreen, hats, drinks, chairs and anything else you might think of. The Fragile X Association of Australia banner will be displayed at the picnic site so that you can find us, especially if its your first time meeting us. Please RSVP to Bronwyn at or phone 0407 206 459. Please feel free to just turn up if that is what suits. 

13th December 2014
ROCK ON for Sanfilippo!
Local Northern Beaches Bands Van Bogan and Kimbriki Road will be taking to the stage on 13th December. The guys will be donating their band fees and performing 70s, 80s and 90s hits at North Manly Bowling Club (NSW). Pencil it in peeps and dig out your black t-shirts, it's going to be lots of FUN...Rock'n'roll!

14th December 2014
Christmas Party for Special Children
For AMAZE clients @Moonee Valley Racecourse - For more info click here.

28th - 30th August 2015
Charcot Marie Tooth Youth Weekend 2015
For young school children with Charcot Marie Tooth Disease. Experience heaps of fun activities like archery, giant swing, cable glide, canoeing, rock climbing and more. It will be held at the NSW Sport & Rec Centre at Berry on the NSW South Coast. Email Jillian at or call mobile 0428 221 264 for more details or to register your interest and we’ll send you the details. See the flyer here.

In the media

New drug for Cystic Fibrosis listed on the PBS
Health Minister Peter Dutton has recently announced that Kalydeco (ivafactor) will be listed on the PBS from 1st Dec. This means all patients with cystic fibrosis that are 6 years and older who have a G551D mutation will have their treatment with the drug subsided for as long as needed. Click here to read more.   

Trial for women with breast cancer
A new trial in Perth is focusing on finding out if having a break in between treatments for breast cancer can help improve women's chances of having children. For more details click here.

New gene linked to blindness and Parkinson's disease
A group a Duke University have recently published findings from studies in the mouse that show that the loss of Ranbp2 leads to a condition that resembles age-related macular degeneration and Parkinsonism tremors. Read more here.

A video game to treat ADHD and Alzheimer's
Clinical trials are looking at video games for the treatment of disorders affecting executive brain functions - the ability to plan, inhibit actions, and quickly switch between tasks. More info here

A drug trial for amyotrophic lateral sclerosis 
A drug used to treat heart disease is now being trialed for the treatment of ALS. The drug digoxin works by blocking nerve cell death. Read more here

A new gene found to be involved in colorectal and endometrial cancers
A study recently reported in Nature Genetics has shown that a mutation in the RNF43 gene is the most common cause of colorectal and endometrial cancers. For more info see the article.   

A new drug on the PBS for Epilepsy
A new drug called Fycompa® (perampanel) has received reimbursement in Australia for treating partial onset seizures (the most common form of epilepsy). For more info click here.

Announcement of an independent review of the regulation of medicines and medical devices.
The Federal Department of Health has recently appointed an Expert Panel to Review Medicines and Medical Devices Regulation in Australia in order to reduce regulatory burdens. The panel will be consulting with health professionals, industry, consumers and other stakeholders and will be calling for submissions in the near future. Read more here and here.


1st - 3rd December 2014

AussieMit 2014

AussieMit is the fourth biennial meeting of researchers in Australia that brings together scientists and clinicians studying biochemistry, molecular biology, plant sciences, and cell and developmental biology with mitochondria as the focal point. The diverse backgrounds of the delegates contribute to lively and stimulating meetings.

Visit the AussieMit 2014 website to register and for more information.

4th December 2014
NDIS and Advocacy Conference
Barwon Disability Advocacy Network invites you to this important conference that will explore the NDIS rollout from the perspective of both consumers and workers/advocates, both within the Barwon region and nationally.

The main themes will be self empowerment and the need for the consumer voice to be heard and advocacy and support.

Booking is essential.  For more info click here.

10th - 12th April 2015:

Combined ASoC and MGSA 2015 Meeting 
On behalf of the Australasian Society of Cytogeneticists and the Molecular Genetics Society of Australasia, we invite you to the 2015 Combined Interim Scientific Meeting to be held in Auckland, New Zealand. 

The theme for the meeting is 'bridging the gap', bringing the traditional disciplines of Molecular Genetics and Cytogenetics closer together.  We look forward to you joining us on the journey from the basics through to a look to the future with perhaps a bungy or two into the unknown along the way.    

For more info click here

10th - 12th April 2015:
Chromosome 18 Annual Family Conference
For further information, click here.

27th - 30th April 2015:

13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation
The meeting aims to present the latest developments in the field, the best methodologies for scanning, sequencing, bio-informatic analysis and functional testing. The meeting will be presented in plenary format with notable invited speakers and invited abstracts after peer review. The meeting will include Workshops on themes related to NGS pipelines and analysis, data collection and variation nomenclature. For more info click here.

8th - 11th August 2015:
HGSA 39TH Annual Scientific Meeting
On behalf of the The Human Genetics Society of Australasia (HGSA) we invite you to the 2015 Annual Scientific Meeting (ASM) to be held  at the Perth Convention and Exhibition Centre, in Perth, Western Australia. The HGSA ASM 2015 promises to be an exciting meeting with a strong scientific program on the theme of Rare Diseases and Indigenous Genetics. For more info click here.


New Cancer online support service for teenagers and young adults
A new online support program will give young cancer patients 24 hour access to professional counselling, information and a chat room. CanTeen’s new online support program  recently launched by Health Minister Peter Dutton will provide 24/7 access to youth specific information on cancer.

Young people will be able to connect with peers and share their cancer experiences through blogs, forums and testimonials on the website. And professional counsellors will also be available online.

Original Source: Canteen Counselling

Cancer Council Victoria Resources
New editions of informational booklets have recently been released.
Understanding Chemotherapy
Understanding Breast Cancer
Understanding Cancer of the Liver

New Apps
Transcense - An app that lets people with hearing problems participate in group conversations by seeing it on their phones - read more here.  

Iron-Tracker - An app for people living with Hemochromatosis to help keep better track of their treatment - read more here.

Online Epilepsy Resource
Epilepsy Action Australia has been working to develop online resources and tools to assist young people with epilepsy, and their families. e-Quip is a self-paced online resource to assist young people living with epilepsy. It's a comprehensive, dynamic source of information that addresses issues faced by youth living with epilepsy. It provides strategies to address issues that arise during the transition from childhood to adulthood as well as provide clear referral pathways for further support. Click here to get started.

Stepping Stones Triple P Project 
- by Kristina Clarke, Brain & Mind Research Institute, University of Sydney
The Stepping Stones Triple P Project is rolling out Stepping Stones programs to families in Qld, Vic and NSW. The federally-funded project aims to reduce behavioural and emotional problems in young people with developmental disabilities, decrease family stress, and increase parent confidence in managing challenging behaviours. Visit the Stepping Stones website to read about the programs and check availability in your area. For more information. In Queensland contact: or (07) 3365 6499. In Victoria contact: or (03) 9905 0154.


26th November 2014
An evening for bereaved parents
Very Special Kids will be hosting an evening that will include discussion about navigating important dates and facing a new year. There will be an opportunity to create a memento for your child if you choose to. For more info click here.

3rd December 2015
International Day of People with Disabilities
International Day of People with Disability is a United Nations sanctioned day that aims to promote an understanding of people with disability and encourage support for their dignity, rights and well-being. Click here for more info,

21st March 2015
Undiagnosed Children’s Awareness Day
Click here for the website.

Charcot Marie Tooth Aussie Kids Facebook Page
As part of the evolution of the camps CMT Association Australia have a Facebook page 'CMT Aussie Kids' to allow the kids to stay in touch and share thoughts and experiences in between camps. The Facebook page is open to all children in Australia with CMT regardless of their involvement with the camp. The support the 'kids' give each other is immeasurable. This page is a closed page and is monitored and moderated constantly by Jillian and Peter Critchley. Please feel free to share this information with colleagues. CMTAA State Coordinators please pass this onto support group coordinators in your state. You can contact Jillian and Peter Critchley for further information on Mobile: 0428 221 264

Professor Ravi Savarirayan Head of Clinical Genetics Services at VCGS is raising money for Yatra Foundation Australia by cycling around India for 9 days next March. 
Sponsor him and help Yatra Foundation Australia to give disadvantaged children in India the opportunity to access education.
100% of donations goes to support the 1000 children in Yatra schools in India!
Please sponsor Ravi at his fundraising page.
For more information about Yatra Foundation click here.

Listen up thrill seekers. We have been provided a once in a lifetime opportunity to auction 3 Laps of Winton raceway as a passenger with 5-time Carrera Cup Champion Craig Baird in his current Porsche 991 Carrera Cup car!! The proceeds of the auction will go towards Friedreich ataxia research at Murdoch Childrens Research Institute.

Location: Winton Motor Raceway, Benalla
Date: Tuesday December 09, 2014
Time: Option A (9:00am-12:00pm) or Option B (1:00pm-4:00pm)

You just need to email your auction bids to

The auction will close on 2nd December. Good luck!



Australian Breakthrough Cancer (ABC) Study
You don’t have to have cancer to fight cancer. The Cancer Council is running the Australian Breakthrough Cancer (ABC) Study - an exciting new research project looking into the causes of cancer. They need 50,000 participants Australia-wide so please help spread the word! The ABC Study will investigate the causes of cancer and other diseases. If you're an Australian resident, 40 to 74 years of age, and you've never been diagnosed with cancer, other than non-melanoma skin cancer, you can take part. To find out more click here.

Join the Australian Epilepsy Research Register
Could you participate in social research on the impact of epilepsy? If you join the Australian Epilepsy Research Register and it will give you the chance have your voice heard in a special way! You can register online OR email: OR Ph: (03) 8809 0600.

Survey: Eastern Region Youth Disability Strategy
The National Disability Coordination Officer (NDCO) Program invites all stakeholder groups across Eastern Metropolitan Melbourne (including young people with disability and their families, secondary schools and tertiary providers, community and disability support services, Government bodies and Employment Service providers) to work collectively to strengthen education, training and employment pathways so that young people with disability (ages 15 - 25 years) are well equipped to enter supportive and sustainable employment.

Please help shape the Eastern Region Youth Disability Strategy (2015 - 2020) by sharing your thoughts and ideas on current roadblocks to success and possible ideas to develop, strengthen and diversify transition pathways. Click here to go to the survey.


Seeking Contact

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.
  • Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
  • Neutropenia
  • Pantothenate Kinase-associated Neurodegeneration
  • Megalencephaly Capillary Malformation (MCAP) syndrome
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 or phoning (03) 8341 6315.

For a listing of support groups in Victoria see the links page on the GSNV website:


Click here to see the GSNV calendar of events.



ArtAbility® is an inspiring visual arts program run by ADEC that unites a range of talented artists of all ages, from a variety of cultures who are living with a disability.

Click here to find out more!

New book - TOAST: Autism in The Early Years

A mother with two sons on the spectrum writes about the questions and provides answers to all the issues a parent or carer of a newly diagnosed child with autism might have. Read more here.

Think Again. Think NP-C campaign

An international Rare Disease campaign to help recognise Niemann-Pick type C signs & symptoms has commenced in the hope to help doctors better diagnose patients for optimal care and treatment outcomes. View it here.

Williamson Community Leadership Program

The WCLP is a leadership development program that provides a unique year of leadership–focused activities that are designed to develop and connect leaders across sectors and generations. For more information click here.

New Book: I’m Running Out of Time

A new book about the experiences of a new mother who was told by doctors that her child was born with Hunter Syndrome, an extremely rare and terminal illness. For more details click here.

New Book: Rare Disease

This book gives insight into what life is like for families that have a member with a rare disease as it follows the journey of 13 families who have one or more children with a rare disease called Mucolipidosis, as they wade through the erratic diagnosis process, medical muck-ups, endless pain, a plethora of medical appliances and home modifications, special education, multiple hospitalisations and surgeries, unrelenting stress and the ever-present fear of death. For more info click here.

The Other Film Festival

The Other Film Festival is the big party where everyone gets invited. The festival programs the very best new cinema about the lived experience of disability from around the world. The festival screens these films in the most accessible way possible, delivering global best practice in meeting the access requirements of all patrons. All speeches are Auslan interpreted, all films are captioned, all films are audio described and the venue is fully accessible. Inclusive, accessible and welcoming, the festival reveals how disability looks right now.
When: Wednesday 3rd December – Sunday 7th December
Where: Melbourne Brain Centre (fully accessible), Kenneth Myer Building, 30 Royal Pde, Parkville

View the program and buy tickets here.

OFF is also seeking volunteers! Volunteering at OFF is a fantastic opportunity todevelop knowledge and skills in the community arts sector. Shifts are generally about four hours and a light meal is provided.

Volunteers who work for one shift will receive a day pass to the festival. Volunteers who work two shifts or more will receive a full festival pass (not including Opening Night). If you’d like to register your interest or require any further information, please email Volunteer Coordinator, Don Kohlmann, at

The Ripple Effect

An interesting publication for health professionals working with families at the time of a child being diagnosed with a syndrome, disability, or illness. Read it here.

Getting a Life with Asperger's

Jesse Saperstein writes about what it was like for him growing up with Asperger's syndrome and gives useful advice on how to navigates life's challenges for others with the same condition. To buy and read more about his books, click here.

Information Forum For Women With Early And Secondary Breast Cancer - Canberra, ACT

Date: Thursday 27 November 2014
Time: Registrations open from 9.00 am
Forum Program:

9:30 am - 2:00 pm - information session for women with early and secondary breast cancer.

2:00pm  - 3:00 pm - additional information session for women with secondary breast cancer.

Venue:  National Museum of Australia

Lawson Crescent, Acton Peninsula, Canberra


Medical Oncologist, Assoc. Prof. Nicholas Wilcken - Hear about the latest in treatment and care
Cancer Social Worker, Dr Carrie Lethborg - Learn about ways to improve emotional wellbeing
Olympian and breast cancer survivor, Raelene Boyle


Plenty of parking available on site


Places are limited so register early to avoid disappointment. Partners, family and friends are welcome.

Online registrations are now open

Kids in the Syndrome Mix of ADHD, LD, Autism Spectrum, Tourette's, Anxiety, and More!: The one stop guide for parents, teachers, and other professionals 

Dr Kutscher provides accessible information on causes, symptoms, interactions with other conditions, and treatments. He presents effective behavioural strategies for responding to children who display traits of these disorders – whether at home, at school, or in other settings – along with case vignettes and practical tips. Read more here.

Discount Offer for Fragile X Association members
  • Receive 15% discount and free delivery
  • Enter FX15 at the online checkout or quote over the phone
  • Valid until 20 December 2014
02 9997 3973

Online training for Special Educational Needs

These online training courses support teachers and educational personnel in Victorian government schools in responding to the diverse additional needs of students. Click here for more info.
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