BATTEN DISEASE Support and Research Association AUSTRALIA
Batten Disease Support and Research Association Australia Submission
Terms of Reference of the Inquiry into the Thriving Kids initiative, referred by the Minister for Health and Ageing, the Hon Mark Butler MP, to the House Standing Committee on Health, Aged Care and Disability.
We welcome the opportunity to comment on the Terms of Reference and strongly support the Committee’s focus on evidence-based, equitable, and family-centred approaches to supporting children with developmental delay, autism, or other conditions requiring mild to moderate support.
A key strength of the Terms of Reference is the emphasis on evidence-based resources to assist parents in recognising early developmental concerns. For these resources to be effective, they must go beyond general developmental milestones and include red-flag indicators of rare, progressive conditions such as Batten disease and other forms of childhood dementia. These conditions often begin with subtle or mild delays but can escalate quickly. Diagnosis is frequently delayed for years and children are often misdiagnosed with more common conditions, such as autism or epilepsy, before the true cause is identified. Co-design with families and condition-specific organisations is essential to ensure resources are practical, accurate, and responsive to these realities.
The review of current and previous programs across maternal and child health, primary care, allied health, playgroups, early childhood education and schools is also welcome. However, the scope risks being too narrow if it focuses primarily on autism and developmental delay alone. Many children with Batten disease or other neurodegenerative conditions first present in these settings, but the early signs are easily overlooked. Misdiagnosis or dismissal of parental concerns can delay the pathway to appropriate assessment and treatment. Embedding prompts for regression, vision changes, seizures and other warning signs into existing child health checks and developmental screening tools would help reduce missed or delayed diagnoses.
Workforce training and support is another critical area. Too often, frontline practitioners have limited awareness of rare and progressive conditions, and families can spend years being referred between different specialists before an accurate diagnosis is reached. Establishing nationally recognised training in early identification that includes red-flag indicators for neurodegenerative conditions, coupled with practical referral pathways, would help ensure children are identified sooner. Building peer learning networks and embedding simple tools within GP software and school systems would further strengthen practice and reduce the likelihood of misdiagnosis.
Batten Disease Support and Research Association Australia Submission
Terms of Reference of the Inquiry into the Thriving Kids initiative, referred by the Minister for Health and Ageing, the Hon Mark Butler MP, to the House Standing Committee on Health, Aged Care and Disability.
The Terms of Reference also highlight the importance of learning from best practice internationally. This is an opportunity to examine how other jurisdictions have embedded rare-disease awareness into universal child health systems, and how those models might be adapted to the Australian context. Importantly, any imported practice should be evaluated for its impact on reducing diagnostic delay, improving referral accuracy, and supporting families of both common and rare conditions.
Finally, the commitment to seamless transitions across mainstream systems is vital. For families affected by conditions like Batten disease, gaps are often felt most acutely at points of transition: from maternal and child health to paediatrics, or from early childhood education into school. When diagnoses are delayed or uncertain, these transitions can become even more fragmented, leaving families to shoulder the burden of coordinating care. Establishing clear transition protocols, shared care plans accessible across systems, and navigator roles to actively manage handovers would provide families with much-needed continuity and support.
Across all of these areas, we encourage the Committee to embed three cross-cutting principles:
- Rare-disease readiness - explicitly accounting for progressive, less common conditions in all resources, workforce training and program evaluations, with an eye to reducing diagnostic delay and misdiagnosis.
- Data and accountability - shared national indicators that track timeliness of referral, diagnostic accuracy, and continuity of support.
- Lived experience - co-design with families and condition-specific organisations, ensuring their insights shape resources, pathways and workforce development.
Taken together, these steps would ensure the Terms of Reference deliver practical, lasting improvements for children with mild to moderate support needs, including those whose early signs may be subtle but whose conditions, like Batten disease, carry profound implications for families and the health system alike.
Thank you for the opportunity to comment on the Terms of Reference. We welcome further engagement with the House Standing Committee on Health, Aged Care and Disability, at later stages of the Inquiry. We are also prepared to appear before the Committee if requested.
Carlo Krikowa
General Manager
BDSRA Australia