What are rare diseases?
Rare diseases, also known as rare disorders or orphan diseases, are characterized by their low prevalence, as it is estimated that less than 5 in every 10.000 people are affected by them in the European Union, according to the European Commission in 2004. These diseases often manifest in pediatric age, many of them are of genetic or congenital origin, and they can present a severe chronic course with multiple motor, sensory and cognitive deficiencies. Diagnosis and recognition can be highly complex and clínical. Once diagnosed, both patients and their families often feel perplexed and distressed due to the lack of knowledge and uncertainty about their new situation.
In Spain, there are approximately 3 million people affected by rare diseases, which represents around 6% of the population. Of these people, 75% are under 18 years old, and 80% have an ultra-rare disease, which means that it affects less than 1 person per 50.000 inhabitants
Rare diseases are a significant public health problem since most of them are chronic, degenerative, and disabling. Moreover, the majority of people who suffer from them have difficulties accessing accurate diagnosis and appropiate treatments, which entails a great emotional and economic burden for both the patient and their family.
That is why there are associations like ours that work to improve the quality of life of people affected by rare diseases, offering information, support, resources, and guidance to patients and their families
There are more than 7.000 rare diseases in the world, affecting over 400 million people
In Spain, it is estimated that there are around 3 million people suffering from a rare disease
Most of these diseases are of genetic origin and occur due to a mutation in the genes
It is estimated that the average time to diagnosis is 5 years from the onset of symptoms