Andrew was born with three rare brain malformations – Periventricular Nodular Heterotopia (PVNH), Polymicrogyria and Cerebella Hypoplasia—as well as two other congenital malformations. His cerebellum is a quarter of the average size. These rare malformations have not stopped him achieving many things even though he has an intellectual and physical disability. Andrew’s determination to overcome the obstacles in his life inspires people, yet it is he who wants to help others by raising awareness about rare diseases. Among others, Andrew played a key role in the formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia in 2021. Additionally, since 2020, Andrew has played a pivotal role in organising illuminations for Rare Disease Day in Australia.

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In 2023, Natasha was diagnosed​ with Immune Mediated Necrotizing Myopathy (IMNM). IMNM is a rare autoimmune muscle disease where the body’s immune system attacks muscle tissue, causing muscle death (necrosis). IMNM​ is so rare that it is not well understood by medical professionals. As a member of Rare Voices Australia Partner, Myositis Association Australia (MAA), Natasha has learned she is one of 14 other members with IMNM. Since being diagnosed, she has taken on voluntary opportunities and participated as a consumer representative in many health-related projects. Natasha volunteers with MAA and is a consumer representative for the Aboriginal and Torres Strait Islander Advisory Group of the Australian Commission on Safety and Quality in Health Care (ACSQHC). Natasha says living with this disease means smiling and being grateful for the awesome life she’s lived and feeling proud of herself for mastering the art of dancing in a storm called IMNM.

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Diane started working in England as a lawyer before migrating to Australia in 2002. Deciding upon a career change, Diane studied social work and mental health. In 2019, Diane and all her children were diagnosed with Mitochondrial Disease (mito), a rare, degenerative and incurable condition. Finding very little support for families with multiple members with a life-limiting condition,Diane started her PhD part-time at Charles Sturt University. This has given Diane a sense of purpose and something to aim for, which will also assist other members of this not-so-small community. Identifying as a person with a disability, Diane is a vocal advocate for disability rights and will accept any opportunity to share information and knowledge.

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Archie has spent much of his life seeking answers to complex, unexplained health issues. Diagnosed in adulthood with Wiskott-Aldrich Syndrome (WAS)—a rare genetic immunodeficiency that affects both immune function and platelet production—Archie finally found clarity after decades of misdiagnoses, serious infections, and cancer treatment, including Idiopathic Thrombocytopenic Purpura (ITP), non-Hodgkin’s lymphoma, Common Variable Immunodeficiency (CVID), and ulcerative colitis. In 2021, during the height of the COVID-19 pandemic and when his first child was just six months old, Archie underwent a successful stem-cell transplant that gave him a second chance at life. Now living in Sydney with his partner and children, he advocates for earlier access to genomic testing and shares his story to highlight the power of resilience.

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In 2019, Lucy was diagnosed with Relapsing Polychondritis, a rare and painful inflammatory disease. The diagnosis did not come easily, taking Lucy to London to see a Professor of Rheumatology. Meanwhile, Lucy was very sick while looking after her two children and having to give up her career that she loved as a law academic. Now that Lucy has a diagnosis and can manage her disease, she wants to raise awareness so that others do not have the same difficult journey to diagnosis and treatment as she did. By using the advocacy skills she developed from her time practicing law and the medical knowledge gained since being unwell, Lucy hopes to engage policy makers and medical professionals in meaningful change for people living with rare diseases.

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Lauren lives in Canberra and is mum to Sage, who has an ultra-rare neurodevelopmental condition caused by a pathogenic ‘de novo’ gene mutation, impacting multiple domains of her functioning. Lauren’s knowledge of rare syndromic markers helped spur Sage’s early intervention and diagnosis. A senior social and health policy analyst, consultant, and strategic writer, Lauren was already focused on driving systemic change to improve early diagnosis and support for those with rare conditions. She has researched and co-authored papers examining Australia’s health and support systems in meeting the challenge of rare diseases. Sage’s warmth, resilience, and determination inspire Lauren’s advocacy – both for the small global community of families with Sage’s condition and for all Australians impacted by rare disease. Lauren is also a Graduate and Member of the Australian Institute of Company Directors.

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Ryan Zilioli was unknowingly born with an incurable rare neurodegenerative disease called X-linked Adrenoleukodystrophy, a disease that destroys the myelin sheath that protects the nerves throughout the body due to a mutation on the ABCD1 gene. The adult-onset subtype AMN causes significant chronic neuropathy, axonopathy, mobility limiting spastic paraparesis and Addisons Disease, a potentially fatal adrenal condition. A series of unfortunate medical events led to this devastating diagnosis on Ryan’s 30th birthday. Since, Ryan has shown great resilience in adapting to life with this new set of challenges by living life with purpose and working in the disability sector with the Western Australian All Abilities Football Association. He also volunteers his time at Wheelchairs for Kids Australia, building free paediatric wheelchairs for underdeveloped countries, and Leukodystrophy Australia as a peer supporter whilst also contributing to many projects steering public policy around rare disease and advocacy.

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