The squeakiest wheel gets the most oil...

A condition (disease, syndrome or disorder) is classed by the European Organisation for Rare Diseases as rare if it affects less than 1 in 2000 people. In Australia the Therapeutic Goods Authority describes something as rare if it has a prevalence of 1 in 10,000 people or less.

There are approximately 8000 known rare diseases, collectively affecting 6-10% of the population. Rare diseases have the following common features;

  • Most begin in childhood (usually diagnosed in children aged < 2years) and continue throughout life
  • Obtaining a definitive diagnosis is often difficult and delayed creating great stress for those involved
  • Many rare diseases have no cure and some can be prevented
  • Neurological & intellectual disabilities occur in about 1/2 of all cases
  • Families experience isolation, psychological and financial stress
  • Health professionals have inadequate access to information, education and resources
  • 35% of deaths in children aged < 1 year are due to rare diseases
  • ~10% of deaths in children aged between 1 and 15 are due to rare diseases

Research, awareness & money are understandably directed at more common diseases & disorders. Collectively, rare diseases are as common as diabetes- which has been described as a National Epidemic! 

Belgium, Denmark, Europe, France, Germany, Greece, The United States, Italy, Netherlands, Canada, New Zealand, Spain, Sweden, Taiwan all have National bodies to support rare diseases.

Rallying support for an Australian National Plan for Rare Diseases

There is an urgent need for a National Plan to address rare diseases in Australia, to facilitate a coordinated response to service development, carer support and health, professional and community education, and support research and promote advocacy on behalf of affected children and their families. As a first step, APSU convened a working group in 2009 to develop a Draft National Plan for Rare Diseases in Australia, which is available for comment on the The Australian Paediatric Surveillance Unit (APSU)website.

Do you support a National Plan for Rare Diseases for Australia? Register your support by completing the brief survey collated by the APSU here

 

"A rare disease is only rare if its not happening to someone you love" - Elle McPherson (SMILE Foundation)