Rare Diseases

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

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
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

30% of families consulted between 6 and 20 doctors before getting the right diagnosis
2/3 of children are admitted to hospital at least once a year
Each child averages 9 visits to a specialist per year
Each child averages 24 visits to allied health professionals (such as physio-, speech-, and occupational therapists) per year
Each child attends their General Practitioner 10 times per year on average

Equal access to quality healthcare
Greater coordination of health services
Greater recognition of the health, economic, and psychosocial challenges they face – Increased research effort nationally and internationally
New diagnostic procedures and treatments
Accurate and reliable information and education about rare disease for families and health professionals
A coordinated national plan