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Bits and Pieces December 2017

Contents

  • From the team
  • Support group news
  • In the media
  • Conferences and seminars
  • Resources
  • Community
  • Research
  • 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.

Monica Ferrie
CEO


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 herehere and 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, here and here. #BREAKING: Yesterday, after more than 100 hours of debate, the bill had a low-key final passage through the Lower House. Read more here.
 

Conferences




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.
 

Resources

MedSearch App
MedSearch™ 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 factsheets
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
 

Community



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.
 

Research

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:
Cathy Vaughan
T: (03) 9035 6670
E: c.vaughan@unimelb.edu.au
Sarah Khaw
T: (03) 8344 4010
E: sarah.khaw@unimelb.edu.au
Download flyer.

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: j.ingles@centenary.org.au
 

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.
  • 4q34 deletion
  • Arthrogryposis
  • 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
  • KCNA2
  • Megalencephaly Capillary Malformation (MCAP) syndrome
  • Milroy disease
  • Mitchell's disease (Erythromelalgia)
  • Moebius Syndrome
  • Neutral lipid storage myopathy
  • Neutropenia
  • Pantothenate Kinase-associated Neurodegeneration
  • Peutz-Jeghers syndrome
  • Polymicrogyria
  • Potocki-Schaffer syndrome
  • Renpenning syndrome 
  • Schizencephaly
  • 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 info@gsnv.org.au 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
 

Calendar

Click here to see the GSNV calendar of events.

CONNECT WITH US


OF THE

Anyone can become a member of the GSNV, and we'd love to have you on board too. Our current members include:
  • support groups
  • individuals and families impacted by genetic conditions
  • health professionals
  • students
  • interested individuals
  • members of the community
The membership fees are used to fund the GSNV Small Grants program that supports the vital work of support groups who are often under resourced and in need of a helping hand.
 
BI-ANNUAL PRINT NEWSLETTER
  • Keeps members informed and updated
  • Includes research, resources, services, and policy updates
PEER SUPPORT TRAINING
  • The GSNV runs peer support training every year, and it is free for financial members
SUPPORT GROUP SUPPORT
  • The GSNV assists with facilitated support group training
  • Support with setting up, incorporating and developing governance
  • Volunteer support and access for projects
  • Accessing resources
ACCESS TO MEMBERS ONLY RESOURCES ON THE GSNV WEBSITE

Find out more here.
 
We are also currently recruiting new board members for the GSNV committee of management. Please send your expression of interest to info@gsnv.org.au

First Step FREE Webinars


Are you in the early days of the journey with your child with a disability?

The First Steps workshops are for parents of children with a disability in the early years before school.

These FREE workshops will help you to understand how the disability services funding works, learn more about services and supports, meet other parents and build confidence. 

Find out more here.

Undiagnosed Through a Mother's Eye book


Through a Mother's Eye is my photographic journey; it is a constructed dreamlike reality that weaves together my personal experience of having ill children, the emotional turmoil felt by both myself and my children, and the experiences of not knowing what is threatening my children’s lives. The series reveals the complexity that undiagnosable, and life threatening diseases present to not just our family, but all families from one day to the next, as well as the challenges of the unknown and unexplained. To understand, through my eye's, what it looks like to watch my children fight for existence.
 
The book includes both fine art and photojournalistic images, and is a therapeutic journey designed for anyone who has been touched by a seriously ill child.  The images are created beautifully in photographic dreamscapes, drawn from not only moments of hope, but also from moments of darkness.

270mm x 230mm and 44 pages long, printed on art paper.  The photographic book is beautifully presented with perfect binding and contains never seen before images of Jenna and Jayda's journey, Volume I.
 
$29.00
Proceeds from every book sold will go to funding Jenna and Jayda's Liver Bear for seriously ill children, and Syndromes Without A Name.
Registrations are NOW OPEN for the 2018 event!

Take advantage of the Early Bird Offer and register for just $45! This price includes race entry, your official BONDS undies and t-shirt, and access to the after party! 

Don't wait, register NOW to take part in the craziest thing you'll ever do and help CTF (Children's Tumour Foundation) raise $500,000 to fight Neurofibromatosis!

Variety Heart Scholarships


Variety provides scholarships to children with an existing talent living with disabilities, chronic illness or financial hardship to achieve their full potential and to follow their dreams. Scholarships are awarded up to the value of $5000 in areas of Education, Sports and The Arts.
 
Who can apply?
  • Australian Citizens or Permanent Residents
  • Residents NSW or ACT
  • Aged 6 to 18 years
  • Demonstrate an existing talent in one of these areas; The Arts, Sport or Education
  • Download Guidelines
  • Apply here

Cert IV Scholarships


Organisations working in the social service sector are invited to take this opportunity to upskill their employees through a nationally accredited Cert IV scholarship.

The CHC43115 Certificate IV in Disability will run from April 2018 to March 2019 and the scholarships include:
  • 100% free tuition
  • Monthly on campus workshops
  • On-the-job training and assessment by RMIT staff
  • Mentoring support for your organisation and employees
  • Additional specialist content provided by Women with Disabilities Victoria and Victorian Aboriginal Community Controlled Health Organisations as well as Experts by Experience.
Applications are open to any Victorian-based not-for-profit social service organisation with preference will be given to VCOSS members.

For more information, contact Sally Thompson, Deputy Director, Sector Engagement and Capability Development
Future Social Service Institute on;
T: 03 9235 1003
E: sally.thompson@rmit.edu.au
Apply now or Download scholarships flyer.
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