Rare Voices Australia (RVA) congratulates Dr Jim McGill on his 2021 Australia Day Honour for significant service to metabolic medicine, to biochemical genetic pathology, and to medical education.
Dr McGill is a longtime champion of rare diseases. He is a world leading expert in a range of metabolic conditions and is a leader in providing person-centred care. Additionally, he has a long history of providing excellent clinical care and compassion to Australians living with a rare disease and their families. Dr McGill’s dedication, generosity, and commitment to providing Australians living with a rare disease with a better quality of life, expert medical care, high quality research and support, is exceptional.
Over the course of his career, Dr McGill has participated in countless rare disease-related committees, conferences and has held numerous leadership roles. He has changed the lives of a countless number of Australian children as a passionate advocate for newborn screening. His work continues to ensure that Australia is a world leader in newborn screening in terms of uptake, quality, number of conditions diagnosed and safety.
Now retired from clinical practice, Dr McGill will be missed by his patients around Australia. RVA thanks Dr McGill for all of his work in the rare disease sector and for his immeasurable contribution!
This article is part of Rare Voices Australia’s new Changemakers series. Click here to find out more and to share your story.
Learn how one family’s 14-year diagnostic odyssey led to the birth of SCN2A Australia.
Kris Pierce took her newborn son, Will, home from hospital amid a mountain of grief. Will was diagnosed with a progressive neurological disorder called Alpers Syndrome and his health was expected to deteriorate to the extent that he would pass away within 12-months.
Will in his happy place, on the farm.
“Will began to show small developmental gains, however, the neurology team felt it was unlikely there was a different outcome for Will. Years down the track, we were still being told, due to his symptoms and EEG recordings, he most likely has Alpers Syndrome,” says Kris.
“While trying to accept Will’s shortened life expectancy, we were also advised that due to the genetic nature of Alpers Syndrome that Will’s twin, Ella, could have the condition.”
Over the years, Will and his family spent a lot of time in hospital and Kris describes many moments when she didn’t think they would bring their son home.
The consequences of diagnostic limbo
“Not having a diagnosis was challenging as there were no answers, no treatments and most importantly, no tribe to connect with. We did not fit in anywhere and therefore, as a family, we went it alone for those first 14 years,” Kris says.
She admits that many medical appointments felt pointless. Sadly, Kris and her family are not alone. Diagnostic delay and misdiagnosis are common in rare diseases. An Australian survey found that 30% of Australian adults living with a rare disease are impacted by a diagnostic delay of more than five years, while almost half received at least one misdiagnosis.
Will’s case also involved an 18-month delay in the family obtaining Will’s genetic results.
“It took us changing to a new neurologist who recognised Will’s case from a recent paper written by a Melbourne neurologist on SCN2A. Within a week, the neurologist ensured we were informed of the outcome of the genetic testing. Will was diagnosed with SCN2A, one of the genes most commonly associated with early-onset epilepsy, autism and intellectual disability,” says Kris.
“While the result did not affect Will’s treatment, it had a huge impact on us. We were devastated to know there was a paper written about Will and we still were not aware of his condition. The path to get a diagnosis was certainly traumatic and has a lasting impact on both myself and Will’s dad, David.
“My advice to parents of children living with a rare condition is to continue asking questions. If you don’t get the answers you are looking for, get a second opinion. Follow your gut instincts as you know your child best. We often educate doctors about our child’s rare condition.”
Moving on with life, one day at a time
Once Will received a diagnosis, Kris’ family linked in with other SCN2A support organisations based overseas.
“It become clear that may issues are local. Across different countries, health systems are very different, not only in terms of how we access clinical care but also how we pay for them,” Kris says.
“Drug approval and drug reimbursement also requires local advocacy. It is devastating to hear drugs available in other parts of the world are not available in Australia for our rare children.”
Another impetus for forming a local regional organisation was that most of the science about SCN2A in 2019 was originating out of Melbourne.
Kris admits, “It is uncommon in the rare disease community to have your particular condition being looked into in your country, let alone your own hometown. In Melbourne, we have world leaders in SCN2A that we’re working with to progress not only in terms of the science but also to improve the health outcomes through advocacy.”
Will showcasing his love of farming.
Establishing SCN2A Australia
Utilising their background in health and education, Kris and David looked at what was already available globally and then built education content for families, as well as researchers and clinicians, that aimed to fill existing gaps. Since SCN2A Australia’s inception, the organisation has:
Collaborated with the International SCN2A Natural History Study, which is coordinated out of Melbourne. SCN2A has been instrumental in ensuring global engagement as well as working with those involved to ensure data access moving forward.
Co-founded Genetic Epilepsy Team Australia (GETA) to collaborate with other rare epilepsies to progress science, advocate and fill a gap in support services.
Continued mentoring and supporting the development of SCN2A organisations in other regions. SCN2A is developing an international collaboration that will co-ordinate global activities to accelerate awareness, research, and potential treatments for families impacted by SCN2A.
Depending on the longer-term impact of COVID-19, the first clinical trial for SCN2A is scheduled to commence in Australia in 2021. Kris says that the National Strategic Action Plan for Rare Diseases (the Action Plan) will provide a roadmap for how organisations can support families to gain access and participate in trials relevant to their condition. She says that the Action Plan will assist SCN2A will their advocacy.
Kris adds: “With the emergence of rapid genomic testing, families are getting a diagnosis, but the health system is not equipped to support our families.”
Rare lessons and takeaways: “together we are stronger!”
“Working in the rare disease space as a volunteer can be a thankless role. You need to celebrate the wins and acknowledge the impact you are having. Remember why you decided to dive in and keep reaching for the stars as our children deserve the best,” says Kris.
Kris highlights the importance of working with like-minded people who collaborate in an open and transparent fashion. She encourages people to find a mentor who has walked a similar path and to “be a sponge and learn all you can. Share your journey and empower those who come after you.”
Kris adds, “We cannot afford to work in silos, whether between countries or across diseases. Work with urgency, be collaborative and always check back in with your mission. Most importantly — have hope!”
Will has aspirations to become a highland cattle farmer.
Where there’s a Will, there’s a way: Will’s life now
At 18-years-old, Will is embarking on a path towards employment and becoming a highland cattle farmer.
“Will has always been outside the box and his passions are no different,” says Kris.
“We are not sure where his love of farming came from but we will support Will in becoming a farmer.”
Will remains functionally non-verbal and has cognitive challenges. He will require ongoing care as an adult but thankfully, Will’s health is stable.
Find out more about RVA Partner, SCN2A Australia, via their website.
The Western Australia Department of Health, Office of Population Health Genomics (OPHG) is currently reviewing the supports, services and systems available to West Australians living with rare, genetic and undiagnosed conditions and their families, and how the community navigates these systems. If you live in Western Australia (WA), the OPHG would like to know more about your and your family’s experiences. If your organisation/group has members who are based in WA, please feel free to pass on this invitation to them. See the flyer for the full details.
Stakeholder consultation focus groups
The OPHG is holding a number of stakeholder consultation focus groups for those living in WA with a rare, genetic or undiagnosed condition and/or their families. Your participation will help to shape the future services and system navigation for those living with genetic, rare and undiagnosed conditions across Western Australia.
The details are listed below.
Location: Face to face in Perth CBD (address to be provided) with online video conference options available. Dates: Participants may choose from a morning or evening session on 2nd, 3rd, 8th or 9th of February. Why: Community input plays a critical role in how future services are designed to create better outcomes. RSVP: To learn more or register your interest please email [email protected] or call 08 9222 2239.
Participants will be renumerated by the OPHG for their time.
Organisation : Rare Voices Australia Location : Australia (The successful applicant may be based in or near any Australian capital city or major regional centre.) Work type : Part-time Profession : Policy & Research Sector : Other Salary type : Annual Package Salary : $80k per annum full-time equivalent pro rata, plus super Application closing date : 31 Jan, 2021
About the role
The Research and Evaluation Officer will play a key role in facilitating the collaborative implementation of the National Strategic Action Plan for Rare Diseases (the Action Plan), including leading the development of an online digital repository. This role will source and conduct high quality evidence-based research and program evaluation to support RVA’s advocacy, policy development and education activities. This role will also cultivate research partnerships with external organisations. This position would be well suited to an individual who is skilled in strategic research and evaluation, has strong communication skills and who enjoys working collaboratively as part of a team.
About the organisation
Organisation Name : Rare Voices Australia
Rare Voices Australia (RVA) is Australia’s national non profit peak body, representing people who live with a rare disease. RVA is dedicated to working with all stakeholders to drive the best outcomes for Australians living with a rare disease.
We provide a strong unified voice to advocate for rare disease policy reform, as this is essential to improving the lives of the estimated two million Australians living with a rare disease.
We progress the collaborative implementation of the Action Plan. RVA led the collaborative development of the Action Plan, which was launched in February 2020 by the Australian Government with strong bipartisan support. Developed ‘by the rare disease sector, for the rare disease sector,’ the Action Plan is the first nationally coordinated effort to address rare diseases in Australia.
We provide leadership and advocacy, raise awareness of issues and influence policy by engaging with all stakeholders in the rare disease sector and facilitating collaboration.
Our collaborative approach to working with our RVA Partners and stakeholders ensures our actions are well considered and well targeted, sustainable, and geared towards achieving a high collective impact.
Our national team is small, collaborative and strategic. We are innovative thinkers who are nimble and proactive. We are comfortable working remotely as our team members are located across Australia. We all pitch in when needed, and act with the highest level of integrity and respect for our RVA Partners and stakeholders. We thrive on achieving progress on the big issues for people living with a rare disease.
Greater Brisbane will go into lockdown for three days from 6pm Friday 8 January, while contact tracers work to ensure the UK strain of COVID-19 is not circulating in the community. Click here for the latest updates.
Rare Voices Australia (RVA) welcomes the opportunity to provide input from a rare disease perspective into changes being made to the National Disability Insurance Scheme (NDIS). RVA will be a lodging a submission into:
RVA has heard many stories of the difficulties those impacted by rare disease have had in terms of eligibility, access and timely response.
In developing our submission for the Parliamentary Inquiry, RVA is seeking input from our RVA Partner organisations. We would like to hear your views and recommendations for the NDIS, as well as your specific experiences. RVA is hosting two 90-minute webinars on Wednesday 3 February:
Webinar 1: 2pm to 3:30pm (AEDT) Webinar 2: 8pm to 9:30pm (AEDT)
The content for each webinar will be the same. Choose the session that bests suits you.
The sessions are designed to be collaborative and interactive discussions that can inform the development of RVA’s submission to the Parliamentary Inquiry, as well as your own organisation’s potential submission. We will discuss:
Terms of reference for the Parliamentary Inquiry and guidelines for the NDIA’s access and eligibility policy with independent assessments consultation.
Barriers that rare disease families experience in accessing NDIS funding.
Ideas for the fairest and most equitable ways to assess eligibility and access requirements from a rare disease perspective.
The National Strategic Action Plan for Rare Diseases and how its content relates to access to care and services, including the need for a co-ordinated and integrated approach.
Data sources such as The McKell Institute report, Disability and Rare Disease: Towards Person Centred for Australians with Rare Diseases, the Tune Review of the NDIS Act 2013 and international models.
The NDIA’s access and eligibility policy consultation closes on 23 February and details can be found here.
The closing date for the Parliamentary Inquiry is 31 March and the terms of reference can be found here.
To register for this webinar please email RVA’s Stakeholder Engagement and Education Officer, Louise Healy, noting which session you’d like to attend: [email protected]
If your rare disease organisation/group is not an RVA Partner and you would like to attend the webinar, you can apply to become an RVA Partner. Click here for more information.
The National Disability Insurance Agency (NDIA) would like to hear from you regarding the changes they are making to the NDIS. The NDIA has released three public consultation papers and one report:
1. Consultation paper: access and eligibility policy for independent assessments 2. Consultation paper: planning policy for personalised budgets and plan flexibility 3. Consultation paper: supporting young children and their families early, to reach their full potential 4. The Early Childhood Early Intervention Reset Project consultation report
Submissions for each public consultation paper are open until 10am ADST Tuesday 23 February 2021. Click here to access the NDIA’s consultation papers and report. RVA has put together this education resource to assist people with the NDIA public consultations.
A COVID-19 outbreak on Sydney’s northern beaches has led to fresh warnings around the country and new restrictions being introduced in New South Wales. Click here for more information.
Rare Voices Australia (RVA) attended the Human Genetics Society of Australasia’s (HGSA) Virtual Conference on 24 and 25 November 2020. RVA was pleased to present our poster, The National Strategic Action Plan for Rare Diseases: A Collaborative Multi-stakeholder Approach to Effective Rare Disease Policy Reform. Click here to view RVA’s poster.
