This month we raise awareness as to what it means to have Down syndrome and how people play a vital role in our lives and communities. You can be an advocate whether you know someone with Down syndrome or not. When children with Down syndrome (and other disabilities) are given opportunities to participate, all children benefit, creating acceptance and amazing friendships and respect for everyone.
My Daughter Has Down Syndrome. Down Syndrome Does NOT Define Her.
Meet Leilani. Leilani is five years old. She has two younger brothers. She is spunky. She is sassy. She is funny! She is emotional. She is helpful. She will yell, “HI!” the second you walk through our door and grab your hand and walk you straight to her toy room to play with you. She also happens to have Down syndrome. And you know what’s crazy? We didn’t find out until a week before her FIRST BIRTHDAY! You may be sitting there thinking, “So?” But I will tell you right now, that is NOT common. I have yet to meet anyone that has gotten a late diagnosis like us.
What IS Down Syndrome?
In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.
This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.
*From the National Down Syndrome Society’s website
Are There Different Kinds of Down Syndrome?
YES! There are actually three different kinds. Trisomy 21, which is the most common and what Leilani has, is usually caused by an error in cell division called nondisjunction. This results in three copies of chromosome 21 instead of the usual two. Mosaic Down syndrome is diagnosed when only SOME of the cells have three copies of chromosome 21. This is what Leilani’s doctor thought could be what she had because she was such a “mild case” who happened to hit all of her milestones. And then there is Translocation, which counts for a very small percentage of cases.
How Down Syndrome is Typically Diagnosed
Prenatally – testing is done when the mother is pregnant. There are two categories of tests for Down syndrome that can be done before the baby is born: screening tests and diagnostic tests. Prenatal screens estimate the chance of the baby having Down syndrome. This only provides probability, which is why I chose not to have the test done when I was pregnant with Leilani as it didn’t matter what the test said to us. Diagnostic tests can provide a definitive diagnosis with almost 100% accuracy.
At birth – Down syndrome is usually identified at birth by the presence of certain physical traits. Things like: low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and/or an upward slant to the eyes. If these are present in a baby, a chromosomal analysis is usually done to confirm a diagnosis.
Raising Awareness and Acceptance
I end with this because this is very important to me. There are people that will be mean to my child and call her names because of her “disability” (whether to her/our face or not). I use quotes because she isn’t letting her disability stop her from anything, so you shouldn’t either. For the sake of our future, please do some research around Down syndrome. There are mild cases, and there are severe cases. Either way, it doesn’t define who they are as a person. They are still people, just like you and me, and they have feelings too. Please teach your children to be compassionate and respectful to others, whether they have a disability or not. It starts somewhere, and you have an amazing opportunity as a parent to teach love and compassion. Children don’t treat others differently until they are taught to do so.