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Down syndrome awareness - You asked!

Posted Oct 27 2009 11:03pm
Here are a few questions that have come in on my blog and facebook about Down syndrome (and Kennedy) over the last couple weeks. If you have more, feel free to ask!! Like I tell my kids, there are no dumb questions! These 3 questions also tie in so closely together that I'll probably be repeating myself a lot, so bear with me! :) This post could alternately be titled: A Lesson in Genetics... any geneticists out there, feel free to correct me!

Ok a question for your questions post.. I have always wondered but never asked.
1. Why is it that some children have more facial features of DS than others?

It's really just kind of hit and miss... there are certain physical characteristics that go along with Down syndrome. Many of them involve facial features. However, not all people with Ds are going to get ALL the characteristics. Just like you get some characteristics from your dad and some from your mom, it's hard to know until you're born what characteristics you'll get from which parent. While we're on this topic, let's talk about what those characteristics are! The ones in bold are the ones that Kennedy has!

flattened nose/ no bridge
flat facial profile
upward slanting, almond shaped eyes
excess skin on the back of the neck
shortened, curved pinky finger
singular crease across palms of hand
Small head
Brushfield spots on the iris of the eye
Skin folds of upper eyelid covering inner corner of the eye / epicanthal folds
Wide gap between 1st & 2nd toes / sandal gap
Short stature
Fusion / syndactyly of 2nd and 3rd toes
Small, low-set ears
Small mouth (which is commonly confused for having a large tongue)
Low muscle tone (hypontia)
Increased Flexibility


Put Kennedy next to another kid with Down syndrome and you'll find that they'll have some of the same features, yes, but they likely won't all be the same. I REALLY, REALLY wish Kennedy had the Brushfield spots! HA!

2. Also this may seem silly, I have always wanted to say, Kennedy looks just like all of you.. You can tell shes a Garcia.. However, I never wanted to say anything I guess because it would sounds funny, because of the DS features. Do parents take offense to that, or do they want to hear it like a parents with a child who doesnt have DS hears it..?
We LOVE to hear that!!! Not long after Kennedy was born, we went to a genetics counseling appointment. The point of this appointment, I guess, was to ease our minds that if we were to get pregnant again the chances of us having another child with Down syndrome was slim to none. (This makes me laugh now.) The one thing that really stuck out for me though was that they told me that while Kennedy would have characteristics of a person with Down syndrome, she would also have characteristics of Frank and me and she would look like Kassidy and Kameron, after all, she's from the same mold! I REALLY needed to hear that at that time! I was still grieving over her diagnosis and ALL I saw was "Down syndrome". Over time though as Kennedy grew into her own little person, she definitely became a Garcia and we definitely see Kassidy, Kameron and Keeghan in her (or we see Kennedy in Keeghan I guess! haha) but I love to hear that others see it too!

3. Ok Renee, I hope I'm not sounding too ignorant but if I don't ask a friend, I'll never learn. Why do people with Downs Syndrome look so similar.
Well, this really all goes back to the characteristics I listed above... people with Down syndrome share a set of very specific characteristics. As I said before, not everyone has ALL the characteristics, and there's no way to know who will get which ones, it's kind of hit or miss, but this is what makes people with Ds look similar.

Several years ago on one of my Down syndrome forums, there was someone selling t-shirts (not me, I swear) geared towards people with Ds that said, "They say everyone has a look alike out there, I have thousands!" or something like that... this ticked a lot of parents off because they said that you don't want your child defined by Down syndrome OR its characteristics, and like I said above, people with Ds also look like their families.

However, when we're walking through the mall and we see someone else with Down syndrome, we automatically stop and talk like we've known them forever even though we've never seen them before in our lives... it's like we are part of this little club... and of course the only way we can pick one another out IS because of physical characteristics. (I've used that word A LOT in this post! haha)

For me, I think it's the eyes that draw me in coupled with with the flattened bridge of the nose... that's usually how I pick out someone who has Ds, probably because that's Kennedy's most prominent feature, and I'm just generally drawn to eyes anyway. And these days, some of my favorites come in the almond shaped variety! :)
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