Bits 'N Pieces March for ISSUU .pdf

BITS 'N PIECES A MONTHLY E-NEWSLETTER FROM THE GENETIC SUPPORT NETWORK OF VICTORIA

MARCH 2022 NEWS AND UPDATES: A MESSAGE FROM THE GSNV CEO. 2 STUDIES LOOKING FOR PARTICIPANTS. 3-7 ADVOCACY AND RESOURCES. 8-12 GSNV PROJECTS. 13-16 UPCOMING EVENTS. 17-19 CONTACT US. 20

A MESSAGE FROM MONICA FERRIE, CEO I hope you’ve found your start to 2022 recognisably different from the end of 2021.

It's certainly a different world bringing some new challenges, some things that are comfortably familiar and some things that are terrifyingly unfamiliar for recent generations.

Once again as our world continues to challenge, I’m reminded of the importance of connection, to be able to interact within a personal definition of safety, respect and support, while recognising the common values of the humanity we share. All those suffering hardships are in our thoughts.

I’ve been so inspired this year with the collaborative spirit of our community and all those supporting stakeholders; health professionals, researchers, industry, policy makers and I’m excited for the collaborative projects and pathways we have planned for the way forward.

Thank you for supporting our Rare Disease Day 2022 event, Global Themes, Local Action. We are so grateful to our community members and the presenters and facilitators who joined us. It was a wonderful occasion that included lots of sharing and learning. We look forward to sharing the outcomes with you and the influence they will have on the way forward for the GSNV.

One of the GSNV areas of focus in 2022 is equity of access with a particular lens around the vulnerable groups across our community who are under-represented in support group communities, survey respondents and support pathways. This includes our Indigenous, CALD, LGBTQIA+ and remote communities and we look forward to improving our support, understanding and representation across these groups. We’d love to hear of successful strategies and practice to share and learn from so please feel free to contact me so that we can ensure we are as inclusive as possible.

We can’t wait to get on with it and to walk the road ahead with you all.

Warm regards, Monica

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WE WOULD LIKE TO INVITE YOU TO TAKE PART IN A NEW SURVEY ON THE JOURNEY TO DIAGNOSIS FOR PEOPLE LIVING WITH A RARE DISEASE Obtaining a diagnosis can be a long and difficult journey for both patients and their families. By asking questions on the support you had, the difficulties you encountered, or on the consequences of being undiagnosed or misdiagnosed, we will be able to better identify how to improve the diagnosis journey of people living with rare diseases.

Please click here to participate in this short survey It should take no more than 20 minutes to complete and closes on 15 June 2022. contact: rare.barometer@eurordis.org

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WE INVITE YOU TO PARTICIPATE IN A RESEARCH STUDY: HEALTH CONCERNS OF INDIVIDUALS WITH NEUROFIBROMATOSIS 1 You are invited to take part in a research study to evaluate cancer worry, anxiety and quality of life related to cutaneous neurofibromas (cNFs) in individuals with NF1, or a control group.

You are eligible to participate because you have a clinical diagnosis of NF1, or you do not have NF1 and you wish to be part of a control group for this study.

If you would like to participate in this study, we would like you to complete an online questionnaire at the following URL: bit.ly/NFconcerns. This survey has questions about your experience of NF1 and will take 15 to 20 minutes to complete.

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WELCOME TO THE STUDY FOR ADULTS WITH A CORPUS CALLOSUM DISORDER Researcher Maree Maxfield (m.maxfield@student.unimelb.edu.au), PhD is interested in understanding the quality of life of adults with a Corpus Callosum Disorder (CCD).

For this study, you will be asked to answer some questions about yourself and your quality of life. You will need to do this by yourself without assistance from another person. Your responses will be kept completely confidential.

This study should take you around 30 minutes to complete. You will receive a $20 voucher for your participation.

Partcipate Here

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SUPPORTING FAMILIES THROUGH GENOMIC TESTING

Parents or legal guardians of children who have had genomic testing since January 2017 are invited to participate in a research study called “Supporting families through genomic testing”.

The study aims to understand how genetic services support families of children with rare conditions in Australia.

The study involves completing a survey about your experiences with genetics services, including preparing for testing, receiving your child’s genomics results, and any follow-up care provided by genetics services in Australia.

The survey will take approximately 20 minutes to complete and can be completed online by the survey link here.

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HELP SHAPE HOW THE INFORMATION ON CLINICAL TRIALS AND HUMAN RESEARCH IS SHARED WITH THE COMMUNITY

The Australian Commission on Safety and Quality in Health Care (the Commission) is conducting national consultations to scope the requirements for a national health and human research platform to be called the National One Stop Shop.

The aim of the One Stop Shop is to make it easier for all Australians to learn about and connect with all health and human research.

The purpose of this survey is to collect input from community members about the proposed National Clinical Trials and Research Registry and the proposed National Clinical Trials Front Door.

It will take around 10 minutes to complete.

Participate Here

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RareConnect is a safe and easy to use online platform for rare disease patients and their families to connect with others and to share experiences or knowledge.

RareConnect offers its users a unique experience due to the platforms disease-specific online communities available in 13 languages.

CONNECT HERE

Get involved in RareConnect Sign up as an individual or as an advocacy organisation Start a community for a rare disease in partnership with us Help us translate people’s stories in any language. Become a volunteer translator!

Get the latest RareConnect updates Browse the full list of communities No community for your rare disease? Post your call in the General Discussion community

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Carer Gateway program Thank you to those who joined our recent 'Meet the Experts' series. The session was presented by Carer Gateway, a government-funded service for carers. Carer Gateway can support carers in the following ways: Emergency Respite Carers Counselling Carer Coaching In-person support One-off practical support e.g. a piece of equipment or planned respite Supports are based on a case by case basis.

You can access the service by calling 1800 422 737 or visit their website.

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Agnes is a global health advocate and consultant specialising in Sickle Cell Disease (SCD) and mental health. She is also the founder and CEO of Australian Sickle Cell Advocacy (ASCA) ASCA was formed because of Agnes’ experience with Sickle Cell Disease when her daughter was diagnosed in late 2009.

A mother of four children, Agnes became a registered nurse to understand Sickle Cell Disease.

ASCA is dedicated to supporting and representing those affected by Sickle Cell Disease with a vision to reduce the impact of Sickle Cell Disease on all Australians.

Hear more about Agnes' story in Episode 4 of The Patient Voice Podcast, available on Spotify, Apple Podcast, Google Podcast, or your favourite podcast app on February 25, 2022.

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WHAT IS THE JOIN US REGISTER?

Join Us is a simple online register that helps researchers prevent, treat and find cures for disease. For you, your family, your neighbours and for everyone. Join Us today. https://www.joinus.org.au/

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TAKE 5 MINUTES TO HELP PASS MAEVE'S LAW We urgently need your help to ensure that the Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 is passed through the Senate during the parliamentary sitting days on Tuesday 29 and Wednesday 30 March.

These are likely the final sitting days of this Government and the last chance to introduce mitochondrial donation this year. We cannot afford to let Australian families wait any longer for this life-altering technique.

Follow the link below to contact the Senator(s) in your state or territory. This will only take 5 minutes of your time and uses an email template that you can tailor with your personal details.

Contact your Senator

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17 GENOMICS IN SCHOOLS: EDUCATING THE NEXT GENERATION

The GSNV is excited to bring extended lived experience of genomics into Victorian high schools and to raise the awareness of new and emerging technologies in health and society.

Please share within your networks by directing them to: http://www.thegeneticlink.org.au/educators

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GSNV VOLUNTEEr PROGRAM: NOW RECRUITING FOR 2022 The GSNV Volunteer Program is an opportunity for our support groups to source suitable volunteers to assist them in various tasks and projects.

please email the following documentation to info@gsnv.org.au by April 1st 2022 for consideration: A written expression of interest cover letter outlining your interest in volunteering, any skills or knowledge you can contribute and your intended level of commitment A current CV A copy of your Working with Children Check (volunteer check is free of charge)

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PUTTING PATIENTS AT THE CENTRE VIDEO SERIES This Framework provides a guide to encourage efforts to facilitate opportunities to learn and improve, and for people with lived experience of genetic and rare conditions to work together with key stakeholders in health as equal partners.

ACCESS RESOURCE HERE

This Framework services as a guide to be implemented by the GSNV in partnership with key stakeholders, so that people with a lived experience of genetic and rare conditions, influence and have leadership in health service decision making and delivery and their stories and narrative are heard.

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EUROPEAN CONFERENCE ON RARE DISEASES (ECRD) REGISTRATION IS OPEN! JUNE 27-JULY 1 2022

Sign up to join online the largest, patient-led rare disease policy event, taking place from 27 June - 1 July 2022, which has been designated as an official event of the 2022 French Presidency of the EU Council.

Register here

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THE SWAN PORTRAITS EXHIBITION OPENED ON RARE DISEASE DAY AND WILL RUN UNTIL APRIL 14TH

When artist Crystal Lina met Kat Barlow, a friendship was formed and Crystal wanted to pay forward an act of kindness. They imagined how much it would mean to other families to capture the beauty and diversity of their children. SWAN Portraits ran in person in 2020, and is now brought to you online. Buy a ticket here for access to the story behind the exhibition, artist videos, information on the artists and SWAN children involved and the portraits themselves. Money raised from this exhibition will go towards our hospital care pack program.

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CONTACT US SUBMIT AN EVENT UPDATE YOUR SUPPORT GROUPS DETAILS ON OUR DATABASE

BECOME A MEMBER DONATE

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