A rare disease can be defined as one that affects less than five in 10,000 people. In Australia, around 8% of the population, which translates to roughly 2,000,000 people, live with a rare disease. Rare diseases are debilitating and can cause serious negative implications for those afflicted by them, including death. Since 80% of rare diseases are genetic, studies have shown that one-half of all rare diseases affect children. The great complexity and unmet need in rare diseases can be overwhelming for the entire sector: for policymakers, clinicians, practitioners, researchers, academics, industry and especially for people who live with rare diseases.