Down Syndrome is often associated with the unique facial features and intellectual disability. These are both part of the condition, though that is not all DS means.
First, let's get the technical stuff out of the way. There are 3 types of Down Syndrome; Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Trisomy 21 is what Alexi has, and is what causes DS in 95% of effected people. Trisomy 21 is a genetic condition causing each cell to have an extra copy of chromosome 21, creating 3 instead of the typical 2. Thus the name Trisomy 21. This is also where we get our name, Designer Genes, as Alexi's genetic makeup is designed a bit different.
Right from birth we knew our daughter looked like others with DS. What we soon discovered was, she actually looked more like the two of us than just fitting a mold of DS features. She has her mothers nose, my mouth, her mothers hands, and unfortunately for her, she may have my head. She does have two almond shaped eyes that make DS a little easier to spot, but those beautiful eyes are blue. Go figure, with a blonde hair blued eyed dad, and a blonde hair blue eyed mom, she came out blonde and blue.
Down Syndrome has some other physical characteristics that may be less known. One of these characteristics is low muscle tone. This is part of what makes development a little slower for these kids. Lacking the muscle tone makes every movement and every bit of coordination a little bit harder to master. Our Alexi was premature, which also causes low tone in babies. We can't say for sure how much of her tonal issues come from prematurity, and how much comes from DS, but it makes no difference really. Alexi has definitely had a tough time with coordination and strengthening, especially in her core. She knows life no other way, so it's all just typical for her, and she hasn't had a complaint yet.
Another physical characteristic that is less known would have to be the oral cavity. Alexi, and those like her, were born with a smaller oral cavity. Her whole mouth inside is a little bit undersized. This makes speech development and even just keeping the tongue inside the mouth difficult. Have you ever noticed that people with DS have a hard time talking? Ever notice that their tongue may be sticking out of their mouth a lot? Now you know why. With early intervention programs this is one thing we are seeing first hand, can be overcome with therapy. Alexi's Occupational Therapist gave us some simple oral exercises to do before each feeding, that are dramatically changing the shape of her pallet. At 5 months, Alexi is able to keep her tongue in her mouth and is even showing beginning signs of healthy speech development.
Some of the toughest physical characteristics that are common with DS are ones that we have not had to deal with. There are many health concerns including heart and intestinal problems that can be detected soon after birth. Alexi passed all of her tests with flying colors. There are increased risk of thyroid problems, Alzheimers, and other conditions which it is far to early to detect in Alexi, but we are ready for whatever may come our way.
Lastly I bring up the intellectual disability. DS is probably most associated with this aspect of the condition. Although it is a key characteristic, I believe that people may not understand that it is not as severe as they assume. The clinical description of the intellectual disability considers it mild to moderate. People with DS may come across difficult to understand in such a way that makes them seem to have a slower intellect than they really do. Remember the oral cavity? Having a reduced pallet makes speech much more difficult, as their tongue seems giant in their mouth. This makes the speech sound less intelligent (and possibly a bit lazier) than what is really being said. Ever watch a kid with down syndrome play? They seem a bit less intelligent because their coordination may be off. But remember, they have had a physical disability since birth that causes their coordination development to be much more challenging. This is a result of the tonal issues they deal with. These issues can also be helped with physical therapy, which Alexi will begin as soon as she's old enough.
I'm definitely not saying that people with DS aren't a bit slower to learn. They typically are. In fact, without early intervention, children in the first years of life can take twice as long as typical children to reach their milestones. Down Syndrome causes mild to moderate intellectual disability. That, combined with a few physical disabilities that make things more challenging for them, just seem to make things appear more severe. At least they did to me. Hey, maybe you already knew all of this? Maybe I was the only one mislead by labored speech and a bit less coordination? Just in case I wasn't the only one "slower to learn" this stuff, I figured I'd share what Alexi has taught me along the way. I have so much more to learn, but couldn't have a better teacher.
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