Rare Disease Day

The 28th of February is Global Rare Diseases Awareness Day. Did you know that rare diseases are actually common? There are about 8000 rare diseases affecting an estimated 1.5 million Australians, including about 300,000 Australian children.

The Australian Paediatric Surveillance Unit convened a rare diseases meeting in Sydney on the 9th February to discuss the need for a more co-ordinated approach to providing health care and support for Australians affected by rare diseases.

The meeting was attended by a group of eminent researchers, health professionals and family support groups, including representatives from the European Rare Diseases Organisation and the New Zealand Rare Diseases Organisation. We discussed the need for an integrated patient support organisation for Australians affected by rare diseases, improved access to information and education for health professionals, and new models of healthcare.

Discussions highlighted the striking similarities among the ~8000 rare diseases:

Most begin in childhood (usually diagnosed in children aged < 2 years) and continue throughout life
Obtaining a definitive diagnosis is often difficult and delayed
Many rare diseases have no cure or require new high-tech and often expensive treatments
Neurological and intellectual disabilities occur in about half of all cases regardless of disease type and lead to reduced independence and opportunities
Families experience isolation, psychological and financial stress
Health professionals have inadequate access to information, education and resources
It is estimated that about 35% of deaths in children aged <1 year are due to rare diseases

The European Union, Canada, the UK and New Zealand have recognised the complex problem of rare diseases and are responding by establishing national support organisations for rare diseases, by making rare diseases a public health and a research priority and by developing integrated clinics that pool expertise to enable quicker diagnosis and better access to treatments and interventions.

A Creswick Foundation Fellowship will allow Dr Zurynski to study health and community services for rare diseases operating overseas and to implement this knowledge in Australia.

The second Rare Diseases Global awareness day will be held on the 28th of February 2009 and Australian organisations such as the Smile Foundation and Association of Genetic Support of Australasia will be holding an event to highlight the importance of rare diseases and the Australian Paediatric Surveillance Unit has joined the global effort to raise awareness of rare diseases.