What Causes Down Syndrome?

When I first had my son, I had no idea he was going to have Down Syndrome, and I had no idea what caused it.  I knew some about it, as I had a friend with a sister who had Down Syndrome.  So, my first question was, “Did I do something wrong?”  One person even told some of my family that I must have been doing drugs.  It’s funny to me that they were so uneducated about it, that they could not take the 10 minutes to get online and just do a quick search.  You will quickly find that there is nothing that the mother could have or could not have done.

So again, this is just for education purposes and to have a quick reference guide for me to have in one place.  My son has Trisomy 21, so that is what I have learned the most about.  I know little about the other forms, but this is what I came up with:

  • Our cells normally contain 23 pairs of chromosomes.  Our parents each give us one of each chromosome to make up the 23 pairs.
  • Down Syndrome results when abnormal cell division involving Chromosome 21 happens.  There are 3 types of abnormal cell division.
  1. Trisomy 21 – Most Down Syndrome is caused by Trisomy 21.  The cell division here happened during the development of the sperm cell or the egg cell.
  2. Mosaic Down Syndrome – This form of Down Syndrome is more rare.  It’s caused by abnormal cell division after fertilization.  That means not all cells have the extra copy of Chromosome 21.
  3. Translocation Down Syndrome – This happens when Chromosome 21 is translocated to another chromosome.  It can happen before or at conception.  There is also the additional material from Chromosome 21 attached to the translocated chromosome.  This form  is very uncommon and the only form that can be passed from parent to child.

Again, my disclaimer is that I know very little about Mosaic and Translocation Down Syndrome, but it all boils down to the fact that it is abnormal cell division, not something that someone did to cause it.

Physical Characteristics of DS

I know that if you already have a child with Down Syndrome, a lot of this is not new to you. But what I come across is a lot of people that are not educated on what things are caused by that extra little chromosome. This way, there is a list right here that they can check out.  I will eventually get all of the characteristics on here, but this is the easiest to start with, as this is usually the first signs of Down Syndrome if it was not known previously.

  • Small skin folds on the inner corner of the eyes
  • Flat facial features, with a small nose
  • Upward slant to the eyes
  • Small, abnormally shaped ears
  • Enlarged tongue that tends to stick out
  • Low muscle tone
  • Hyperflexibility
  • Single deep crease across the center of the palm
  • Fifth finger has only one flexion furrow instead of two
  • Extra space between the big toe and the second toe

Rainy Day

It is days like yesterday that make me see just how much we get out of our son, Damon. We had a thunderstorm, not a bad one-just lots of rain, and so we decided it was a perfect day for a BBQ. We load the grill, tables, chairs, and all the food into the garage. Our neighbors came with their kids and we just had a blast.

Damon of course saw the big kids playing in the rain. At first he would go in the rain and run right back to the garage for cover. As he decided it wasn’t so bad, he would venture out for longer. THEN the water started pouring out of the gutters and he had his own puddle and a stream of water to put his head under. He was soaked from head to toe with not one dry spot.

It’s days like that when I sit and just watch him and see the light he has put into our family. Our neighbors, who happen to be great friends, understand Damon more than family we have known for years. The kids all were filthy dirty, but they turned a rainy day into a day filled with fun and good times. I could sit and watch them play and laugh like that all day long.

Life can pass us by so fast and we miss all the little things. So nice once in awhile to get a reminder of the little things, like a rainy day, that we should not just let pass us by, instead get out there and play in the rain!

The “R” Word

I’m new to this, but want to start a place that I can talk freely about the adventures I face raising a child that happens to have Down Syndrome.  The thing that brings me to want to do this more anonymously is that I don’t mean to offend, and I feel like the only parents to truly understand what I am saying is others that have a child with some disability or another.

My most recent realization that my son is “not like you” or “different” is when we just had some family come for a visit.  They had no clue how to respond to our son or his “fits”. The kids teased him because of how he talks, more like jabbers, and got very frustrated when he wanted to be around them.  Parents and children alike used the word “retard” or “retarded” more than 20 times within 2 days.  I did actually try to keep count, but could not keep up.  They use it as an adjective to describe almost anything you can think of and even refer to a family member as the “retarded kid”.

Now, myself, I am just dumbfounded that they do not understand that my son is a person and he has feelings.  He may not understand today what they were saying, but someday he will.  He will know that they are making fun of him.  I am a very passive person and tend to not say anything (again, the reason I am doing it here) and then it just ends up making me mad, but I don’t really know how else to respond.

I want to know what other parents think, how they deal with situations like this, and how the children react.  Problem is the parents that are around me have “normal” kids, they don’t live this life every day.  They know my son and they say what “they would do”, but they don’t really have to see it and deal with it.  

I want to know what people really think about the “r” word and see if others feel the same as I do.  How do you deal with it?