Geoff Lyons (Bass, Australian Labor Party) Share this | Hansard source

I rise a today to speak on the motion proposed by the member for Shortland regarding rare diseases. Rare diseases are often chronic and complex, requiring many different specialised health services and community support. They are defined as a condition, syndrome or disorder that affects one in 10 000 people or less. There are more than 8,000 known rare diseases. Eighty per cent of rare diseases affect children and most begin in childhood and continue throughout life. Although each disease is rare collectively, they affect up to 10 per cent of the population.

Neurological and intellectual disabilities occur in about half of all cases, regardless of disease type, and lead to loss of independence and opportunities. Obtaining a diagnosis is often difficult and delayed, and many have no cures. Trying to find an underlying diagnosis for many conditions can be a very long and frustrating experience. With particularly rare conditions, a diagnosis can often take many years. Rare diseases are characterised by a large number of broad and diverse disorders and symptoms that vary not only from disease to disease, but also within the same disease.

According to the Steve Waugh Institute, 80 per cent of rare diseases have identified genetic origins while other rare diseases are caused by infections, allergies, chemicals or radiation or a combination of environmental and genetic factors. Statistics show that rare diseases often begin in childhood, continue throughout life, are disabling and life threatening. Families and carers of children with rare diseases experience significant psychological stress due to stigmatisation, social isolation, unemployment, diagnostic delays, lack of information and difficulty accessing appropriate health care. The impacts of rare diseases go beyond affected individuals. There are wide-reaching impacts on families, carers, health professionals, health resources and the wider community.

For all rare diseases, research can provide some answers. Many rare diseases can now be diagnosed through a biological sample test. Researchers are increasingly working through networks in order to share the results of their research and to advance more efficiently. In Australia there is a general lack of awareness of the impacts of rare diseases and in the past there was a lack of strong and coordinated advocacy. However, Australia is in an excellent position to learn from extensive international initiatives. The Australian Paediatric Surveillance Unit convened the National Rare Diseases Task Force to develop, seek wide endorsement and advocate for the implementation of a national plan to support research, education and service development and to promote awareness of rare diseases. They also provide advocacy for affected individuals and their carers. I wish them well in their endeavours. Organisations representing sufferers and their families, health professionals and researchers are excellent advocates for rare diseases. In rural and regional areas, however, these organisations are less accessible.

We know that early and accurate diagnosis and appropriate management will reduce the costs and morbidity associated with rare diseases and will enable prevention. As I have said in this place many times before, the only way to get good results for an efficient price in health is to do it right and to do it early. Rare diseases pose a challenge to people working in primary, secondary and tertiary health settings. For many rare diseases standardised diagnostic criteria do not exist, which leads to delay of treatment. Investigations and diagnostic delays of a year or more are common.

The National Rare Diseases Working Group convened by the Australian Paediatric Surveillance Unit have stated that families affected by rare diseases need accurate, accessible and locally relevant information about rare diseases including descriptions of signs, symptoms and prognosis, and opportunities to access educational courses and other educational resources. These are available but they need proper access.

I thank the member for Shortland for putting this on the agenda. It is important. I would also like to thank the people who assisted one of my constituents with a rare disease in obtaining life-saving drugs at a reasonable price.

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