Today, February 28, is Rare Disease Day; these are conditions with a low prevalence, affecting fewer than 5 in 10,000 individuals.
Despite their low prevalence, according to the Spanish Federation for Rare Diseases (FEDER), it is estimated that there are more than 7,000 types. This means that approximately 3 million people in Spain are affected, representing 6.5% of the population.
The diagnostic process constitutes one of the main challenges, as this period involves living with symptoms, navigating the uncertainty of not knowing what is happening, and seeking a specialist capable of identifying the condition. In fact, most people wait an average of 4 years to receive a diagnosis, and around 20% wait up to 10 years. These diagnostic delays lead to a worsening of the condition in 31% of cases, which could have been prevented through early diagnosis. Regarding treatment, it also represents a complex pathway, as approximately 42.68% receive no treatment or inadequate treatment.
As might be expected, these conditions have a negative impact on the autonomy of the individuals who live with them; in fact, 33% have an officially recognized disability.
The key lies in early diagnosis and the prompt initiation of treatment; to achieve this, it is essential to improve these processes by investing in research and raising social awareness of these realities.
