Rare Diseases in General Practice

An estimated 2 million Australians live with a rare or undiagnosed disease.

In WA, it is estimated that 63, 000 children are affected by a rare disease and every full time GP has at least 70 patients with a rare disease on their books. Rare diseases, like many other chronic diseases, are often serious and progressive. However, due to the individual rarity of their disease, people living with rare disease worldwide face distinct challenges related to diagnostic delay, lack of care coordination, stigmatisation.

Topics:

• The commonality of rare diseases
• The Rare Diseases Diagnostic Odyssey
• Available referral pathways
• Resources for health professionals

Presenters:

• Dr Gareth Baynam, Clinical Geneticist and Medical Director, Rare Care Centre, Perth Children’s Hospital
• Sian Gannon, Clinical Nurse Specialist, Rare Care Centre

Presented by WA Primary Health Alliance and the Rare Care Centre.

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