February 28th marked the World Day of Rare Diseases, so medical authorities call for awareness of rare diseases and place them as a priority in the social and health agenda.
Rare diseases are those whose frequency is relatively low: one case per two thousand or one case per 100 thousand, which are the rarest. Most rare diseases are genetic and are present throughout a person’s life, even if the symptoms do not appear immediately.
The Rare Disease Day is a day for all of us to take action and, as far as we can, stand in solidarity with the people and families directly affected by rare diseases,”
said Jordana Zalcman, Medical Manager of Sanofi Genzyme.
In the country, San Juan de Dios Hospital (HSJD) has a Specialized Multidisciplinary Consultation on Rare Diseases, where they serve adults. For several years they have been working to incorporate the population is treated at the National Children’s Hospital (HNN) when they turn 15 and stop receiving care there.
Until 2014 some 20,000 Costa Ricans with a rare condition and it was estimated that between 70 and 90 were diagnosed per year.
A patient with a rare disease must visit – on average – 8 different doctors and health centers, before receiving a definitive diagnosis.
In the world, there are more than six thousand rare diseases, which affect 7% of the population. In addition 50% of these diseases appear in the pediatric age.