Rare Voices Australia’s Post

July 7 to 14 is National NAIDOC Week, which celebrates the history, culture and achievements of Aboriginal and Torres Strait Islander people. NAIDOC Week is an opportunity for all Australians to learn more about Aboriginal and Torres Strait Islander communities. 👉 Go to the official NAIDOC Week website for more information: https://www.naidoc.org.au/ The 2024 NAIDOC theme is ‘Keep the Fire Burning! Blak, Loud & Proud’, a call to honour the enduring spirit of Aboriginal and Torres Strait Islander cultures. As acknowledged in the Australian Government's National Strategic Action Plan for Rare Diseases, Aboriginal and Torres Strait Islander people are a priority population of the rare disease sector. While Aboriginal and Torres Strait Islander people are not necessarily at greater risk of rare diseases, several factors increase the potential impact of rare diseases on Aboriginal and Torres Strait Islander people. The lack of research into rare diseases means our knowledge on which rare diseases are most prevalent among Aboriginal and Torres Strait Islander people is incomplete. Given the genetic basis of most rare diseases, research exploring this is vital. #NAIDOC2024 #NAIDOCWeek

GeneEQUAL is a #research program to help people with intellectual disability get better health care. Several studies are currently underway for: 👨👩👧 Families and support worker: https://lnkd.in/gYwTjarh 🩺 Health care professionals: https://lnkd.in/gGtnikKP 📚 People with intellectual disability: https://lnkd.in/gNSyYMYS Learn more about GeneEQUAL's research studies via their website: https://lnkd.in/gKrFeNk4

RVA Partner, Save Our Sons Duchenne Foundation, is hosting the 2024 National Duchenne Conference (the Conference) on 16 and 17 September in Sydney. The Conference will feature national and international industry experts and #healthcare professionals who will share their knowledge about #Duchenne muscular dystrophy. The Conference aims to give parents, young men living with Duchenne muscular dystrophy and professionals an interactive experience with both Australian and international experts. 🌟Visit Save Our Sons Duchenne Foundation's website for more information: www.saveoursons.org.au #DMD #RareDisease

𝟮𝟴 𝗝𝘂𝗻𝗲 𝗜𝘀 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗡𝗲𝗼𝗻𝗮𝘁𝗮𝗹 𝗦𝗰𝗿𝗲𝗲𝗻𝗶𝗻𝗴 𝗗𝗮𝘆 Today (28 June) is International Neonatal Screening Day, which highlights newborn bloodspot screening’s (NBS) role in access to timely diagnosis and appropriate treatment. NBS is an important program that supports the earliest possible diagnosis of some rare diseases and enables the best immediate treatment and care. Alongside other stakeholders in the rare disease sector, including many of our Rare Voices Australia (RVA) Partner groups/organisations, RVA has been advocating for increased sustainability, equity, transparency and consistency of screening for NBS for several years. Australian babies have been screened using NBS since the 1960s and while there is more work to do, several promising developments have been progressed in recent times, including the Australian Government’s investment of $25 million in the 2024-25 Federal Budget to support the continued delivery of NBS expansion and consistency of conditions. Additionally, for the first time in 60 years, Australia has an agreed national list of NBS conditions and there is specific funding to achieve consistency across the country, cementing Australia as a world leader in NBS. #RareDisease #NewbornScreening #Awareness #Education #Care #Support #Research #Data

🚩Common ‘red flags’ that can assist in the diagnosis of rare diseases A research article published in the 'Orphanet Journal of Rare Diseases'—'A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease'—𝐡𝐢𝐠𝐡𝐥𝐢𝐠𝐡𝐭𝐬 𝐬𝐞𝐯𝐞𝐧 𝐩𝐡𝐲𝐬𝐢𝐜𝐚𝐥 𝐚𝐧𝐝 𝐩𝐬𝐲𝐜𝐡𝐨𝐬𝐨𝐜𝐢𝐚𝐥 𝐞𝐱𝐩𝐞𝐫𝐢𝐞𝐧𝐜𝐞𝐬 𝐨𝐟 𝐩𝐚𝐭𝐢𝐞𝐧𝐭𝐬 𝐨𝐧 𝐭𝐡𝐞𝐢𝐫 '𝐝𝐢𝐚𝐠𝐧𝐨𝐬𝐭𝐢𝐜 𝐨𝐝𝐲𝐬𝐬𝐞𝐲'. These findings could be used to develop a clinical decision-making tool to support clinicians and improve the patient experience. 🩺 Read more about the findings and recommendations: https://lnkd.in/gCmgwUjV #RareDiseaseResearch #RareDiseaseDiagnosis #OrphanetJournal

𝗟𝗮𝘂𝗻𝗰𝗵𝗲𝗱: '𝗧𝗮𝗸𝗶𝗻𝗴 𝗔𝗰𝘁𝗶𝗼𝗻 𝗧𝗼𝗴𝗲𝘁𝗵𝗲𝗿 𝗧𝗼𝗼𝗹𝗸𝗶𝘁: 𝗜𝗺𝗽𝗿𝗼𝘃𝗶𝗻𝗴 𝗛𝗲𝗮𝗹𝘁𝗵 𝗮𝗻𝗱 𝗪𝗲𝗹𝗹𝗯𝗲𝗶𝗻𝗴 𝗢𝘂𝘁𝗰𝗼𝗺𝗲𝘀 𝗳𝗼𝗿 𝗔𝘂𝘀𝘁𝗿𝗮𝗹𝗶𝗮𝗻𝘀 𝗟𝗶𝘃𝗶𝗻𝗴 𝘄𝗶𝘁𝗵 𝗮 𝗥𝗮𝗿𝗲 𝗗𝗶𝘀𝗲𝗮𝘀𝗲' The Rare Disease Awareness, Education, Support and Training (RArEST) Project has launched the 'Taking Action Together Toolkit: Improving Health and Wellbeing Outcomes for Australians Living with a Rare Disease' (the Toolkit). The Toolkit was developed to show how the Australian rare disease sector has worked effectively together to advocate (speak up) for systemic change for people living with a rare disease. The Toolkit begins with case studies describing how Australian organisations brought about systemic change. It then describes four key approaches used by these organisations that may help with effective systemic advocacy, including tools that may be useful to practically apply these approaches. Read the Toolkit on Rare Voices Australia’s website: https://bit.ly/4bjdfDz If you have any question regarding the Toolkit, please contact: christina.rojas@mq.edu.au SATB2 Connect Mito Foundation Fabry Australia Neuromuscular WA #RareDisease #RArESTProject #TakingActionTogetherToolkit #Awareness #Education #Care #Support #Research #Data

𝐅𝐨𝐫 𝐇𝐞𝐚𝐥𝐭𝐡 𝐏𝐫𝐨𝐟𝐞𝐬𝐬𝐢𝐨𝐧𝐚𝐥𝐬: 𝐒𝐮𝐩𝐩𝐨𝐫𝐭𝐢𝐧𝐠 𝐭𝐡𝐞 𝐌𝐞𝐧𝐭𝐚𝐥 𝐇𝐞𝐚𝐥𝐭𝐡 𝐚𝐧𝐝 𝐖𝐞𝐥𝐥𝐛𝐞𝐢𝐧𝐠 𝐨𝐟 𝐏𝐞𝐨𝐩𝐥𝐞 𝐋𝐢𝐯𝐢𝐧𝐠 𝐰𝐢𝐭𝐡 𝐚 𝐑𝐚𝐫𝐞 𝐃𝐢𝐬𝐞𝐚𝐬𝐞 Three video case studies have been developed as part of the Australian Government-funded R̲are Disease A̲war̲eness E̲ducation, S̲upport and T̲raining (RArEST) Project to highlight the challenges to mental health and wellbeing that people living with a rare disease may experience at any time. 📒 In addition to three case study videos, this web page on the Rare Awareness Rare Education (RARE) Portal, includes information about reliable resources, information and support pathways for health professionals working with people living with a rare disease. 👉 Share this with your network to help us spread the word! To learn more, visit RVA's website: https://lnkd.in/dPVfWXKU

In May, Rare Voices Australia (RVA) was pleased to see that for the first time, the government is funding a dedicated Disability Representative Organisation for people with intellectual disability and chromosomal variations. The consortium, led by Down Syndrome Australia, includes several rare disease organisations and RVA Partners (rare disease groups/organisations). Congratulations to those involved in the consortium! 🎉 Additionally, RVA was pleased to receive an invitation from the Joint Standing Committee on the National Disability Insurance Scheme (NDIS) (the Committee) Inquiry into the NDIS participant experience in rural, regional and remote Australia to appear at a public hearing at Parliament House in Canberra on 28 June 2024 based on the Submission RVA lodged in February 2024. RVA is pleased to be receiving more invitations and opportunities to engage as the national peak body for Australians living with a rare disease, including those impacted by a disability. We will continue working to formalise these arrangements to ensure RVA remains actively involved in all relevant areas of disability policy reform. 💪 Read the full May 2024 disability advocacy update via RVA's website: https://lnkd.in/d8_yJPrH

Rare Voices Australia (RVA) is preparing for our annual Strategy Review session in July where, as an organisation, we discuss our focus areas and priorities for the future. 💡 RVA is asking all stakeholders in the rare disease sector for their #input ahead of our Strategy Review meeting. Your responses will be considered and assist in informing RVA’s priorities in 2024 and beyond. 𝐓𝐡𝐞 𝐬𝐮𝐫𝐯𝐞𝐲 𝐰𝐢𝐥𝐥 𝐜𝐥𝐨𝐬𝐞 𝐨𝐧 𝟑𝟎 𝐉𝐮𝐧𝐞. 📝 The survey will take approximately 10 minutes and can be completed via Survey Monkey: https://lnkd.in/gSB6ucbY