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GSNV Bits & Pieces

APRIL 2014

In this edition:

  • From the team
  • Support group news
  • In the media
  • Conferences, seminars, workshops
  • Resources
  • Community
  • Research
  • Seeking contact
  • GSNV calendar
Welcome to the latest edition of the GSNV E-News Bulletin Bits and Pieces.  We present in this edition a numbers of dates, events and conferences to forward plan but in particular a new and important awareness day which we believe should become a permanent fixture on our international awareness annual calendars; 'Undiagnosed Children's Awareness Day'.  Help us support Syndromes Without A Name Australia (SWAN) families in recognition of undiagnosed children and help them unroll the mystery and odyssey in achieving a diagnosis. The GSNV is most pleased to support the SWAN event in Victoria on Saturday the 26 of April 2014 and will proudly open the day to all attendees.  Please join us in the fun! 
In the coming weeks the GSNV will sadly say goodbye to Emily Higgs who has secured a full time role in Genetic Counselling.  Thank you Emily for your incredible contribution and unwavering commitment to our team; every day working with you has been a joy. 

Although we are very sad to say goodbye, the GSNV is fully supportive of the career progression of our staff who come to us as graduates and have the opportunity to develop wider skills and experience in preparation for professional Genetic Counselling roles.
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PWSA Vic seeking Volunteer President

written by Tina Costanzo

The Prader-Willi Syndrome Association of Victoria is a progressive Not for Profit, that was established 39 years ago.  We have an enthusiastic parent board with PWS children of various ages and members across Victoria, South Australia and Tasmania.  Over the past few years, we have been able to provide 57 Apple IPADs to families, run a PWS TimeOut Camp, – with the second one due to take place this weekend and various awareness and fundraising day events.  We are in a solid financial position.
 
To pursue my interests in other areas, I would like to transition the role of Volunteer President to someone who is able to provide the vision, leadership and enthusiasm for our families and continue to provide the desperate support that is needed.  A knowledge of PWS would be advantageous but not required.  
 
For those of you attending the PWS TimeOut Camp this weekend and wish to speak with me, I would be happy to do so.
 
If you believe you can contribute for a minimum of 12 months, then please do not hesitate to contact me directly and I can provide you with further information.
My mobile is 0438178374 and my email is tcostan1@bigpond.net.au

Neuromuscular social support group for young adults


The GSNV in collaboration with Genetic Counsellors and Clinicians from the Royal Melbourne Hospital, are currently working on establishing an informal social and connect group for people in their 20s/30s with conditions affecting walking, balance, coordination and speech - a chance to meet up and chat with people with similar experiences.

The aim of this group is to connect people with neuromuscular conditions for informal peer support. We will also hold webinars facilitated by health professionals every few months on topics suggested by group members. Stay tuned for the first webinar in late July! Topics can include issues such as: How or when do I tell others about my condition? Will my symptoms get worse? Living with uncertainty about the future. Coping with physical dependence on other people including parents.

This group is open to anyone with a condition affecting the muscles and nerves, such as ataxia, hereditary spastic paraplegia, spinal muscular atrophy, Charcot Marie Tooth syndrome, muscular dystrophy, mitochondrial conditions and other rare conditions of the nerves and muscles.

For more information please click here

Undiagnosed Children’s Awareness Day - Saturday 26 April 2014


We aim to raise awareness in the community about the large number of children in Australia and around the world who are living without a medical diagnosis for their genetic condition.

According to current estimates, 1 in 20 children are born with a genetic disorder, yet we only hear about the most common syndromes, or the ones that receive the most funding or have the biggest lobby groups.  Of those children who present to geneticists with syndromic features, 60% may not ever receive a diagnosis.  Imagine what it would be like to have a child with a syndrome without name and an unknown future.

This is our chance to speak out and increase community awareness of the large number of children who do not have a diagnosis.  The facts are that medical science is not moving fast enough and is too expensive or not accessible enough for Australian children, particularly those who are regressing. Other children may have; complex medical needs, intellectual, physical, communication, behavioural and sensory difficulties.  The future for thousands of children who are undiagnosed is a mystery.

Join us at Quarries Park, Ramsden Street, Clifton Hill on Saturday, 26 April between 10.00am – 12.00pm and help support our Roll Off down the hill at 10.30am to unroll the mystery of undiagnosed children. 

More information can be found at the Syndromes Without A Name (SWAN) Australia website: swanaus.com.au, Tel: 0404 280 441.
RSVP to info@gsnv.org.au

Cancer News


Rare Cancers Australia released a report 'Just a little more time' on the 25th of March that said there has been little improvement in survival rates over the past 20 years for rare and less common cancers.

click below to see the full infographic
Click here to see the full infographic
In this Radio 2SER podcast Associate Professor Clare Scott discusses how genomics could assist rare cancer research.

A new study released recently in the Journal of Clinical Oncology argues for the use of a survivorship app to integrate the survivorship follow up and co-ordination of care. Patients can use the app to keep track of their appointments and to co-manage their own follow-up. Researchers believe that this offers the possibilities of individualised education and healthy lifestyle support.

A new gene (SCCOHT) involved in early onset ovarian cancer has recently been discovered. For more information see this article in the McGill Reporter.

Personalised medicine


A recent article on the CNN website discusses the 'diagnostic odyssey' that families go through when a child's diagnosis remains unknown. This story also outlines how new genetic diagnoses are being made with the help of genome wide sequencing.

The Walter and Eliza Hall Institute are hosting a new 'Illumination' series of public forums, the first of which explored how personalised medicine is set revolutionise how diseases are diagnosed and prevented. Watch it here.

A new treatment for Autism


A recent Scientific American article describes results from a new study that suggests that low doses of antianxiety medications that are already available on the market, such as benzodiazepines may help with the social behavioural symptoms of Autism.

NDIS update

The government can afford the NDIS, they just don't want to raise taxes or prioritise it above other spending commitments, says economics editor Alan Mitchell.

An independent review of the capabilities of the National Disability Insurance Agency’s (NDIA) management of the Scheme has also raised concerns that the NDIA will be insufficiently prepared for the next stage of the roll out of the Scheme. The report can be found here.

Website: conference.ha.org.au
Flyer – download

PATIENT EXPERIENCE


Consumer Perspectives Transforming Healthcare 


One Day Forum

SAVE THE DATE - Don't miss this fantastic opportunity to learn how to capture and use patient experience to improve your services! 


Thursday 15 May 2014

9:00 am - 4:30pm 

Victoria University Conference Centre
Level 12, 300 Flinders Street
Melbourne 

This one day forum will feature presentations and workshops by experienced consumers and health professionals, and include the following sessions:
  • What is the patient experience and why is it important?
  • Implementing patient experience improvements
  • How can we best capture patient experience?
  • Moving from vision to reality: A systematic approach to improving patient experience 
  • How do we use patient experience data to transform healthcare and improve the quality of care? 
Confirmed speakers: 
  • Alan Lilly, CEO Eastern Health
  • Alison Amos , CEO and Two Consumers, Ovarian Cancer Australia
  • Jen Morris, Healthcare Quality Advocate in healthcare complaints handling, open disclosure, informed consent
  • Dr Peter Hunter, Geriatrician, Alfred Health
  • Tanya Hendry, Manager Consumer Participation & Patient Experience, Eastern Health
Full program will be available on our website shortly. See you in May!
 
Click to Register!

The inaugural International Clinical Cardiovascular Genetics Conference will be held in Brisbane from 6 to 8 August 2014.

Confirmed keynote speakers include Dr Silvia Priori, Director of Molecular Cardiology and Electrophysiology Laboratories at Fondazione Salvatore Maugeri in Pavia, Italy, and a leader in the field of primary arrhythmogenic diseases and Dr Euan Ashley, Associate Professor of Medicine (Cardiovascular) and of Genetics at the Stanford University Medical Center: internationally recognised for his research in genetic heart diseases, particularly cardiomyopathies, and the impact of new genetic technologies on patient care
 

The Scientific Program will include:

                                        • Diagnosis and detection of cardiovascular genetic disease
                                        • Risk stratification and management
                                        • Novel therapeutic approaches
                                        • Molecular testing and the role of next generation sequencing
                                        • New research developments
                                        • Multidisciplinary models of care 

For further details please click here

The Cochrane Cystic Fibrosis & Genetic Disorders Group


The Cochrane Cystic Fibrosis & Genetic Disorders Review Group comprises an international network of health care professionals, researchers and consumers preparing, maintaining, and disseminating systematic reviews of randomised control trials in the treatment of cystic fibrosis and other genetic disorders.

For more information please click here

NSW ACI Launches Pain Website for Consumers and Healthcare Professionals

 
Image
A new website for consumers and healthcare professionals – Need help for your pain? – will provide much needed information and assistance to people living with chronic pain.
 
Launched this week by NSW Minister for Health Jillian Skinner, it represents another outcome of the carefully constructed NSW Pain Management Plan.

Developed by health practitioners and pain specialists under the leadership of the ACI Pain Management Network, with input from consumers, the website offers the latest evidence-based scientific knowledge on how to manage chronic pain, as well as information about where to go for help in New South Wales.

Read More
 
World Down Syndrome Day was celebrated on Friday the 21st of March. This 21st day in the third month of the year was chosen because it helps highlight the triplication (trisomy) — also known as the "extra chromosome" — of the 21st chromosome, which causes Down syndrome.

Events celebrating the day were held all over the world. In honour of this event a number of media items were posted on the internet. Take a look at the "Happy" video and the Chromosomes R US video. For more see youtube and on twitter

References:
Mashable, Huffington Post

Anne Smith's visits Melbourne - SMS Family day


The GSNV is pleased to announce a visit to Melbourne by Ann C.M. Smith, MA, DSc (Hon), CGC, clinical practitioner and researcher working on Smith Magenis Syndrome (SMS). Ann regularly visits Australia and will be in Melbourne on Tuesday 27th May to Sunday 1st June 2014, where she will present a Victorian Clinical Genetics Services (VCGS) Functional Genomics seminar (this is a clinical/professional session) and will also attend an SMS family picnic. Full details of the SMS activities during Ann's visit to Melbourne will be announced in GSNV communications and on our website, stay tuned!

The 2014 Joan Kirner Social Justice Oration: May 26

by The Hon Julia Gillard, Former Prime Minister of Australia

The Joan Kirner Social Justice Oration was introduced to the Communities in Control program in 2011 to shine a light on the people, groups and initiatives pushing social reform uphill - to inspire those who care about equality to keep on pushing.

In 2014, the Joan Kirner Social Justice Oration will be delivered by Australia's first female Prime Minister, The Hon Julia Gillard.
You can hear Ms Gillard deliver the 2014 Joan Kirner Social Justice Oration at Communities in Control in Melbourne on May 26. The oration was named for one of Australia's most enduring social justice campaigners, former Premier of Victoria The Hon. Joan Kirner AC. Selfless, ceaseless, clever, compassionate - Ms Kirner is the embodiment of the ideal social justice campaigner. She will join us on May 26 to provide a response to Ms Gillard's speech.

You can find out more about the 2014 Communities in Control program and book your spot at: www.ourcommunity.com.au/cic2014
 

Haemoglobinopathy Research


People with haemoglobinopathies don’t produce enough or make abnormal haemoglobin (e.g. thalassaemia and sickle cell disease), which can cause a wide variety of health issues. They may have very high health care requirements throughout their lives, including needing many blood transfusions and experience serious complications from the disease itself as well as from the necessary lifesaving treatment.

The Haemoglobinopathy Registry (HbR) aims at forming and important framework for future research to improve patient care. Patient information will be collected and analysed to find out which strategies work best for patients. This program will also bring together a network of Australian health care professionals with a special interest in haemoglobinopathies.

References:
http://www.torc.org.au/HbR
Thalassemia Australia Summer Newsletter 2014 Volume 6 Issue 17

An update on the national Haemoglobinopathy Registry project

by Ri Scarborough, Haemoglobinopathy Registry Project Officer, Monash University

By now, many of you have already heard about the national Haemoglobinopathy Registry project, being launched by the Transfusion Outcomes Research Collaborative based at Monash University with our hospital partners.  A/Prof Erica Wood, a haematologist and transfusion medicine specialist,
who also works at Monash Medical Centre, is leading the project at Monash University, with the support of a national steering committee of haemoglobinopathy experts.  The steering committee is chaired by Prof Joy Ho from Royal Prince Alfred in Sydney, whom many of you will know.  Even more of you will know Dr Jim Vadolas from the Murdoch Institute at the Royal Children’s Hospital, who has also recently joined the project steering committee.  We look forward to Jim’s input.      

We also wish to convey our sadness on the passing of Maria Kastoras, who had been an enthusiastic supporter of the Haemoglobinopathy Registry project, from the first time Erica and I spoke with her about it, in early 2013.  We deeply regret that Maria did not live to see the benefits that the project will bring to the entire Australian haemoglobinopathy community that she cared so much about.   
 
Ten major hospitals have signed up for Stage 1 of the project, including Monash Medical Centre (other hospitals will be added later):
If you are receiving care at any of these hospitals, over the coming months, you will be invited to participate in the Haemoglobinopathy Registry and will receive a brochure about it.  With your agreement, we'll be collecting information such as when you were diagnosed, what your exact diagnosis is, any complications you have had, and what medications and transfusions you receive.   In Stage 2 of the project, we will ask your doctors for some additional information, such as results of scans or echocardiograms.
 
We had hoped to be able to begin collecting patient data from our pilot sites, Monash Medical Centre and Royal Prince Alfred Hospital, before Christmas last year, but due to some unforeseen delays, this is now likely to begin in March.          
 
Your participation in the registry is voluntary and if you decide to participate now you can still opt off at any time.  All personal and medical information is kept strictly confidential.   We do hope that you will allow us to learn from your story.  
 
If you have any questions about the project, please email me on hbr@monash.edu

Participate in Online Research! Win a Tablet!


Megan Jackson is a PhD student from the University of Canberra who doing some research into ways that schools could work better with adolescents living with critical or chronic illness. She is looking for young people with chronic illness, their parents, teachers and medical specialists to complete an online questionnaire (scroll to link at the bottom of the page to the section titled “Current Postgraduate Research Projects”).

All survey responses are confidential, though there is an option for providing your contact details if you would be willing to be interviewed later, and so that Megan can get the tablet computer to you if you win.

If you have any questions about the research, please feel free to contact Megan at: megan.jackson@canberra.edu.au or her PhD supervisor, Dr Chris Kilham, at: chris.kilham@canberra.edu.au.

Participate in a research study exploring the value of assessing and addressing a person’s religion and spirituality as part of a genetic counselling session.


A goal of this study is to find out if people’s religion or spirituality affects the decisions they make in genetic counselling and if it has an impact on adjusting to the genetic condition in the family. A second goal is to find out if people want the genetic counsellor to address their religion and spirituality during the session.

Only people who have taken part in a genetic counselling session with a genetic counselor are eligible for this study.

The study is being conducted by researchers at Wayne State University in Detroit, Michigan. Taking part involves completing a web-based survey that includes questions about the general reason for your/your relative’s genetic counselling session and how important you think religion and spirituality is in genetic counselling. Completing the survey should take between 5-20 minutes. There is no direct benefit to you in participating in this study. However, your opinions on this topic may guide future genetic counselling practice with regard to addressing religion and spirituality.

To take the survey click here

If you have any questions about this study contact Amanda Bartenbaker, the principal investigator of this study at +1-313-577-6298 or abartenb@med.wayne.edu.

Connecting Up Adolescents (CUpA) Photo Comp!!


Throughout April CUpA are running a photo comp to help promote Connecting Up Adolescents!

Photos should demonstrate the themes of 'Support' and 'Positivity' and reflect the lives and interests of teenagers and young adults.

To be eligible for the competition:
1. You must be aged 13-25 (with or without CF)
2. Photos need to be sent via email to Louisa, CUpA Project Coordinator - louisa@cfv.org.au
3. Photos must be minimum 640 x 480 pixels
4. You must send your name, date of birth and contact details along with your competition entry
5. Photos must be received by midnight on Monday 28th April

First prize is a $200 JB HiFi voucher, with prizes also for 2nd and 3rd place getters. Photos will be judged by a panel and the top ranked images will be used on the Facebook page and in other CUpA promotional material, with a photo credit going to the photographer.

If you'd like to submit and entry, or would like to know more, please contact Louisa on louisa@cfv.org.au
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.
 
  •        Bernard–Soulier syndrome
  •        Bullous pemphigoid
  •        Monilethrix
  •        Parry Romberg syndrome
  •        Pyrrole disorder
  •        SMMCI - solitary median maxillary central incisor syndrome
  •        Usher Syndrome Type 1    

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 phoning (03) 8341 6315 or by emailing info@gsnv.org.au
For a listing of support groups in Victoria see the links page on the GSNV website: www.gsnv.org.au
 
We are committed to your privacy
No details will be published without your consent, and those that are published will not include personal contact details. We will obtain consent from both parties before connecting individuals and families. 

Disclaimer
The GSNV works to support contact between individuals and families to share experiences. However, in individual cases, there may be differences in approach and opinion. Those placed in contact are alone responsible for the views and opinion shared.
                               For more events please see our website, www.gnsv.org.au
About the GSNV

The Genetic Support Network Victoria (GSNV) is a vibrant and active organisation committed to promoting the interests and well-being of people affected by genetic conditions. We assist individuals and families with the 'human', non clinical side of genetic diagnosis, living with a genetic condition, and gaining access to supports and services. The GSNV assists in the set up of new support groups and for those already established, helps to broaden awareness and assist in their activities. The GSNV is committed to improving the sense of isolation the community may feel in dealing with genetic conditions.
 
The GSNV is closely associated with a wide range of support groups, clinical genetic services and peak professional bodies.
 
Keeping up to Date

Please continue to notify GSNV of your change of contact details either by calling the GSNV office, or via email to info@gsnv.org.au. We have launched an exciting new website and database but are still finalising the upgrade.  Please bear with us as we make the updates.

The information and material presented in Bits and Pieces is intended for educational/information purposes only. The contents express the opinions of the authors who alone are responsible for the views expressed. GSNV does accept any legal responsibility for their contents.
Copyright © 2013 Genetic Support Network Victoria, All rights reserved.
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Murdoch Children’s Research Institute
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