Department of Health, Disability and Ageing
Consultation on NDIS Access Changes
October 2026
Rare Voices Australia Submission
Contents
Contact:
Fiona Lawton
Disability Advocacy Manager
Rare Voices Australia
Introduction
Rare Voices Australia (RVA) welcomes the opportunity to contribute to the Department of Health, Disability and Ageing’s (DHDA) consultation on NDIS access changes.
RVA is the national peak body for Australians living with a rare disease and advocates for the estimated two million Australians affected by approximately +7,000 known rare diseases. We work collaboratively across the health, disability, research and community sectors to drive the best outcomes for Australians living with a rare disease.
RVA led the development of the Australian Government’s National Strategic Action Plan for Rare Diseases (Action Plan)1. RVA is now leading the Action Plan’s collaborative implementation on behalf of the rare disease sector. The Action Plan recognises the need for person-centred approaches, equity of access, and sustainable systems. These principles directly support the recommendations in this submission.
Recognising Rare Disease Disability
Most people with a rare disease meet the Australian Government’s definition of disability.2,3 This includes an estimated 100,000 National Disability Insurance Scheme (NDIS) participants with severe and profound rare disease disability impacts.
People living with rare disease disability often experience lifelong and highly individualised support needs arising from the interaction of disability, health conditions, communication needs, intellectual disability, behavioural support needs and progressive, degenerative or fluctuating conditions. The rare disease community includes people living with neurodevelopmental syndromes, mitochondrial disorders, progressive neurological conditions, metabolic disorders and undiagnosed rare diseases.
Rare disease disability provides a valuable test case for future NDIS access reforms. This is because rare diseases often present with complexity, diagnostic uncertainty, variable and evolving disability, limited evidence due to rarity, and significant reliance on informal supports and caregiving. Standardised assessment approaches developed for more common disability presentations do not always capture the full impact of rare disease disability.
RVA recommends recognising people living with rare disease disability as a priority cohort within future NDIS access reforms. This would support the development and testing of assessment approaches that can respond to complexity, progression, fluctuation, diagnostic uncertainty and the cumulative impact of disability across multiple domains of life.
For people living with rare disease disability, equitable access requires a framework that considers the individual’s functional impact, support needs and disability trajectory, while drawing on multiple sources of evidence to support consistent and informed decision-making.
Recommendations
RVA recommends the following NDIS access reforms:
Recommendation 1
Recognise people living with rare disease disability as a priority cohort for the development, testing and implementation of future NDIS access reforms.
Recommendation 2
Adopt an assessment framework informed by both the International Classification of Function (ICF) and ORPHAcodes as the primary framework for NDIS access decisions involving rare disease disability. This will capture cumulative disability burden, variability, progression, caregiver support requirements, and participation impacts across all life domains.
Recommendation 3
Recognise lived experience evidence, specialist clinical expertise, natural history studies, standards of care, consensus guidance and validated rare disease evidence sources as acceptable evidence for establishing disability impacts and permanence.
Recommendation 4
Use standardised assessment tools as supplementary sources of information within a broader multidisciplinary assessment framework and ensure they are never used as the sole determinant of access eligibility for people living with rare disease disability.
Recommendation 5
Determine permanence with reference to the underlying condition, and where known, its established natural history, expected trajectory and lifelong functional impact.
Recommendation 6
Define ‘appropriate treatment’ as treatment that offers a reasonable prospect of materially improving the underlying impairment, and do not require applicants to exhaust multiple symptom-management interventions before permanence can be established.
RVA’s Submission
Standardised Assessment Considerations for Rare Disease Disability
RVA supports using standardised assessments as one source of evidence within a broader ICF-informed assessment framework. Standardised tools can provide useful information about current functioning but should not be relied upon as stand-alone determinants of NDIS access for people living with rare disease disability.
Most standardised functional assessment tools were developed and validated in populations with more common disability presentations, stable presentation and known progression. As a result, they may not fully capture the complexity, variability and cumulative impact of rare disease disability, particularly where disability is progressive, fluctuating, medically complex or affects multiple body systems.
Standard and generic functional capacity assessments can provide valuable information regarding current performance, but often have limitations in assessing future trajectory, progressive decline, support intensity, medical complexity and rare disease-specific disability patterns.
RVA recommends that standardised assessments be used as supplementary evidence within a broader multidisciplinary assessment framework and not as stand-alone determinants of eligibility.
Why an ICF-Based Framework Is Preferable to Reliance on Standardised Assessments Alone
RVA strongly supports the use of the International Classification of Functioning, Disability and Health (ICF) as the foundational framework for NDIS access assessments. Developed by the World Health Organization, the ICF provides a comprehensive and internationally recognised framework for understanding disability by considering body functions and structures, activities and participation, environmental factors, personal circumstances, and the interaction between health conditions and functional outcomes.
This approach is particularly valuable for rare disease disability because it focuses on the real-world impact of disability rather than relying solely on diagnosis, impairment measures or standardised assessment scores. It enables assessment of disability across multiple functional domains, accommodates progressive and fluctuating conditions, and recognises the influence of environmental and support factors on participation and daily life.
Importantly, an ICF-based framework can be applied consistently across common conditions, rare diseases, and undiagnosed conditions, ensuring that access decisions are based on functional impact and support needs rather than the availability of condition-specific evidence or assessment tools.
Improving Rare Disease Visibility Through Orphanet and ORPHAcodes
RVA supports the adoption of ORPHAcodes as a recognised component of the NDIS access framework. Rare diseases are not well represented in traditional coding and classification systems, creating challenges for consistent identification, evidence gathering, service planning and data collection. ORPHAcodes are internationally recognised rare disease identifiers developed through Orphanet and provide significantly greater diagnostic precision than broader diagnostic categories.
For the National Disability Insurance Agency (NDIA), ORPHAcodes can support:
- accurate identification of specific rare diseases
- access to validated disease information, natural history data and standards of care
- greater consistency in eligibility and assessment processes
- improved understanding of expected disease progression and disability impacts
- stronger data collection, reporting and policy development
- more meaningful analysis of participant outcomes over time.
Importantly, rare diseases that appear similar, or are grouped under the same broad diagnosis, can have very different impacts on a person’s daily life and support needs. ORPHAcodes help identify the specific condition, supporting more accurate and consistent assessment and decision-making.
Used alongside an ICF-based assessment framework, ORPHAcodes provide a practical mechanism for linking diagnosis-specific information with an individual’s functional capacity, participation and support needs. This would help the NDIA maintain a focus on disability impact rather than diagnosis alone.
Detailed Responses to Consultation Questions
Question 1 - Do the draft guiding principles provide the right foundation for a future NDIS access process?
RVA broadly supports the proposed guiding principles as an appropriate foundation for future NDIS access reform, particularly the principles of human rights, lived experience, evidence-based decision-making, equity, transparency and continuous improvement.
These principles align with the objective of establishing a more consistent, fair and nationally coherent access process.
However, for people living with rare disease disability, equitable access requires consideration of:
- medical complexity
- multi-domain impairment
- developmental divergence
- progressive or degenerative trajectories
- fluctuating function and
- substantial reliance on environmental and caregiver supports.
To achieve equitable outcomes, the guiding principles should explicitly recognise lived experience, complexity, clinical expertise, disability trajectory and the cumulative impact of impairment across multiple domains of life.
Question 2 - Should any principles be added, removed or changed?
RVA recommends the addition of four principles:
- Lived Experience Evidence
RVA strongly supports the inclusion of lived experience evidence as a guiding principle. For people living with rare disease disability, lived experience evidence provides important contextual information regarding functional impact, support needs, disability fluctuation and caregiver reliance that may not be fully captured through clinical documentation or standardised assessments alone.
- Recognition of Complexity
The access process should recognise that disability often arises from the cumulative interaction of impairments rather than a single impairment. For many people living with rare disease disability, the cumulative interaction of physical, cognitive, behavioural, communication and health-related impairments have a greater impact on everyday functioning than any single impairment in isolation.
- Recognition of Disability Trajectory
Access decisions should consider known disease trajectories, developmental divergence, likely progression, and fluctuating function, where this can be supported by clinical expertise, natural history evidence, and standards of care. People should not be required to experience avoidable deterioration before disability is recognised. This is important where early intervention can deliver demonstrable individual gains in functional capacity and skill maintenance and enhance quality of life.
- Recognition of Specialised Evidence
People living with rare disease disability should not be disadvantaged because extensive peer-reviewed evidence is unavailable. Limited evidence often reflects the rarity of a condition, rather than uncertainty regarding disability impacts, permanence or support needs.
For many rare diseases, specialist clinical expertise, natural history studies, disease registries, standards of care, expert consensus statements and condition-specific guidance provide the most reliable evidence base and should be recognised accordingly.
Question 3 - What do we need to consider when designing an access decision-making process that is fair, consistent, transparent, disability-informed and evidence-based?
RVA supports a nationally consistent access framework that assesses disability through its impact on functioning, participation and support needs, while recognising the value of diagnosis-specific information in understanding current and future disability impacts.
RVA also emphasises the importance of lived experience evidence in understanding the day-to-day impact of disability. For many rare diseases, the full impact of disability may not be apparent during a single assessment or clinical appointment. Individuals and caregivers are often best placed to describe fluctuations in functioning, supervision requirements, support intensity, fatigue, behavioural impacts, participation restrictions and the cumulative burden of managing a complex condition over time.
Lived experience evidence should be considered alongside clinical and functional evidence to support a more complete understanding of disability and support needs.
A fair and evidence-based access framework should:
- assess disability across multiple domains of functioning
- consider participation restrictions alongside functional skills
- recognise environmental dependence and support intensity
- incorporate lived experience and caregiver evidence
- accommodate progressive, fluctuating and undiagnosed conditions
- combine standardised assessments with clinical judgement and specialist evidence.
For people living with rare disease disability, fair and evidence-based decision-making requires a proportionate evidence framework that combines ICF-informed functional assessment with specialist clinical expertise, standards of care, natural history evidence, ORPHAcode-linked information and lived experience evidence.
This approach enables decision-makers to consider disability in context and reduces reliance on any single assessment tool, score or source of evidence. Importantly, it allows functional impact, participation restrictions, support intensity and likely future needs to be considered alongside current functioning.
Question 4 - How could the access process reduce administrative burden and support a proportionate approach?
RVA strongly supports a proportionate access process and includes the following differentiated evidence pathways as examples:
- Streamlined Access Pathway
Individuals with clearly established permanent and substantial disability should be able to access the NDIS using existing specialist evidence, supported by clinical documentation and available functional information. This pathway should recognise established genetic diagnoses, recognised standards of care and natural history evidence where they clearly demonstrate permanent and substantial functional impairment.
- Comprehensive Assessment Pathway
Where disability impact is less clear or more variable, a broader assessment process may be appropriate. People with undiagnosed rare disease or emerging disability should be able to demonstrate eligibility through functional evidence, specialist opinion, developmental trajectory and documented support needs. Lack of a confirmed diagnosis should not be a barrier to access.
Question 5 - What should be considered to ensure the process works well for all disability cohorts?
People living with rare disease disability are represented across all disability cohorts. Assessment processes must therefore be sufficiently flexible to accommodate diverse disability presentations while remaining nationally consistent.
For people living with rare disease disability, key considerations include:
- Neurodevelopmental and Cognitive Disability
Assessment processes should incorporate supported communication, caregiver contributions and consideration of supervision requirements, behavioural supports, safety risks and participation restrictions.
- Progressive and Degenerative Conditions
Assessment processes should consider known disease trajectories, standards of care and foreseeable functional decline. Individuals should not be required to deteriorate further before eligibility can be established.
- Episodic and Fluctuating Conditions
Assessment should consider disability across time rather than performance on a single day. Longitudinal history, including frequency, severity and cumulative impact of episodes should be taken into account.
- Children with Developmental Delay and Emerging Disability
For infants and young children, assessment should recognise diagnosis where known, developmental trajectory and widening developmental divergence rather than relying solely on age-based functional comparisons.
- Undiagnosed Rare Disease
Individuals experiencing substantial and enduring functional impairment should not be excluded from access while undertaking a prolonged diagnostic journey.
- Reasonable Adjustments
Across all cohorts, functioning should be assessed according to what a person can do, and also according to the supports required to achieve and sustain that functioning. Access processes must enable supported communication, alternative and augmentative communication systems, proxy reporting and supported decision-making arrangements, where required.
Question 6 - What factors and evidence should be considered when determining whether an impairment is permanent or likely permanent?
RVA supports an interpretation of permanence that reflects both the clinical reality and the experience of people living with rare disease disability. For many rare diseases, particularly genetic, congenital, neurodevelopmental, degenerative and progressive disorders, the underlying condition is permanent from diagnosis. While treatments may improve symptoms, reduce complications, or slow disease progression, they do not change the permanence of the condition or remove the need for ongoing disability supports.
RVA recommends that permanence assessments distinguish between:
- interventions that can reverse or substantially remediate the underlying impairment
- treatments that manage symptoms, complications or secondary impairments associated with a permanent condition.
The availability of symptom-management treatments should not be used as evidence that an impairment is not permanent where the underlying rare disease remains lifelong and irreversible.
RVA does not support an approach that requires people to exhaust every available therapy, medication, surgery or intervention before permanence can be established. Many rare disease treatments improve quality of life or slow disease progression without materially changing long-term functional outcomes. People living with rare disease disability should not be required to demonstrate the failure of multiple symptom-management treatments to access disability supports. Access decisions should instead focus on the enduring nature of
the underlying condition, its expected trajectory, and the resulting impact on functional capacity, participation and long-term support needs.
Conclusion
RVA supports a future NDIS access framework that is function-based, evidence-informed, nationally consistent and grounded in the lived experience of people with rare disease disability.
Rare disease disability provides a valuable test case for designing future NDIS access arrangements. RVA encourages the DHDA and NDIA to continue working closely with the rare disease sector as these reforms are developed and implemented. The rare disease community can provide unique insights into how access arrangements operate for people whose disability may not fit standard assessment pathways, whose conditions may be poorly represented in conventional evidence frameworks, or whose support needs evolve over time.
References
- Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf [Accessed October 2026]
- Australian Government. Australian Public Service Commission. Definition of disability. September 2019. Available from: https://www.apsc.gov.au/working-aps/diversity-and-inclusion/disability/definition-disability [Accessed October 2026]
- Australian Bureau of Statistics. Disability, ageing and carers, Australia: Summary of findings. July 2024. Available from: https://www.abs.gov.au/statistics/health/disability/disability-ageing-and-carers-australia-summary-findings/latest-release#disability [Accessed October 2026]