- From the team
- Support group news
- In the media
- Conferences and seminars
- Seeking contact
- GSNV Calendar
From the team
Dear GSNV community,
I love this time of year. It’s a time of reflection on what’s been and a time of hope and optimism about the possibility of the future.
I’m a mad planner and goal setter and will settle down with the GSNV team in mid-December and for myself, personally and professionally by the end of the year to document the year that’s been and work through where we and I want to be at the end of 2018.
A year is made up of diverse people and experiences – good and bad. I try to measure my year on the basis of who I’ve become over the year as a result of those experiences. What have I learnt and how am I now different than at the same time the year before? It’s my way of taking personal accountability for my results. If I didn’t achieve something was the journey at least worthwhile…
Once I’ve looked back its time to look forward, what can I do and be next year with the new me. I love that! I love the opportunity to reinvent and reinvigorate that a new year brings. Not that we can’t do these things as the year unfolds of course but I love the rhythm of setting things out for the year ahead.
Next year there will be much to do and I feel like we at the GSNV will need to be ready and prepared as our world continues to change and challenge.
You may be aware that the COAG Health Council (i.e. all health ministers) endorsed the National Health Genomics Policy Framework and its public release on Friday 3 November. The framework and supplementary information are available for download here
(scroll down to National Health Genomics Policy Framework 2018-2021
The next step is to develop an implementation plan for the framework, which will inform priorities, timing and funding. This will most likely be available soon. The GSNV is delighted to be involved and is the consumer representative on the National Genomics Policy Framework Project Reference Group. Louisa will represent us on this group and make an important contribution on behalf of health system consumers.
Please check out the information later on in Bits and Pieces about how you can be involved through the Commonwealth Department of Health consultation forums for the Implementation Plan. It’s your opportunity to have your say and contribute your experience to the broader debate.
You may find that on trying to register that the event is sold out – we are hoping that a larger venue may be found so please check in again if this is the case. The Melbourne consultation is 14 December and details can be found in the ‘Community’ section of this bulletin… I hope to see you there.
It’s so hard to believe that the year is almost over. It’s been a busy year and 2018 will prove to be just as busy I am sure. One thing I know already is that for the GSNV and for me, 2018 is going to be a simpler year – more focused – but that’s just for starters. Let the planning begin…
I wish for you and those who are important to you, the joy and peace of Christmas, the love and laughter of family and good friends and the challenge of new ideas and experiences. Have a safe and happy Christmas and a rejuvenating break if you are lucky enough to have one.
See you in the New Year, ready to rock and roll all over again.
The GSNV will be closed from the 21st of December 2017 until the 9th of January 2018. All enquiries will be attended to as soon as possible. We appreciate your understanding.
Support group news
New Facebook Group Formed – Gaucher Australia
All Australian Gaucher patients and carers are invited to join the newly formed Facebook Group ‘Gaucher Australia’
. This moderated, closed Facebook group is a welcoming place for the Australian Gaucher community to share information, provide support – and most importantly, connect with each other. This group is developed and moderated by Rare Voices Australia (RVA), in collaboration with Gaucher Australia Association.
17th March 2018
‘Understanding Prader-Willi Syndrome’ seminar
For ALL people associated and interested in PWS. A three-hour Seminar based on ‘PWS and the impact of biology on thought processes’. Dr Hödebeck-Stuntebeck and Dr. Soyer will be providing valuable insight on how people with PWS think. Whilst PWS’ most well-known symptom is overeating, it’s not the only symptom. The Dr’s will be addressing all the other symptoms associated with PWS and why those symptoms result in unique behaviours for people with PWS. Find out more here
In the media
New Hunter syndrome gene therapy trial
Scientists in the US have recently performed an experimental gene therapy on a man with Hunter syndrome. This was the first time that genes in cells inside the body have been modified. In previous gene therapy trials, affected cells are removed from patients, altered in the lab, and are then returned to patients. People with Hunter syndrome, lack a gene that makes an enzyme that breaks down certain carbohydrates. These excess carbohydrates build up in cells and cause problems throughout the body. Patients may have frequent colds and ear infections, facial differences, hearing loss, heart problems, breathing trouble, skin and eye problems, bone and joint issues, bowel issues, and brain and thinking problems. In this trial, the gene therapy was delivered intravenously in an attempt to correct the gene in as many cells in his body as possible. Read more here
New gene therapy for skin condition
Two years ago doctors treated a critically ill boy with a devastating skin disease using experimental gene therapy to create an entirely new skin for most of his body in a desperate attempt to save his life. The doctors have now reported that the boy is doing so well that he doesn't need any medication, is back in school and even playing soccer. The boy had a rare, incurable skin disease called junctional epidermolysis bullosa, caused by a non-functional LAMB3 gene. People with the disease lack critical proteins that attach the outer layer of the skin to the inner layer, resulting in fragile skin with almost constant blisters and open sores. In the experimental therapy, the doctors took a small piece of the boy's skin from an area that was intact. In the lab, they added in a working version of his faulty gene to his skin cells (that have a supply of skin stem cells). They then grew sheets of the boy's skin, in much the same way skin grafts are grown for burn victims. In total, they grew close to a square meter of skin. The lab-grown skin was then transplanted onto the boy in multiple operations, ultimately covering 80 per cent of his body. Ten days later, the new skin begun to grow. After eight months, the doctors said that nearly all of the boy's skin had been generated by the modified stem cells. Read more here
Three parent babies
In 2014 we outlined
the technology and the ethical issues brought up by what has been coined 'three parent baby' IVF. This reproductive technique has the potential to help women who are affected with severe mitochondrial diseases to conceive healthy children. In 2015 Britain became the first country in the world to allow this controversial technology. This recently has been brought up again in the Australian media, where families affected by mitochondrial conditions are pushing for it to be approved for use in Australia. This article
also highlights the legal challenges that need to be overcome before the technology can be offered in Australia.
Euthanasia laws have passed the Victorian upper house
After more than 60 hours of debate, the state's assisted dying laws have passed the Victorian upper house. Under the laws, terminally ill Victorians will be able to obtain a lethal drug within 10 days of asking to die after being assessed by two doctors. The bill has returned to the Lower House this week for ratification before becoming law. Read more here
: Yesterday, after more than 100 hours of debate, the bill had a low-key final passage through the Lower House. Read more here
25th-27th March 2018
13th CHARGE Syndrome Conference
Individuals, families, professionals and educators interested in the medical, research, educational, psychosocial and therapeutic aspects in relation to CHARGE Syndrome or multisensory impairment. Speakers will be presenting a wide range of evidence-based topics that reflect best practice in the field and will provide practical take-home strategies for families/carers. The conference is an opportunity for families to meet and network with others facing the same challenges, learn from professionals, and to leave armed with useful strategies. Find out more here
is designed to help you find, view and save trusted information about your prescription medicines.
Peer Action Groups
VALID is setting up Peer Action Groups for people with disabilities, their family members and supporters. The Peer Action Groups will be helpful to people who are interested in finding out more about the NDIS, as it is being rolled out in their area. Find out more here
Cardiomyopathy UK has issued updated factsheets on: Dilated CM, Hypertrophic CM, and, Arrhythmogenic Right Ventricular CM. There is also a new factsheet on “Myocarditis and cardiomyopathy”. These factsheets are basic introductions to the various conditions related to CM and are suitable for newly diagnosed people. They can be accessed here
14th December 2017
Implementation Plan: National Health Genomics Policy Framework consultation - Melbourne
The National Genomics Policy Framework Project Reference Group invites you to participate in a national stakeholder consultation process that will inform the development of the Implementation Plan for the National Health Genomics Policy Framework. Anyone with an interest or involvement in shaping decision making at a national and jurisdictional level on genomics policy, strategies, actions and services is invited to attend a forum. Find out more here
Respect Know Act Project Survey: Health Professionals
Health professionals have a depth of experience working with people in the process of making important healthcare decisions. ADACAS
want to find out about the experience and role of health professionals with the decision making process for people who may need additional support in making healthcare decisions. This could include, but is not limited to, people with intellectual impairment or dementia, people experiencing mental ill-health, or people with an acquired brain injury. If you are a health professional and you would like to complete this short survey please click here
Respect Know Act Project Survey: Decision Makers
ADACAS would like to know about how people with disability, or mental ill-health, or dementia, or people with an acquired brain injury make healthcare decisions. They want to learn from you to improve support for people to make their own healthcare decisions. If you would like to complete this short survey please click here
Respect Know Act Project Survey: Carers or Family
ADACAS would like to know about the needs and experiences of carers in supporting healthcare decisions. This will allow them to recommend changes that support a carer’s vital role and ensure availability of support when the person for whom you care is making a healthcare decision. If you are a carer or family member and would like to complete this short survey please click here
More than the sum of my parts: Women with disability from migrant and refugee backgrounds research project
People with disabilities face significant prejudice and discrimination that impacts their ability to realise their rights, reduces access to services, undermines wellbeing and can result in disability related violence. This project will work with women with disability as co-researchers to conduct in-depth interviews with other women with disability from a immigrant and/or refugee background to explore how different identities, being a woman, having a disability, and being from a migrant background, intersect to influence sexual and reproductive health and rights. To participate you need to be a woman with disability over the age of 18 with an immigrant and/or refugee background. You would be interviewed by a peer researcher and a woman with disability for approximately an hour and a half. To thank you for your time you will be offered a $40 Coles- Myer voucher.
For more information, contact the researcers:
T: (03) 9035 6670
T: (03) 8344 4010
The National Genetic Heart Disease Registry
If you or a family member have an inherited cardiomyopathy you may be eligible to take part in this registry. They are aiming to enroll every family with an inherited heart disease in Australia, which will assist Australian research groups learn more about these conditions. More information, including patient information sheets can be found at the website
. To get an enrolment pack please contact Dr Jodie Ingles or Laura Yeates. Molecular Cardiology Centenary Institute Locked Bag No 6 Newtown NSW 2042 Phone 02 9565 6185 Wednesday—Friday Email: firstname.lastname@example.org
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
- Cerebrotendinous xanthomatosis
- 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 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.