Have you been diagnosed with Turner Syndrome, Pompe Disease, Hemophilia or Cystic Fibrosis? So you’re one of the 10 million Mexicans who live with a weird illness.
The figure is an estimate from the Mexican Network for Rare Diseases (ReMexER), but there are no verified numbers due to the little knowledge in the country about this type of disease.
To solve this information gap, the geneticist Claudia Gonzaga-Jáuregui leads an initiative from the UNAM Juriquilla Campus in Querétaro, which consists of a registry of diagnosed patients to facilitate the study of these diseases.
“We want to start getting numbers on how many patients are there, which are the diseases that exist in the populationhow common they are, what are the challenges that patients face”, says the Genomic Sciences graduate from UNAM.
The registry has been open since last February, but, says the doctor, they need more participants to have more complete data on these health ills.
“On average, people report having visited eight specialists to have a diagnosis,” he says.
“They jump from doctor to doctor, from exam to exam, for many years, to get a diagnosis.”
This phenomenon – that patients suffer to know their illness – is known as ”
the diagnostic odyssey of rare diseases”, that the registry also intends to lessen.
onzaga-Jáuregui explains that there is
7 thousand rare diseases identified, but the General Health Council of the Ministry of Health only recognizes 20.
The federal government’s Health website lists as rare diseases Turner Syndrome, Pompe Disease, Hemophilia, Spina Bifida, Cystic Fibrosis, Histiocytosis, Congenital Hypothyroidism, Type 1, 2 and 3 Gaucher Disease, Congenital Adrenal Hyperplasia and Homocystinuria, among others.
“Unfortunately, only 20 are recognizedand we do not know exact numbers of how many patients live with a rare disease and how many exist in the country, because there will be different conditions of this type depending on the region,” he indicates.
The geneticist adds that its main objective is to make these patients visible, so that medical personnel take them into account and are trained regarding this health problem.
The World Rare Disease Day It is commemorated on the last day of February.
Its objective is to recognize the existence of these conditions and involve doctors and society in general, says the federal Health website.
WHICH IS A WEIRD ILLNESS?
– The rare or uncommon diseases They are those that affect a few people individually, but in total they are suffered by 8 percent of the world population.
– Currently, there are 350 million people in the world with some disease of this type.
– They are usually a reason for disability and mortality for people, although not all rare diseases are fatal.
– 70 percent of rare diseases start in childhood, and 80 percent have a genetic basis.
Font: Mexican Network for Rare Diseases (ReMexER).
WHERE TO REGISTER?
– On the Mexican Network for Rare Diseases page, in the Registration section, of the link: enfermedadesraras.liigh.unam.mx
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