Schools and homes are the main places where children and adolescents should learn Don’t discriminate and to include in all aspects people with other types of conditions, e.g. girls and women with Turner syndrome, a rare disease recognized in Mexico.
The World Health Organization pointed out that for more than 7,000 diseases to be classified as “rare”, they occur in fewer than 5 people per 100,000 population.
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According to Department of Health (Ssa), In Mexico, 20 rare diseases are recognized, such as Hemophilia, spina bifida, cystic fibrosisas well as Turner syndrome, which affects only girls and women and is associated with a chromosomal abnormality, as they do not have or partially have X chromosome.
This situation causes girls to present various physical characteristics of this disease, such as the following:
- Short, winged neck
- Low set ears
- lower jaw retracted
- wide chest
- abundance of moles
- Low height
“Those things that can physically tell us that we need to study more are the ones that the pediatrician or the general practitioner can target to see if the girl has Turner syndrome or not,” he commented on Digital Excelsior the rare disease portfolio medical manager for Pfizer MexicoKenna Pastrana.
The specialist specified that although Turner syndrome is linked to genetics, the condition occurs by chance, so “it doesn’t mean that a mother with the condition will pass the condition on to her daughter.”
Therefore he called upon fathers and mothers of families see a doctor regularly to take care of their daughters as well as to be alert for possible symptoms that could be related to this disease.
CAN TURNER SYNDROME BE PREVENTED?
This was specified by Kenna Pastrana there is no way to prevent this disease; however, today it is possible to know whether a baby still in the womb suffers from it or not.
And this, he explained, can be done through DNA testing, which also helps detect other possible chromosomal abnormalities.
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He pointed out that there is data from ultrasounds that can guide doctors whether or not to do genetic testing; In addition, both the doctors and the family of a minor must be watch for physical symptoms over the years.
“There are girls who have very overt manifestations and others who do not or are very subtle and it depends on the form and the pathology, per se.
“In some cases, all cells have this partial or complete absence of the X chromosome, and in others, only a part, it depends on what clinical manifestations may go unnoticed and they become more apparent as the girl grows or at some point after birth, the diagnosis can be made, which must be genetic,” she explained.
FOR INCLUSION AND SOLIDARITY
When questioned by Digital Excelsior about the lack of inclusion and discrimination of girls with Turner syndrome, as well as other diseases or conditionssuffer in schoolsKenna Pastrana He called on society to come together so as not to leave anyone out of any social circle.
The expert assured that it is necessary to disseminate this type of information in order to create awareness so that both adults and children learn not to discriminate at home and at school.
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“We are a society that is not very educated on many issues and this lack of education causes us to consciously or unconsciously reject many of our boys and girls.
We must admit that sick children, fortunately, are not the majority, so if the common denominator is a healthy child who physically sees himself as the majority sees himself, of course they will have some kind of stigma, but if parents , educators, media, doctors, and all of us coming together as a society, I think we will achieve infinitely more to feel the children and a correspondingly healthier society and spaces for our children and adults,” he said.