Rare diseases

What are rare diseases?

Rare diseases are conditions which are:

• life-threatening or chronically debilitating
• statistically rare (less than 1 in 2,000 people living with the condition)
• complex, meaning special combined efforts are needed to address them.

There are approximately 5,000 to 8,000 different rare diseases and most have a genetic origin. While there are many different rare diseases, they have many things in common including that they often:

• have no cure
• cannot be prevented
• have no effective treatment.

Examples of rare diseases

Rare diseases come in many forms and include some cancers, auto-immune diseases, metabolic conditions and inherited malformations. Some examples of rare diseases are:

• cystic fibrosis
• muscular dystrophy
• spina bifida
• haemophilia.

How common are rare diseases?

Each disease itself is rare but in total around 1.2 million people in Australia are living with a rare disease. Around 400,000 of those living with a rare disease are children.

Rare diseases are often genetic and can be passed down through your family. However most rare diseases will develop in people with no family history of the condition.

Testing for rare diseases

A small number of rare diseases are found shortly after birth when babies receive the newborn baby screening test. Most of the conditions screened for can be treated if diagnosed early, which will prevent mental and physical disability and death.

However, most rare diseases will be diagnosed later in life. In these situations if your doctor thinks you or your child might have a rare disease they might refer you to have a genetic test. They might also refer you to Genetic Services WA for genetic counselling.

Living with a rare disease

If you are living with a rare disease it is likely that you, your family and/or carer will need access to a range of services including:

• clinical specialists
• disability support
• information
• social support.

Many people living with rare diseases find it helpful to be part of a support organisation so that they can hear stories and share experiences with people who are in a similar situation.

What is happening in WA?

Awakening Australia to Rare Diseases was a national rare disease symposium held in Fremantle in 2011. The two key messages from this event were that there is a need for:

• an umbrella organisation to represent everyone living with a rare disease
• a collective approach to planning for rare diseases.

In response to this, Rare Voices Australia was established to be the unified voice for all Australians living with a rare disease. The Western Australian Department of Health has developed a state strategy for rare diseases called the WA Rare Diseases Strategic Framework 2015-18 (external site).

More information

If you would like more information about specific rare diseases please visit the Orphanet (external site).

If you are interested in finding a patient support organisation, please contact Rare Voices Australia.

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This publication is provided for education and information purposes only. It is not a substitute for professional medical care. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your healthcare professional. Readers should note that over time currency and completeness of the information may change. All users should seek advice from a qualified healthcare professional for a diagnosis and answers to their medical questions.