Our submission to the Senate Inquiry into Epilepsy in Australia.

In May 2026, SCN2A Australia made a formal submission to the Senate Standing Committee on Community Affairs for its Inquiry into Epilepsy in Australia. We submitted two documents that belong together: a detailed evidence and recommendations paper, and a companion report carrying the collective voices of 134 families living with developmental and epileptic encephalopathies (DEEs).

Rare and complex epilepsies, including DEEs and genetic conditions such as SCN2A-related disorders, are defined by drug-resistant seizures, multiple co-occurring conditions, premature mortality, and lifelong care needs. They are also the part of the epilepsy population where the therapeutic pipeline is most active, and where early, accurate diagnosis decides whether treatment helps or causes harm.

Three independent processes within twelve months reached the same conclusion: current Australian systems are not meeting the needs of this population. The DEE Roundtable 2026, the IBE Rare Epilepsy Leaders Global Convening, and the published Global Epilepsy Needs Study each identified the same structural gaps. Families absorb the coordination work across health, disability, and education systems that do not talk to one another. Diagnostic delay causes clinical harm. Adult care pathways do not yet exist for the first generation of genetically diagnosed DEE patients now reaching adulthood.

What we asked the Committee to do

Our recommendations are organised into five focus areas drawn from the Committee's Terms of Reference. They are cumulative and interdependent. At their heart are five central needs:

• Formally recognise rare and complex epilepsies as a distinct priority population.
• Fund a national DEE registry covering diagnosis, co-occurring conditions, treatment response, and mortality.
• Ensure early, comprehensive, reimbursed genomic testing at first presentation.
• Fund whole-of-life, multi-sector models of care across health, disability, and education.
• Reform health technology assessment (HTA) frameworks to accommodate variant-level differences and precision therapies.

Why this matters

The clinical and economic cases point the same way. About 300 children are newly diagnosed with a DEE in Australia each year, an incidence of around 1 per 1,000. These children have exceptionally high needs: in a recent Australian sample, 61 per cent were hospitalised within a 12-month period, with an average admission of 23.2 days. Published cohort data report mortality of 13 to 15 per cent in SCN2A-related DEE, comparable to Dravet syndrome.

For SCN2A, molecular diagnosis is not optional; it determines whether treatment is safe. Gain-of-function variants typically cause early-onset, drug-resistant seizures, while loss-of-function variants more often produce autism and intellectual disability. Sodium channel blockers, a standard antiseizure medication class, can worsen seizures in people with loss-of-function variants. Yet families in our survey reported diagnostic delays of seven to fourteen years.

Our companion report, Collective Voices from the DEE Community, brings together 134 family responses, each consenting to share their lived experience with the Inquiry. The same problems show up in every postcode.

Read as a whole, the responses describe a system that asks families to be specialists, coordinators, and advocates at the same time, while also providing 24-hour care and absorbing the financial loss that comes with reduced work. When we asked families for the single most important change, a clear set of asks emerged:

1. Recognise DEE as a disability across NDIS, Centrelink, and education, not as a medical condition outside their remit.
2. Genetic diagnosis for all, with whole genome sequencing as standard rather than a barrier.
3. Specialist multidisciplinary clinics, accessible from regional Australia, with paediatric-to-adult transition.
4. Trials and treatments available in Australia, so families do not have to fundraise or fly overseas to access emerging therapies.
5. Funded respite and trained support workers competent in seizure first aid, so primary carers can sleep, work, and recover.
6. Mental health support for the whole family, including siblings, not only the person living with epilepsy.