A Diagnostic Odyssey - Red Flags in the Red Sand
There are 5,000-8,000 known rare diseases which when combined are estimated to affect up to 6-8 per cent of the population. Rare diseases are a public health priority. In WA, they collectively affect up to 190,000 people, including 63,000 children. In this article Dr Gareth Baynam presents a case study of a young girl with developmental delay as she is taken through the diagnostic process. he provides practical tips on how to shorten the diagnostic odyssey.