“In Australia there’s about 1.5 million people affected by rare diseases”, says Dianne Petrie, the director of the Association of Genetic Support Australasia.

With so many people in Australia being affected by such rare diseases, a recent article entitled: “Rare disease stories shared” was published by ABC News recognising the impact of rare diseases on Australian families. People are being urged by the Association to share their stories of challenges and treatments, especially those from the Hunter region. The Association is hosting an expo in May in order to uncover gaps in the servicing of rare illnesses in the Hunter.

In the Hunter area of Australia alone, there are 158 families that have contacted the Association of Genetic Support Australia for information about rare diseases.

Some of the rare diseases facing Australians include Williams syndrome, or WS, which is a rare neurodevelopmental disorder. Another rare disease is Beckwith-Wiedemann syndrome which is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features.

Other rare diseases that some Australians have been diagnosed with include Noonan syndrome, hemochromatosis, hereditary spastic paraplegia, spinal muscular atrophy, incontinentia pigmenti, and many more.