“Rare diseases are life threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Most of them are genetic diseases, the others being rare cancers, auto immune diseases, congenital malformations, toxic and infectious diseases among other categories” (European Commission, Public consultation on Rare diseases, February 2008)
Childhood cancer is a rare disease:
- 75% of rare diseases affect children
- 30% of rare disease patients die before the age of five
- Cancer is the first cause of death by disease beyond the age of one year in Europe
Despite their rarity, the 186 rare cancers – including all cancers in children – represent in total about 22% of all cancer cases diagnosed each year in Europe. Moreover, research into rare diseases – also called ‘orphan diseases’, as they are orphaned by research focus and market interest as well as public health policy – has been fundamental in the development of many innovative medicinal products that received market approval in the EU.
Many of the issues at stake for SIOPE are similar to those of general rare disease organisations, as patients with rare cancers are faced with common challenges:
- Late or incorrect diagnosis
- Lack of commercial interest in developing new therapies (by the pharmaceutical industry)
- Difficulties finding clinical expertise and accessing appropriate treatments
- High uncertainty in clinical decision-making
- Difficulties carrying out clinical studies due to the small number of patients
- Scarcity of available registries and tissue banks
- Insufficient medical training on each specific disease area
- Lack of information among the general public
Awareness raising initiatives as well as advocacy activities at the European level are therefore needed to place the issue of rare cancers firmly on the European policy agenda, identify and promote appropriate solutions and to exchange best practice. Every February, the International Rare Disease Day is celebrated in more than 60 countries worldwide, with national alliances for rare diseases, patient organisations, caregivers, researchers, public authorities and companies developing orphan products to get involved in Rare Disease Day events.