What are rare diseases?
Individually, its incidence is very low, but it is estimated that millions of people suffer from rare or uncommon diseases detected in the world. Get informed and get vaccinated against indifference.
What are rare diseases?
The rare diseases whose incidence is less than one case per 2,000 persons. More than 7,000 rare or infrequent diseases have been identified, and although taken individually, they may appear to affect a small group of the population. It is estimated that they affect 7% of the world’s population.
This estimate of the incidence of this type of pathology worldwide has been obtained thanks to the Orphanet database, which records the largest amount of epidemiological data from the scientific literature. Human Genetics has been the first to analyze the available data on rare diseases with such precision.
Also, many of the patients do not even know what disease they suffer from due to the difficulty of diagnosing conditions for which little data is available (less than 30% of medical and scientific knowledge is available). The average for diagnosing these pathologies is five years, and 20% takes up to 10 years to obtain a diagnosis – and due to the shortage of professionals with specific training in the area of residence of the patients, who are geographically dispersed, which further complicates their care custom once determined its wrong.
In this sense, the consequences of the delay in diagnosis can be serious for the patient, who is deprived “of being able to access timely therapeutic options with the consequent clinical worsening or sequelae that could have been avoided. Something that currently occurs in 27% of patients, although in recent years the diagnostic delay has been progressively reduced”, as highlighted by Dr. Jordi Gascón, spokesperson for the Neurogenetics and Rare Diseases Study Group of the Spanish Neurology Society (SEN).
In approximately eight out of ten cases, the cause is usually genetic, although infectious agents, environmental factors, and other unknown causes can be the origin of a rare disease. Approximately 45% to 50% of rare conditions have neurological symptoms, and more than half begin to manifest during childhood.
In half of the cases, rare diseases usually appear in pediatric age. However, its prevalence is higher in adults than in children due to the high mortality of some serious childhood diseases.
Main problems of patients with rare diseases
Another obvious problem these patients face is the lack of specific treatments, or the price of existing ones, in many cases unattainable for families. It is estimated that four out of 10 ten affected by a rare disease do not receive adequate treatment for their problem. As Dr. Gascón admits, “the medical and scientific knowledge of rare diseases is still very scarce, and the research that is carried out both in the knowledge of them and in the search for treatments is even more so. Promoting research in rare diseases is something that needs to be promoted”.
On the occasion of the celebration of World Rare Diseases Day (on February 28), the FEDER, together with other groups, usually disseminates an awareness campaign to raise awareness in society to know these pathologies the problems faced by those affected are better understood. Means are put in place to guarantee their rights.
