The council of the European Union states “Rare Diseases are a threat to the health of EU citizens in so far as they are life threatening or chronically debilitating diseases with a low prevalence and a high level of complexity”. In 2009 the European Rare Diseases Patients Organisation (EURORDIS) published the “Voice of 12,000 patients”. Individuals with a rare disease and their families reported on years of waiting for a diagnosis, after misdiagnosis and numerous physicians’ visits. Some were rejected by health care professionals because of the complexity or associated symptoms.
EAP responded with the establishment of a Rare Diseases Strategic Advisory Group. The majority of the over 6,000 different rare diseases present in childhood. In the paper “The Importance of Rare Diseases: from the gene to society”, Dodge et al ADC, 2010, is described why and which support is needed from European paediatricians for the thousands of children with rare, disabling and life-threatening conditions.
Rare Diseases Strategic Advisory Group members have been organising and presenting in over 10 different national and international paediatric and rare disease conferences.
Appropriate early identification, diagnostic confirmation, and longitudinal management provide the gateway to the prevention of illness and optimal overall health for children with rare and chronic conditions. The Rare Diseases Working Group supports actions towards a joint global reinforcement of a holistic approach of each child with a rare and chronic condition.