Submission to House Standing Committee on Health, Aged Care and Disability

Thriving Kids Initiative

1 October 2025

Thank you for the opportunity to provide input into this consultation on behalf of Australians impacted by mitochondrial disease (mito). This submission contains insights from Mito Foundation’s work with the mito community, through our qualitative research program and though consultation activities we conduct with the mito community.

Children with mito often face unique challenges: the disease is progressive, multi-system, and complex, with uncertainty around progression and prognosis. These characteristics mean the interface between Thriving Kids and the National Disability Insurance Scheme (NDIS) is especially critical for our community.

Appendix 1 contains more information about children living with mito and their experiences of disability.

Children with mito are likely to require the complex supports provided by the NDIS

We recognise and support the intent of Thriving Kids to provide support for children with mild to moderate developmental delay and autism outside of the NDIS. However, because of the unpredictable and often rapid progression experienced by children with mito, we do not support this being a common pathway for children with mito.

For many children, the first signs of mito are mild or moderate delay. However, their disabilities can quickly become more severe and affect multiple domains. For example, up to 70% of children with mito experience childhood dementia, where confusion and memory loss progress to loss of speech, mobility and vital body functions. This progression requires disability support beyond the likely scope of Thriving Kids. Recognising this complexity, the NDIS has established Specialised Planners to provide dedicated support for families impacted by childhood dementia. This precedent reflects the complex needs of children with progressive conditions like mito.

We believe that as soon as a child has a diagnosis of mito they should be supported through the NDIS to ensure they can access the complex supports they are likely to need with minimal delay. This includes children with suspected mito and/or children awaiting a precise genomic diagnosis.

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Transitions between Thriving Kids and the NDIS must be seamless

For families, continuity of support is critical. We believe that children must never experience breaks in therapy or disruption to trusted therapeutic relationships if they need to move between Thriving Kids and the NDIS.

• When needs increase: A child with mito whose disease progresses should be able to transition smoothly into the NDIS, with continuity of service providers wherever possible.
• When needs decrease: As we understand the proposal, in some cases (e.g., where mito is initially suspected but later ruled out), children may step down from the NDIS into Thriving Kids. Continuity of supports must also be maintained here.

Disruptions to therapy supports can lead to a loss of hard-earned skills and impact on the quality of life of the child and their families. Supports are often provided by individuals who have built trust and expertise working as a member of the child’s team. Being able to keep these individuals in the team despite funding being moved between systems is important to families impacted by mito. In many cases children with mito live short lives, and time is precious for them and their families.

To achieve this:

• Thriving Kids providers should have the flexibility (such as through dual registration) to deliver services under both Thriving Kids and the NDIS.
• Funding and policy should ensure no gaps in services during transition.
• Families should have a single point of contact to guide transitions and reduce administrative burden.

For further information

Please contact:

Clare Stuart

Advocacy and Engagement Manager, Mito Foundation

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Appendix 1: About our feedback

About mito

Mitochondrial disease (mito) is a debilitating genetic disorder that starves the body’s cells of energy. Due to its genetic basis, mito can affect multiple family members. There is currently no cure for mito, and very few effective treatments exist. It is estimated that approximately 4,500 Australians live with a diagnosis of mito while one in 200 (more than 120,000) carry a gene change that puts them at risk of developing mito in their lifetime.[1]

Mitochondrial disease can affect both children and adults, often causing multiple organ dysfunction or failure and, in severe cases, death. For the most serious forms presenting in childhood, the mortality rate can be as high as 50% per year.[2-4]

Paediatric mito is highly complex and can affect any tissue or organ system, often in combination. This means children may experience multiple disabilities at the same time, such as dementia and cognitive decline, difficulties with movement, communication, vision, hearing, and other complex health needs.

For children with mito, there is no test to predict how their condition will progress. Key factors include whether the child has shown delay in developing skills, showing signs of regression, experiencing multiple organ problems, or had serious episodes requiring intensive care. These patterns are the only indication of what may come.[3]

Olivia’s story

Olivia was born a healthy and joyful baby, reaching early milestones like tummy time and rolling over well. But when she was four months old, her parents noticed unusual eye movements (nystagmus). Tests revealed changes in her brain and spinal fluid. Olivia was diagnosed with a rare and severe form of mito which typically affects infants and children and leads to progressive deterioration of the central nervous system resulting in death. However, her medical team could not predict when this progression will occur and how quickly.

Her parents shared:

“We had to get genetic testing to confirm. We were told [child] would probably become severely disabled.”

By five months, Olivia also developed dystonia (painful, involuntary muscle contractions) and seizures. Over the following months, her disease progressed rapidly. She lost the few skills she had gained, such as holding her head up, and became increasingly fatigued, struggling to eat and drink. Olivia then required an NG tube to be able to receive nutrition and medications safely.

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With support through the NDIS, Olivia was able to see a physiotherapist and regain some of her strength again. She also needed specialised equipment, such as a stroller and car seat, to support her safe access to the community.

As her disease progressed further, she was also received support through palliative care. Her seizures worsened, requiring medication up to seven times a day, and she was admitted to hospital where multiple specialists cared for her until she sadly passed away before her second birthday

Olivia’s parents shared:

“The doctors told us to enjoy Olivia’s life and make memories, as they couldn’t tell us how long her life will be… Anticipatory grief is heart wrenching, it’s knowing the greatest gift you have ever received is going to be taken away. And there’s nothing you can do to stop it.”

Olivia’s story highlights the complexity of paediatric mito and the urgent need for coordinated and flexible supports to meet the needs of children with progressive conditions.

Figure 1. This figure illustrates the wide range of symptoms and signs that can occur across different organ systems, highlighting why care for these children must be flexible and coordinated.(Reference 3)

About Mito Foundation

The Mito Foundation provides information and support to hundreds of Australians living with mito, including many people who have disabilities and receive supports through the NDIS

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linked to their mito-related vision impairment, hearing impairment, mitochondrial myopathy and other physical disabilities.

Mito Foundation is not a provider under the scheme. Our support services use donated funds to help people with mito navigate health, disability, education and other services to improve their lives.

In addition to providing support and information to Australians living with mito, Mito Foundation funds essential research into the prevention, diagnosis, treatment and cures of mito, and increases awareness and education about this devastating disease. Mito Foundation was founded in 2009 by families personally impacted by mito along with professionals with a special interest in mito.

Our work is informed by our Mito Community Advisory Panel, and regular engagement with the wider mito community through support services and through research projects. Mito Foundation receives no government funding to participate in consultations.

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References

1. Preventable burden of mito: Reducing the cost and providing benefits to people with mitochondrial disease and their communities – April 2024, The Centre for International Economics. CC BY-NC. Available from https://www.mito.org.au/preventable-impact-of-mito/
2. Noorda G, Hermans-Peters M, Smeitink J, van Achterberg T, Kemps H, Goverde W, Schoonhoven L. Mitochondrial disease: needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase. J Inherit Metab Dis. 2007 Jun;30(3):333-40. doi: 10.1007/s10545-007-0426-0. Epub 2007 May 11. PMID: 17508266; PMCID: PMC2794030.
3. Rahman S. Mitochondrial disease in children. Journal of internal medicine. 2020 Jun;287(6):609-33. doi: 10.1111/joim.13054
4. Keshavan N, Rahman S. Natural history of mitochondrial disorders: a systematic review. Essays Biochem. 2018 Jul 20;62(3):423-442. doi: 10.1042/EBC20170108. PMID: 29980629.

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