Ecuador is 50 years behind the countries of its environment in health due to lack of medical research and official records, said Thursday a defense association for patients with rare diseases.
The president of Fepel Dasha, Eliecer Quispe, explained to Efe that, while Colombia is using genomic medicine in hospitals, in Ecuador there are “no laboratories to reach a diagnosis”.
In this regard, he regretted that there are no records or policies in the country to assist patients of this type of diseases of low population incidence, rare and without established medical treatment.
For example, he cited that the only list that exists with rare diseases was updated for the last time in 2012, and there are 106 pathologies that are mixed between rare, orphan and catastrophic, which are types of complex cancers or disorders that involve a high cost economic.
Likewise, neonatal screening, that is, the blood test to detect if the newborn is a carrier of any of the diseases investigated by the test, only includes four pathologies: Adrenal Hyperplasia, hypothyroidism, galactosemia and phenylketonuria, all related to the intellectual disability, according to the Ministry of Public Health (MSP).
For example, in Germany, said Quispe, this neonatal screening test includes 115 different diseases.
On the other hand, although the 2008 Constitution defends in its articles up to 77 principles in favor of life, the truth is that most of them cannot be obtained due to the lack of resources available to the State.
A regulation tries to include rare, orphan and catastrophic diseases within the Organic Law of Health since 2012 without reaching any point since, according to Quispe, remains “captive” in the National Assembly, and has not been socialized with the actors involved.
The fear of associations to fight against rare diseases is that the new regulations are approved by the assembly members without knowing their opinions as it could harm approximately 7% of the Ecuadorian population, according to calculations of the World Health Organization (WHO)
This organism estimates that 7% of the population of the different territories would be affected by some of the 6,000 to 8,000 known and registered rare diseases.
“We are the world capital of several diseases, which makes the situation more critical. To cite just two examples, for microtia (the lack of an atrial pavilion), Quito is the world capital, and we also have the Laron syndrome (dwarfism): three quarters of the total number of patients are in Ecuador, “Quispe said.
According to data from the Ecuadorian Institute of Social Security (IESS), microtia has an incidence in the world of 1 per 1,000 births, while in Ecuador it increases to 16 per thousand, while the Laron syndrome and Russell Silver (growth retardation) have experienced a higher incidence in recent times compared to other countries.
In addition, the president of Fepel Dasha criticized that the State only grants economic aid to patients of rare diseases when “they present damages of anatomical or physiological type notorious”, mainly because in the majority of these pathologies “they are not visible nor physiologically nor anatomically out”.
The world commemorates on Thursday the Rare Disease Day, of which every year there are known, on average, 250 new conditions, according to the geneticist of the Specialty Hospital Carlos Andrade Marín of Quito, Víctor Hugo Espín.
Of these, 80% can be genetic and others have an autoimmune or hematological origin, among other causes.
Only this hospital attended in 2018 to 176 patients with multiple sclerosis, 86 of dwarfism, 64 of cystic fibrosis, 56 of primary pulmonary hypertension, 51 of muscular dystrophy and 35 of autism in childhood, considered rare diseases in Ecuador by the MSP at its low incidence compared with other states. (I)