It is estimated to exist in Portugal 600 000 to 800 000 people living with rare diseases. Moreover, most of these people suffer from diseases whose prevalence is less than 1 in 100 000 people, i.e., affecting less than 100 patients in the country, however, the social burden of rare diseases reaches beyond the patients and their families especially if they suffer from a more disabling condition.
In Portugal, the National Health Plan 2004-2010 recognizes that rare diseases contribute significantly to morbidity and mortality during the first 18 years of life. For all these reasons, the General Directorate of Health developed the National Program for Rare Diseases, which, was approved in November, 2008 by the Portuguese Ministry of Health.
The impact of these diseases is multiplied by the difficult and, in general, late diagnosis, which contribute to the lack of information by health professionals, the inefficiencies in the referral of patients to specialized services more appropriate, and by failing to set yet, in Portugal, the Centers of Reference.
A Commission for the Coordination of the National Program for Rare Diseases was created in April 2009, although there aren’t yet any major contributions and developments on the Portuguese Rare Disease setting.
The creation of a network of Centers of Reference, which is part of the National Program for Rare Diseases, is also one of the claims of the Portuguese Alliance for the Rare Disease Patient Associations, which intends to minimize the gap of registration and screening of these diseases.
Work has been done but we are many steps behind of the perfect scenario for patients with rare diseases.