Thursday, February 28, 2013

Down Syndrome


Down Syndrome, or medically referred to as Trisomy 21, is a genetic condition that affects some 0.1% of the Philippine population, one of the most common birth anomalies.  Usually, a person inherits 23 chromosomes from the father and another 23 from the mother (a total of 46), but in some cases, the 21st tandem carries an extra chromosome.  This brings the total chromosome count up to 47.  Children with Down syndrome have very recognizable facial and body features such as upward slanting eyes, small ears, small mouth, single crease in the palm of the hand, wide short hands with short fingers and decreased muscle tone.  DS children also have delayed mental and emotional development and can also throw temper tantrums.  But if you treat them right, DS kids are totally malambing!


*genetic karyotype from Wikipedia, notice that there are 3 chromosomes in the 21st pair

Pipay (Andi's nickname) has Down Syndrome, and while she is already 11 years old, she is our forever-baby.  At dawn, her usual routine is to come close and cuddle up close to either myself or Vicky, and it seems that whenever she grabs my arms to put around her, she recognizes the most important part of living--being loved as part of a family.  She is practically deaf, and can't talk.  She plays with her saliva all day.  She'd pull the hair of her classmates and give off her silly laugh.  Her thyroid under performs, so she's still the size of a 2 year old kid.  She can get cranky at a whim.  She'll never read or write.  But most important, she crawls up to me and Vicky each morning, and demands that we place our arms around her.  She completes our family.

When Pipsie was born, we wept and asked "How Come? Why?"  Kong Kong immediately told me that we just have to love her more, and with that, came acceptance.  To medical science, geneticists and statisticians, it's called a birth anomaly.  To me, it's a regular part of my family, no cause for alarm, no big deal.

I just wanted you to be aware of that.


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