Rare Diseases (RA) receive this name because they are rare diseases, that is, each of these diseases affects only a few people. It is estimated that there are around 8,000 Rare Diseases and that 75 percent of them are of genetic origin because in the development of these diseases there are more than 2,300 genes involved, according to the latest studies carried out.
This is because a gene can give rise to numerous mutations, although some of them are more frequent than others. It must be taken into account when talking about Rare Diseases, that a defect in a certain gene can cause different diseases.
Taken together, Rare Diseases affect approximately 6-8 percent of the population. There are around 3 million affected in Spain and about 20 million in the European Union.
It is estimated that 2/3 of the total begin before 2 years of age, causing 35 percent of deaths during the first year of life, 10 percent between 1 and 5 years of age, and 12 percent. percent between 5 and 15 years. It has been said that 1 in 4,000 children are born sick.
In the European Union (EU), those diseases whose prevalence is less than 5 per 10,000 inhabitants are considered Rare Diseases, but figures of less than 2 per 10,000 are also being handled. Depending on the countries, the figures vary.
The common characteristic of Rare Diseases is that they are infrequent in the population, that is, the prevalence of each of these diseases in the population is less than 5 per 100,000 inhabitants. These pathologies are very heterogeneous and diverse. They have some characteristics that differentiate them from the rest:
1. Its diagnosis is usually complex and it requires highly specialized knowledge and techniques or is particularly complex (sometimes the necessary tests are only performed in very few centers).
2. They require highly specialized medical management and they require the participation of several specialties and different disciplines.
3. They are generally serious diseasesChronic and in many cases disabling, they usually require special, complex and prolonged care.
4. It is estimated that there is between 5 and 10 years of delay in the diagnosis. Only about 250 diseases are assigned a code in the International Classification of Diseases (ICD) of the World Health Organization, which makes their approach even more difficult.
Sometimes they are little-known diseases, but other times they are known, but due to their infrequency in clinical practice, they are not taken into account as a first diagnosis. As a consequence, if the disease is severe and rapidly evolving, without treatment it can cause the death of a newborn, or leave sequelae.
Symptoms may be present from birth and one must think of a Rare Disease when they are not typical of any other or there is an atypical association of symptoms. They can appear at any age, but above all they make their debut in the first two years of life.
Precisely because it affects a small number of people, research has progressed slowly. However, in recent years, laboratory techniques have improved and the number of diagnoses has increased. Currently, more than 50 different genetic diseases can already be detected with just a single paper blood sample from the newborn. The objective is to find more effective treatments that, although not curative, allow to improve the quality of life of those affected.
Advice. Professor María Teresa García Silva, Coordinator of the Unit of Mitochondrial Diseases and Hereditary Metabolic Diseases, of the Pediatric Unit of Rare Diseases of the Hospital Universitario 12 de Octubre, Madrid.
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