Rare diseases masquerading as asthma

“Patients with a rare disease are frustrated by how little is known about their particular disease and often have difficulty finding a suitable specialist to look after them,” said Professor Adam Jaffe, head of paediatrics at the School of Women’s and Children’s Health, University of New South Wales. 

Collectively, rare lung diseases affect 6–10% of the Australian population, which amounts to about 1.2 million people. 

"It is a significant number and the problem is, because we do not see a lot of these cases, they are either misdiagnosed or diagnosed too late,” Professor Jaffe told the annual meeting of the Thoracic Society of Australia and New Zealand in Adelaide on Sunday. 

“Even when they are diagnosed, we do not have centres of excellence where patients can access multidisciplinary specialists, or access to clinical trials, and international recognised best practice care. So often these