Rare Diseases
There are an estimated 6000 - 8000 rare diseases world-wide, however, many have no given name and are often difficult to diagnose. A rare disease is also known as an orphan disease and typically affects only a small percentage of the population individually. Collectively rare diseases affect from 6%-10% of the population. Rare diseases often have a high impact on the person with the disease as well as their family and/or caregivers. There are several common features found in rare diseases, including: onset in childhood, challenges in diagnosis, lifelong health problems and/or disability and have no cure. Usually rare diseases are complex entities which require a multidisciplinary approach to care and management.
Because of the rarity of these diseases it is common for there to be delays in diagnosis, as many clinicians will rarely come across the disease in daily practice. There is very often a sense of isolation when diagnosed and a corresponding lack of support services, not only for the person affected but also for parents and other family members. Treatments are often lacking, as are many of the services required to support those with rare diseases. Additionally, information, particularly in the local context, is often difficult to find or access. Many times there will be an increased financial cost in supporting and meeting the complex medical needs of a person with a rare disease.
There is no internationally accepted definition of what constitutes a rare disease, with differing definitions or classifications depending on each country. Some definitions may be based solely on the numbers of people in the population affected, whereas definitions in other countries may take into consideration not only numbers, but also other impacting factors. In the European Union, a rare disease is classified as one that affects less than 5 in 10,000 of the general population. In Australia, the Therapeutic Goods Authority considers a disease to be rare if it has a prevalence of 1 in 10,000 people or less. (Prevalence is the term used to describe the number of people living with a disease at a given point in time).
Epidemiological data to determine the incidence and prevalence of PSC is not well established internationally. A recent systematic review of the incidence of PSC in Europe and North America was conducted by Molodecky and colleagues in 2011. They found that higher quality population-based studies estimated the incidence rate of PSC to be 1:00 per 100,000 person-years. Limiting factors in determining the incidence of PSC through this systematic review included the small numbers of studies on PSC available, incomplete demographic information, varying quality of the studies and the lack of prevalence data. Currently, there is no research or an other data available to determine the incidence or prevalence rates of PSC in Australia.
The good news for those with rare diseases in that the World Health Organisation's International Classification of Diseases (ICD10) is currently undergoing a review process and is due for release in 2018. The ICD is used to determine the incidence and prevalence of diseases and other health problems and provides a global perspective. Many rare diseases will be incorporated into ICD 11 allowing for a more accurate determination of prevalence and incidence of PSC in Australia and internationally. For further information there is a Beta draft available for perusal and there is also a Facebook page providing updates of the review process.
References
Molodecky, N.A. et.al, Incidence of Primary Sclerosing Cholangitis: a Systematic Review and Meta-Analysis, Hepatology, 2011, 53 (5): 1590-1599.
Elliott, E, The National Rare Disease Task Force
Rare Voices Australia
Rare Voices Australia (RVA) is the national advocacy group for rare diseases. It is a not-for-profit organisation acting as the umbrella group for all rare diseases Australia wide. It was established in 2012 with the vision to be "the unified voice for ALL Australians living with a rare disease". The following is taken directly from their website:
"RVA is Australia's national organisation advocating for those who live with a rare disease. RVA provides a strong common voice to promote for health policy and a healthcare system that works for those with rare diseases. RVA works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare diseases in Australia. RVA are the unified voice of 1.2 million plus people affected by rare diseases through Australia (6-8% of the population) and 70 million globally.
Rare Voices Australia (RVA) was established in response to the consensus call from over 200 national attendees at the inaugural ʻAwakening Australia to Rare Diseasesʼ international symposium held in Fremantle, Western Australia, in 2011. Read more about the outcomes of the WA 2011 symposium here.
RVA provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare diseases. RVA works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare diseases in Australia.
RVA aims at advocating for improved quality of life of people living with a rare disease in Australia through advocacy at a National level, support for research and drug development, networking patient groups, raising awareness and other actions designed to fight against the impact of rare diseases on the lives of the patients and families".
Please go to the Rare Voices Australia website for further information by clicking here.
Rare Diseases in the Australian Context
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Page created 21.03.2014
Updated: 03.09.2015