Each year the team at Hunter Genetics see around 1000 new families. Many of these individuals and families have a rare disease with a low prevalence, generally affecting less than 1 in 2000 people.
Rare diseases often begin in childhood, are disabling or life-threatening and can be difficult to diagnose. For many of these conditions there is no effective treatment.
Dr Tracy Dudding-Byth, Clinical Geneticist at Hunter Genetics, NSW GOLD (Genetics of Learning Disability Service) and a founding Director of Rare Voices Australia said it is estimated that there are 7000 distinct rare diseases, which collectively affect 6% of the community.
‘The paradox is that although each condition is individually rare, it is not uncommon to have or know an individual with a rare disease,’ Dr Dudding-Byth said.
‘When we go to the doctor with a set of symptoms, we expect that our doctor will make a diagnosis which will guide our management and treatment, however, for most people with a rare disease, to actually have a diagnosis is a major achievement,’ she said.
Over the past five years high through-put DNA sequencing has revolutionised genetic medicine.
In addition to an escalation in rare disease gene discovery, this technology will significantly improve diagnostic rate.
Many of the conditions diagnosed are unheard of by the majority of the population; people with these conditions struggle to have their voice heard above the more common life-threatening diseases in the community.
However, Rare Voices Australia (RVA), established in 2012, brings individuals with different rare diseases together to provide a strong common voice.
RVA works with governments, researchers, clinicians and industry to promote research, diagnoses, treatment and services for all rare diseases in Australia.