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Bits and Pieces December 2014

Contents

  • 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 Bits and Pieces and astonishingly, our last for 2014.

What a year it has been!  Our year in review and all the highlights can be seen our annual report, available to the public on the GSNV website. With the AGM behind us we are already focused on 2015 and achieving more in support of the genetics community. Click here to see the Annual Report. As the year draws to an end we  thank all our members, supporters and generous volunteers who have contributed greatly to our work and assisted the GSNV in achieving outcomes beyond its resources. We thank our collaborators and partners in continuing to work with us and support are goals and objectives.  We look forward to more of the same and better next year.

To all our readership we wish you a wonderful holiday season and a happy, healthy and peaceful 2015.



In Memory
The Genetic Support Network of Victoria is deeply saddened by the loss of Stella Young, an amazing young woman and shining light. Many communities are rallying at this time and recognising Stella’s remarkable achievements and indelible mark on this world. We pay homage to her awe-inspiring work and voice.


Support group news

2nd February, 2015
Motor Neurone Disease Information Night

Information session for people with MND, their family and friends. Click here for the flyer.

6th February, 2015
Flinders Five Golf Challenge

Help raise funds for Very Special Kids by playing golf. For more details see the website.

6th February, 2015
Spina Bifida Foundation Victoria Family Summer Camp

If your family has a child or teen with spina bifida then spina bifida Foundation Victoria would like to invite you to their Family Summer Camp.

The camp is to be held at the Phillip Island Adventure Resort and will cost $50 per person (with children aged under two years free) or $150 per family. All meals, accommodation, activities and entertainment are included in the price.

This weekend is always popular as it provides one of the few opportunities for families affected by spina bifida to get together in person to share information, advice and support, and of course, all the children have a great time.

Make your booking as soon as possible to ensure you don’t miss out. Contact spina bifida Foundation Victoria on any Monday, Wednesday or Friday before the 19th December - ph 9663 0075 or email info@sbfv.org.au to book or make enquiries.

7th - 9th March, 2015
Prader-Willi syndrome Time Out Camp

Organised by the Prader-Willi Association. Click here for more information or to register. 

21st March, 2015
Undiagnosed Children's Awareness Day

Save the date - 10.00am - 11.30am The Quarries Park Clifton Hill  VIC. More info to follow.

28th March, 2015
Great Victorian Rail Trail challenge

Register as a team or an individual and take on a 40km bike ride or 20km run from Yarck to Bonnie Doon supporting Cystic Fibrosis Victoria. Contact Sue for information or to register: dundo42@bigpond.net.au

8th May, 2015
Immune deficiencies foundation Australia “Touch of Elegance” Gala Ball

Save the date - details to follow - for inquiries click here.

28th - 30th August, 2015
Charcot Marie Tooth Disease youth weekend

A weekend for young people with CMT. Join in for activities like archery, giant swing, cable glide, canoeing, rock climbing and more. See the flyer here.
 

In the media

Hope for Muscular dystrophy therapy
Muscular dystrophy is a genetic condition where the Dystrophin gene is faulty and leads to the gradual wasting of muscles. Researchers have taken skins cells from a patient with Muscular dystrophy, converted them into stem cells and corrected the gene fault with gene editing techniques. They then injected these stem cells into muscles where they could provide some of the corrected Dystrophin gene product to help boost existing muscle tissue. Read more here.

New understanding in how the immune system recognises cancer
Researchers in the US have identified molecules on the surface of cancer cells which allow the body's immune system to identify and destroy them. They are able to predict using the cancer's DNA signature, which cancer will respond to drugs. Read more here.
 
New therapy for Angelman syndrome
Research in mice has shown that the fault in Angelman syndrome can be recovered using injections of Topotecan, a natural product derivative. Read more here

New chemotherapy for neurofibromatosis type 1 
A US research group has identified a new drug called Sirolimus as having promising ability to slow the growth of some of the benign nerve tumors seen in children and adults with neurofibromatosis type 1. Read more here.

Changes to the DSP
A recent review of Disability Support Pension recipients has identified 16,000 people as having the ability to work, and more than 8,000 have been told to get a job in an attempt to get those capable of working back into the workforce. Read more here.

A Canadian challenge to gene patents
A hospital in Canada is challenging the U.S. patent holders of a genetic test for long QT syndrome for the rights to administer the test in Canada. This challenge contrasts the the recent decision in the Federal Court in Australia that upheld the patent for BRAC1/2. Read more here.


Conferences

3rd - 6th February 2015
International Kawasaki Disease Symposium

Held in Honolulu, Hawaii and is FREE for parents. For more info and to register, click here.

9th - 12th April 2015
MPS & Related Diseases Conference

The conference will contain medical information about Mucopolysaccharide (MPS) & Related Diseases as well as plenty of opportunity for socialisation. There is a Welcome dinner on Thursday night. This is an informal night where old friends can catch up and new friends can be made. Friday night is the Fun Night, ‘Superheroes and Villians”, feel free to bring a costume. Saturday night is the formal Conference Dinner. Smart casual dress. Click here for the flyer.


11th - 12th April 2015

3rd Asia Pacific Prader-Willi Syndrome Conference

The conference theme is “From Better Start to Better Living” which symbolises the importance of giving our children the best start possible, leading onto a better life for them as adults and the current emphasis of looking for residential options. The conference provides opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise. Click here for more info.

26th - 28th June 2015
The 14th International Conference on Lowe Syndrome
The conference will include presentations by leading experts on medical care, the latest findings in research and group discussions regarding specific topics. Socializing opportunities are scheduled for Friday evening, with a parent party, and Saturday evening with the LSA Family Celebration. For more information, email Debbie Jacobs at dajtx@sbcglobal.net or see the website.

11th - 13th September 2015
2nd National Cri Du Chat Conference & Family Weekend
The conference will be held at Sea World Resort on the Gold Coast. Costs will be subsidised for families affected by CDCS so that they can meet face-to-face with others facing similar challenges for a weekend of education, celebration and recreation. For more info click here.

25th - 28th September 2015
Wolf-Hirschhorn Syndrome Support Group Family Conference
For more information contact whs-aust@hotmail.com or see the website.
 

Resources

New prostate cancer app
The Prostate Cancer Foundation of Australia (PCFA) has launched a new app to help men manage their disease. The app features practical tools that guide decision-making and self-care and has links to useful websites and includes videos of people talking about their experiences and daily motivation for the prostate cancer journey. For more info click here.

Super duper apps
Super Duper Publications makes fun, practical materials for speech language pathology (SLP), autism, articulation, auditory processing, vocabulary, speech therapy, learning disabilities, grammar, assessment, oral motor, apraxia, phonology, reading comprehension, IEP, early intervention, and dyslexia. For more info click here.

FREE eBook

The Kindle ebook version is free for a limited time - a gift from the author to celebrate Christmas. Get it here.

Work from home!
Enabled Employment @EnabledEmploy offers people with disability the opportunity to telework through their website.

Your stories website
Stories from people who’s lives have been transformed through participation in the National Disability Insurance Scheme trial sites. See more here.

Strengthening Disability Advocacy Conference resources 
The audio podcasts and trancripts from the Strengthening Disability Advocacy Conference : Champions of Change are now available:
Captains of Change
Working for Change
Not another Brick in the wall
Keynote Address with Graeme Innes

Score: physical activity for every ability
A new website developed by Disability Sport & Recreation, called Score, make it easy for you to quickly and easily search for accessible sport and recreation programs, providers and venues across Victoria. For more info email Jacinta Bradford score@dsr.org.au.

New resources for health professionals and new and expectant parents
A new website has been launched by Down Syndrome Australia that has resources for health professionals, expectant parents and those with a new baby with Down syndrome. Click here to find out more.

NDIS participant information
If you are considering becoming a participant in the NDIS, you may be interested in additional fact sheets that participants receive in their access kits. Find the list of documents here.


Community


#Session 1: 5th - 9th January 2015
#Session 2: 12th - 16th Jan
uary 2015
#Session 3: 19th - 23rd Jan
uary 2015
Autism friendly summer camp  
This camp is suitable for all school going student's form 6 years old to 18 years old, students from both main stream setting and special education setting are encouraged to join this exciting fun holiday program. For more info click here.

11th February 2015
My Life, My Choices
This is an information session on planning for future legal, medical and lifestyle decisions – understanding what you need to know to plan for your future care.
More information

12th February 2015
Caring for yourself workshop – just for carers
10am start (2hrs – please quote booking number #2422).
 
Do you take better care of the person you are caring for than yourself? If the answer is yes, you are invited to this workshop where we will explore why your health and wellbeing are important. We will also discuss and share strategies to help you care for yourself.

Where: Carers Victoria, Level 1, 37 Albert Street, Footscray
Enquiries and RSVP: 1800 242 636
Note: Participants need to attend without the person they care for.

28th February 2015
3rd Annual Rare Cancers Kosciuszko Challenge
Proceeds from this walk will help Rare Cancers fund cancer research and cancer treatments, and make a real difference. For more info click here.

14th March 2015
The Cotton Ball
The proceeds of the Ball will go towards supporting people with Epidermolysis Bullosa (EB) and their families. EB is a rare disease whereby the skin blisters and peels at the slightest touch. Living with EB has been likened to living with third degree burns. It is very painful, and sufferers must be bandaged every day with dressings to protect and medicate their wounds. For more info click here.

Expression of interest for business trainee-ship - Vision Australia
Vision Australia is seeking expressions of interest from recent school leavers over 18 years who are keen to complete a trainee-ship/internship in Business Administration, commencing early 2015. Located in Melbourne the position is available through the Vision Australia Disability Employment Service in partnership with the employer, and offers an entry into a career in the insurance and finance industry. The successful applicant will be supported by Vision Australia throughout the internship.

For more information about the trainee ship position, please contact Greg Brown on 8378 1217 or George Campbell on 8378 1219 at Vision Australia Disability Employment Service.
 

Research

Rare disease survey results
Earlier this year a survey was conducted to explore the experience of diagnosis for people who have a confirmed diagnosis of a rare disease. The results of this survey are outlined below (click on the image for a closer view):


Parents and carers of a child with a disability wanted for interview
Researchers are interested to know what carers' disability service currently does to support their child's health and well-being and what changes they would like to see to improve this support. This information will be used to develop a new model of care for disability services that will promote better health and well-being outcomes in children and their families. Volunteers will be asked to participate in either an interview or focus group anticipated to be 45 - 60 mins. A $20 gift voucher will be provided. More information or to register interest: Dana Young dana.young@unimelb.edu.au or 9035 9870 

Survey for bereaved parents
The purpose of this survey is to gather information on whether or not bereaved parents were informed about Sands at the time of the death of their baby or later and how they found this experience.  Feedback is required on how you received support (or didn't) and ways in which Sands could improve their services. Find the survey here.

Survey about Tarlov Cyst Disease
If you have Tarlov Cyst disease and you'd like to help out in this Spanish study please find the survey here.

Fabry Disease National Survey
Participate in a national survey that is aiming to better understand the experience and needs of people living with this condition. Click here for the survey. Three participants will be randomly selected to receive $250 Amazon gift certificates.

Inspire Patient and Caregiver Survey
Inspire would like feedback from patients and caregivers to inform medical progress. Click here for the survey.

15q 13.3 Microdeletion Syndrome survey
A research project is being conducted to obtain and analyse health information related to patients with 15q13.3 Microdeletion syndrome. Find the online survey here.
 

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
  • Hajdu Cheney 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 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


ABC Opens 'In Memory Of' Project

ABC Open publishes and broadcasts stories made by regional Australians. The ‘In Memory Of' Project invites people to share a story about a family member or friend who died in 2014. There are already some wonderfully touching stories posted on the website written by people to honour the passing of someone important to them.  

The project ends on 30 January 2015. 
More

Dementia Gippsland launch new website 

As part of the Department of Health Gippsland Dementia Plan 2011–2014, a website has been developed to meet the objectives to: provide direction to dementia policy and practice in Gippsland improve coordination and access to services for people living with dementia and their carers, and create client-focused services that go beyond program boundaries.

It is anticipated that this website will provide a central point for all information related to dementia in Gippsland, assisting service providers, those living with dementia, carers and the community.
More

Marveloo Mobile Accessible Restroom 

Maroondah Council has developed a mobile toilet and change facility for people with disabilities, enabling festivals and outdoors events to be accessible to all. It caters for people with a severe disability and their carer and has won numerous local government awards. Marveloo is available for hire by Public Authorities (such as a government department or a local government authority) and not-for-profit organisations.
More

A book for people with invisible chronic illness

A book for people with a chronic illness to help with navigating their medical care as well as way to improve their quality of life. Read more here.

Accessible tours for The Fashion World of Jean Paul Gaultier at the NGV 

An exhibition of the works of legendary fashion designer Jean Paul Gaultier runs until 8 February 2015 at the National Gallery of Victoria.

Audio described and Auslan interpreted tours are available in December and January, on the dates below. In addition the NGV provides free daily tours with the NGV Voluntary Guides at 11.30am and 2.30pm.

To read more about the exhibition, click here.

Venue:
National Gallery of Victoria, 
Location:
180 St Kilda Rd, Melbourne
Date:
Saturday 17 January 2015
Times:
10.30am: audio described tour for people who are blind or have low vision
1pm: Auslan interpreted tour for people who are deaf or hard of hearing.
Cost:
Exhibition admission fees apply
Bookings

 
Summer Studios 2015


It's summer! The sun is shining, and the studios are calling once again.

Join us this season at our favourite fully accessible studio at Living Learning Pakenham. For four whole days, Summer Studios will give you the opportunity to make art and mingle with likeminded creative friends. 

Whether you are an experienced artist, or just an artist at heart, Summer Studios welcomes you to enjoy a combination of painting, drawing, collage, sculpture and printmaking!

Facilitated and supported by experienced and trained staff, the studio will provide a safe, fun and social environment for all participating artists.

Included in the workshop cost are art materials and morning and afternoon tea. Please bring your own lunch – a fridge and microwave are available – and your own ‘art clothes’ or a smock.

Venue:
Living Learning Pakenham
Location:
6B Henry Street, Pakenham
Date:
Tuesday 6 January 2015, 10am – 4pm 
Wednesday 7 January 2015, 10am – 4pm 
Thursday 8 January 2015, 10am – 4pm 
Saturday 10 January 2015, 10am – 4pm
Cost:
$10 per workshop
Bookings:
To book a place at Summer Studios 2015, please contact Arts Development Officer Melissa Banks on 03 9699 8299 or email mbanks@artsaccess.com.au.

A Guide to Becoming More Than Your Diagnosis


What do you do when life hands you a diagnosis that turns your world upside down? You redefine everything. Certified educator and holistic health coach, Colleen Brunetti, M.Ed., C.H.C., specialises in supporting families, educators, and those living with chronic illnesses, by offering real world advice and lifestyle changes to those in need. Read more here.

Blog

Leticia Keighley, a mother of a child with Down syndrome writes about the importance of health professionals giving parents the most up to date advice and information. Read more here.
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