Down syndrome
It is a genetic alteration produced by the presence of an extra chromosome (whole or a part of it) in the chromosome pair 21. Therefore, the cells of these people have 47 chromosomes with three chromosomes in said pair (hence the name of trisomy 21), when usually there are only two. The reason for this genetic anomaly is not known.
Although it does not occur in all cases, many children with Down syndrome have associated pathologies. It treats health complications related to its genetic alteration: congenital heart disease, pulmonary hypertension, hearing or visual problems, intestinal, neurological, endocrine abnormalities, etc. These situations require specific care and above all adequate follow-up from birth.
What is trisomy 21 or Down syndrome?
trisomy 21 - down syndrome Trisomy 21 or Down syndrome is an alteration characterized by the presence of a third copy (partial or total) of chromosome 21.
People affected by this chromosomal disorder have mild to moderate intellectual disability, as well as certain complications and malformations, including heart defects, digestive malformations, congenital cataracts, short stature, Hirschsprung's disease, West syndrome, seizures, leukemia. , sleep apnea, sensory deficiencies, autoimmune and endocrine pathologies (hypothyroidism, gluten intolerance, diabetes, alopecia), premature aging and Alzheimer's disease.
Psychological characteristics in trisomy 21
In order to support family members to cope with this difficult situation, a multidisciplinary team (psychologists, geneticists, obstetricians) is supported to determine the risks in future pregnancies and avoid psychological consequences in parents and other relatives. Normally there are depressions on the mother's side, and in most cases they believe they are responsible for such unpleasant news.
For couples who have already had a child with Down syndrome due to trisomy 21 due to translocation, it could mean a serious risk of recidivism of trisomy 21 in future pregnancies.
3% of cases of trisomy 21 due to translocation are due to the fact that the father is the carrier, whereas if the mother is, it would be 12%. This data usually generates many problems and psychological burdens on the parents, so it is recommended to have constant support from a psychologist.
It is important that parents who have children with trisomy 21 by translocation have the guidance of geneticists to determine their risk of recidivism. There is no known behavioral or environmental cause for trisomy 21.
It is important to know that the psychological burden of trisomy 21 falls primarily on the parents of the patient with Down syndrome, so we must always give encouragement and support, if possible specialized by psychologists, geneticists and doctors.
It must be said that although any trisomy is a terrible news, those affected by trisomy 21 will be the ones who, for the most part, will be able to have a "normal" life within a society that, little by little, adapts to the needs of These people who have had to live a hard disease.
They are very intelligent despite ...
But despite all this we have already mentioned, it should be noted that they are very intelligent in their long or short journey.
In terms of intellectual capacity, they usually have a mild to moderate mental retardation. But each case is different, there are people with Down syndrome who have even achieved a university degree.
Many reasons why celebrate with a special child and why fill them with love
UNCONDITIONAL LOVE. Daily deliveries without qualms.
INSPIRATION. They inspire me to give my best to keep going for them and for them.
JOY The pure and unique joy that motherhood gives us.
HOPE They have taught me to believe in the power of love.
FAITH With their love they give me the faith I need to keep going even in the most difficult moments
ENTHUSIASM. I have been taught to live with that strength in my heart that makes us feel excited to take the next step.
DETERMINATION. With each new achievement they teach me the power to love.
PATIENCE. To walk slowly understanding that sooner does not mean better.
DREAMS They have taught me to dream new dreams, just as magical.
DILIGENCE. We have learned together to make those dreams come true.
ADDRESS. They have given my life a mission to wake up every day and feel that I have a purpose.
FORCE To always try one more time until we find the way.
GREATNESS To get the most out of their abilities instead of living forever bemoaning their limitations.
GRATITUDE. To enjoy every little step without taking anything for granted until you have tried.
SENSITIVITY. To learn to feel more and think less. Listen to the heart and put aside the limits that the brain places on us.
PERSPECTIVE. I have been taught to see life from a totally different angle.
SUCCESS They remind me that we have to compete less and enjoy ourselves more.
STRENGTH. We have become gerreros in search of positive changes and opportunities.
PASSION. To teach others to believe that the impossible is possible thanks to love.
INSPIRATION. They always break their own limits and inspire me to do the same.
