Rare diseases, including those of genetic origin, are those with a risk of death or chronic disability and a low prevalence, lower than 5 per 10,000 people in the European Union. They represent a total of 246,000 people within the twenty-seven member states of the European Union. It is estimated that, currently, there are between 5,000 and 8,000 rare diseases, which affect between 6% and 8% of the population, which is about between 27 and 36 million people in the European Union. The majority of these diseases are even rarer and affect around 100,000 people.
About 80% of rare diseases have a genetic origin, which is a 4% of births. Other causes can be infectious, allergic, degenerative, or proliferative.
Because there are not many cases, only some serious pathologies have been identified as rare diseases. These diseases present, almost always, the following characteristics:
- Serious, chronic, and degenerative diseases that generally are a danger to the patient’s life.
- Incapacitating diseases that result in a low quality of life and autonomy loss.
- Diseases that involve high levels of pain and suffering for the patient and their family.
- Diseases that have no treatment, but their symptoms can be treated to improve the patient’s expectations and quality of life.
These kinds of diseases entail many adverse situations both on a medical level and on a social one. These serious pathologies, that often endanger the patient’s life, have been barely studied. Because they are not well-known, they are diagnosed late if at all, and the specific treatments are absent in most cases. Doctors’ lack of knowledge makes decision-making, by the healthcare system, inadequate too. The lack of information and competent professional guidance; access to good-quality primary healthcare and social benefits; the poor organization of hospital and external care; and the integration difficulties regarding work, social, and family environments are other difficulties that affect the patients.
Interest in rare diseases is relatively new in Europe. Up until recently, public healthcare authorities and legislators did not pay them much attention. Now, this can be understood better. It is clear that it is impossible to establish a specific public healthcare policy for each rare disease, but a joint approach can offer some solutions. A joint approach means that none of them goes unnoticed and that public healthcare policies can be established on scientific research and biomedicine, galenics research and development, industrial politics, information and training, social benefits, outpatient hospitalization, and treatment.
Rare diseases search engine Orphanet.
This website’s objective is to contribute to improving diagnosis and the care and treatment of rare disease patients. It has the support of the World Health Organization (WHO) and it is the recommended website to look up any rare disease.
EURORDIS is a non-governmental alliance managed by patient organizations and other people active in the field of rare diseases in Europe.
CIBERER is the Biomedical Research Centre in the Rare Diseases Network (Centro de Investigación Biomédica en Red de Enfermedades Raras). It is an Instituto de Salud Carlos III initiative that gathers and promotes the excellence research done in Spain with the objective of finding diagnoses and treatments for those affected as quickly as possible.
Servei Català de la Salut’s care model. CATSALUT
IPER (Instituto Pediátrico de Enfermedades Raras)
Sant Joan de Déu Hospital, since February 20215, has had a transversal specific service: Rare Disease Pediatric Institute (Instituto Pediátrico de Enfermedades Raras), also called IPER, created to make progress regarding knowledge and research of rare diseases, to offer comprehensive on-site care to more than 100,000 rare disease patients.