About Rare Diseases:

 
Did you know

• Rare diseases are actually common
• There are approx 7000 – 8000 known rare diseases
• 6 – 10% of any population is likely to have a rare disease. In Australia, that equates to over 1.2 million people with around 200,000 of these children
• This is similar to the numbers that suffer from diabetes
• 30% of rare disease patients die before age 5
• 80% of rare diseases have identified genetic origins

 
Prevalence

• A rare disease is a disease that occurs infrequently or rarely in the general population
• In order to be considered rare, each specific disease cannot affect more than a limited number of people out of the whole population
  – 1 in 10,000 is the agreed industry definition
• The number of rare disease patients varies considerably from disease to disease
• What is rare in one region or country may not be rare in another region or country

 
Characteristics

• Rare diseases are characterized 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
• 80% of rare diseases have identified genetic origins while other rare diseases are caused by infections, allergies, chemicals/radiation or a combination of environmental and genetic factors
• Rare diseases often begin in childhood, continue throughout life, are disabling and life threatening and are difficult to diagnose
• Most rare diseases have no cure
• On average, the life expectancy of rare disease patients is significantly reduced
• Rare diseases are often chronic and complex, requiring many different specialised health services and community support
• Impacts
• It is increasingly acknowledged that low prevalence does not equal low impact
• 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. They have wide-reaching impacts on families and carers, health professionals, health resources and the wider community

 
Diagnosis

• After the appearance of the first symptoms, there is an initial battle for diagnosis which can last for years
• The lack of knowledge and standard diagnostic criteria for rare diseases often results in either a wrong diagnosis leading to ineffective treatments or a delayed diagnosis by a year of more
• As a result rare disease patients are put at risk. They suffer pointless delays, multiple consultations and are prescribed prescription drugs and treatments that are inappropriate or even harmful

 
Research and Treatment

• After diagnosis, patients and families are too often faced with seriously inadequate health and social care
• Lack of effective treatment is due to both a scarcity of research and to the fact that developing drugs for a small population is not commercially viable without economic incentives
• The lack of appropriate quality healthcare is further hampered by the fact that it requires the combining of different spheres of expertise needed for rare disease patients such as medical specialists, physiotherapists, nutritionists, psychologists etc
• Healthcare professionals are often ill equipped to manage patients with rare diseases due to a lack of education and accessible information, expert advice, as well as guidance on the referral to appropriate qualified professionals
• Equity in access to health and community services is also lacking not only because of the high cost of the few existing drugs and care, but because it has been described as a “postcode lottery” with a large number of rare disease patients having to travel long distances or even move for treatment

 
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