07 August 2015

Survey shows long wait for a diagnosis not rare

Almost a third of respondents to a survey of Australian adults living with a rare disease have revealed having had to wait five or more years for a confirmed diagnosis of their condition.

The results of the survey, which will be presented to the Human Genetics Society of Australasia’s 39th Annual Scientific Meeting in Perth at the weekend, also show that in their quest for a name for their condition, 66 per cent of respondents had consulted three or more doctors before getting a confirmed diagnosis – 12 per cent of these consulting 10 or more doctors – and close to half (46 per cent) of all respondents had been given at least one incorrect diagnosis.

In Healthcare experiences of Australian adults living with rare diseases and the opportunities for clinical practice, the study’s lead researcher, Caron Molster from the Department of Health’s Office of Population Health Genomics canvassed the healthcare experiences of 810 people affected by a rare disease, many of whom reported having multi-systemic dysfunction necessitating care from multiple specialist doctors.

Ms Molster’s paper highlights some of the problems that beset people living with a rare disease including a lack of communication between their specialist doctors which can lead to delayed diagnoses and a perception that they are not viewed as whole people.

“The fragmentation and siloed nature of Australian health systems may contribute to these inefficiencies and to gaps in the diagnostic process for people living with rare diseases,” Ms Molster said.

“The survey suggests people with rare diseases would benefit from better integrated health care systems and more co-ordinated individual care.

“It also provides a compelling case for the development of multi-disciplinary centres of expertise in rare diseases.”

The online survey was conducted in July and August of last year.

The HGSA meeting Rare Diseases and Indigenous Genetics is at the Perth Convention and Exhibition Centre from 8 – 11 August.

About rare diseases

  • Rare diseases are conditions – usually genetic in origin ­­– that affect fewer than one in 2000 people.
  • Rare diseases are commonly life-threatening or chronically debilitating, cannot be prevented, are incurable, have no effective treatments and are associated with significant pain and suffering.
  • People with rare diseases are likely to have multi-systemic dysfunction and complex care needs across a wide range of health services.
  • Estimates suggest there may be up to 8000 different rare diseases, collectively affecting up to 8 per cent of the population.
  • In Western Australia this equates to approximately 190,000 people, of whom about 60,000 would be children.
  • Some rare diseases are so uncommon that they affect just one family in all Australia. This makes diagnosing such conditions a real challenge.
  • Rare diseases include conditions such as muscular dystrophy, cystic fibrosis, neurofibromatosis, early-onset Parkinson’s disease, Huntington’s disease and early-onset Alzheimer’s.

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