Fiona delivered this speech on 11 February 2025 at Parliament House at Rare Voices Australia’s annual Rare Disease Day Parliamentary Event.
I am the Disability Advocacy Manager for Rare Voices Australia (RVA), a role that was born from the need to tell the important and much-overlooked story of the intersection between rare disease and disabilities.
Nearly all of the estimated two million Australians living with a rare disease experience long-term impacts daily – impacts that meet the Australian Government’s definition of a disability. Despite this, the disability impacts of living with a rare disease often aren’t recognised by policymakers.
I came to this role having been involved in rare disease support and advocacy for more than 15 years through various board roles, and I have been the President of Angelman Syndrome Association Australia for over four years. On Saturday 15 February, we mark International Angelman Day, so if you see a landmark illuminated blue you will know why.
My current roles stem from my lived experience. Mine is a story of multiple syndromes and 21 years of living with rare disease and disability impacts. I won’t talk about irritable bowel syndrome, middle child syndrome, or my feelings of imposter syndrome. Instead, I will share a little about my youngest child’s life, living with Simpson-Golabi-Behmel syndrome and Angelman syndrome.
Our journey includes the diagnostic odyssey that is so familiar to people with an ultra-rare condition, the challenges of lack of resources, and feelings of loneliness and despair. At the time of his diagnosis of Simpson-Golabi-Behmel syndrome at the age of 18 months, Connor was one of only 50 people in the world with this rare form of tumor causing overgrowth syndrome.
The RARE Helpline would have been a lifeline to me 20 years ago as it has been for so many people living with rare disease and their caregivers since its inception.
Carer impacts
In the blur that was the 12 months following Connor’s initial diagnosis, we spent hours each week at appointments, including medical and allied health sessions, and participating in sleep studies and routine cancer surveillance that involved blood tests and ultrasounds every 12 weeks. These appointments continued until he turned 10 years old.
I once counted 60 appointments between New Year and Easter. A carer’s leave allocation of up to 10 days per year is quickly decimated by rare disease care. I was unable to return to my profession as an Air Traffic Controller due to the severe impacts of Connor’s rare disease on his sleep, feeding, and attachment.
This had immediate ramifications on my capacity to earn money, which has lifelong impacts on the size of my superannuation and the ability to support him and his needs well into my retirement.
The National Carer Strategy needs to reflect the needs of rare disease carers, including siblings, and grandparents in addition to parent caregivers. I have friends who have several children who live with Angelman syndrome, highlighting that rare carers can have multiple caring roles. In other conditions the carer may also have a rare disease, representing people who have a dual caring role.
Health versus disability impacts
The disability impacts of my son’s conditions were obvious early and I can honestly say that I never contemplated that these were separate from, and different from, the health impacts of his rare disease. Life is not divided into two buckets. For us, they are one and the same.
We just focused on what it was to live with not one, but two rare diseases when my son subsequently was diagnosed with Angelman syndrome at the age of 4.5 years. Yes, you can have more than one rare disease!
Our life has been defined by seizures, sleep disorders, gastrointestinal challenges leading to complex bowel care, incontinence, communication disabilities, motor coordination challenges, and intellectual disability.
What is that moment when the progressive impacts of scoliosis become a disability issue? Who determines this and with what evidence? Is his sleep disorder considered part of his disability impacts or a health issue, or is it the sleep deprivation impacts on his fine motor tremor or his increased falls that is considered the disability?
The arbitrary line that is so often drawn between health and disability is a vexing issue for people with a rare disease and their caregivers. It seems grossly unfair to expect exhausted, overstretched parents and caregivers to be up to speed on the ever-shifting political landscape, and the policies and expectations of a health system that is administered at a state level, and a disability framework that is overseen by federal departments, and the National Disability Insurance Agency (NDIA). We must do better to help families navigate this complexity in their pursuit for the best quality of care and support for their loved one(s). Their ask is simple. It’s the government systems that are complex.
Language and progress
Some of that complexity stems from language. Three years ago, RVA began discussions with the NDIA to raise the challenges of our rare disease cohort, yet we were met with confusion. After all, rare diseases are a health issue, aren’t they? It’s in the name.
So, we expanded the conversation to include rare disorders, rare syndromes, rare conditions, and undiagnosed conditions by shifting our language to counter the inherent health bias, and by being diagnosis or condition agnostic, a key tenet of RVA.
We were eventually able to highlight the significant disability support needs of the rare disease community. And I am pleased to report that we have made some ground in some directions. As always there is much more to do.
Moving the dial
RVA is now a member of the National Disability Insurance Scheme (NDIS) Neurodegenerative, Palliative Care and Rare Disease Advisory Group – a senior policy reform advisory group formed in the middle of 2024 that has already identified that NDIS policy needs to be tailored and bespoke for the complexity of these cohorts. RVA appreciates the tireless efforts of some of our RVA Partner groups/organisations (rare disease representatives) who are also represented in this group.
In August 2024, RVA was added to the NDIS Co-Design Working Group, focusing on Workforce Capability and Culture, which directly shapes participant experience. We are now in the early stages of the development of the NDIS Rare Disease Disability Representative Dashboard report, built around four general categories of rare disease disabilities:
- Neurological/neurodevelopmental
- Progressive/degenerative
- Episodic/fluctuating
- Late-onset/acquired conditions
The dashboard highlights the importance of one of the key areas of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) – accurate data capture. While the next era in the NDIS will be improved systems and a focus on functional impairment rather than diagnosis, accurate data recording, monitoring, and reporting is essential to ensure appropriate investment and the development of good policy. Simple, elegant data solutions implemented now will give the government rich data to drive good decisions over the long term.
Universal design principles invite us to consider designing our systems and processes for the most complex, intensive rare disease disability cohort, knowing then that the needs of the broader community will be met. Let us pressure-test your policy – we will readily let you know if it is fit for purpose for our rare disease community. And if we need to pioneer new ways of thinking, new ways of doing, and new ways of working to best support this cohort, we will.
Over the past 12 months, as the national peak body for Australians living with a rare disease and alongside the sector more broadly, RVA has contributed to 10 work programs across the disability and carer reform agenda. We enjoyed collaborating with our RVA Partner groups/organisations through our Rare Disease Disability Roundtables and consulting on everything from NDIS supports to the National Carer Strategy, the Pricing Reform Agenda, and the needs of people with a rare disease living in regional, rural, and remote areas.
Toward the end of 2024, we were thrilled that our persistence and capacity to build and maintain relationships has yielded some results. RVA is delighted with the Australian Government’s recognition of the need to respond to rare disease disability impacts by awarding RVA a Peer Support and Capacity Building grant. We see this as a turning point and a reflection of the NDIA’s and government’s growing understanding of rare disease disability impacts.
RVA appreciates the willingness of all sides of government and other key decision-makers to work with us and the sector as we implement the Action Plan. We believe we need to harness the momentum we have created to effect meaningful, sustainable change to improve the quality of life for people living with rare disease and disabilities, their families, and caregivers.
If occasionally our advocacy feels personal, it’s because it is personal because all too often, the lives of people living with rare disease and their caregivers depend on it.
Image credit
Nerrisa Bellert, a fellow Angelman mum. A photo of Fiona and her son Connor was shortlisted for the 2025 Black Pearl Photo Award.
