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A "little bit" of Down syndrome

Posted Oct 06 2009 10:03pm
Obviously, I've been addressing many of the common misconceptions associated with Down syndrome the last couple days. I plan to continue throughout the month... Hopefully by the end I can cover the good, the bad and the ugly of it. Here is one that always makes me laugh, someone once looked at Kennedy and said, "Oh she's so cute! She's just a little bit Downs."

Umm... WHAT?! LOL Down syndrome is very definitive. You either have it or you don't. Just like you can't be a "little bit pregnant", you can't have "a little bit of Down syndrome."

There ARE three different TYPES of Down syndrome.
1. Non-disjunction Down syndrome (Trisomy 21) occurs in 95% of all babies born with Down syndrome. Like the karyotype posted below, it is basically an extra copy of the 21st chromosome, affecting every cell in the body. This is what Kennedy has.

2. Mosaic Down syndrome occurs in 2% of all babies born with Ds. This is when not every cell contains the extra chromosome. Some do, some don't. There is no rhyme or reason. Studies show that kids with Mosaic Ds may not have all the physical characteristics that a person with Non-disjunction Ds does, but every person is different, that includes every person with Ds. Just because a child has Mosaic Down syndrome, it does not mean he/she is immune to the issues associated with Ds. (Another somewhat common misconception.)

3. Translocation Down syndrome occurs in 3-5% of all babies born with Ds. This is when all or part of the 21st chromosome is translocated to another chromosome. I was trying to find a Karytotype of this for you to see, but I'm not finding a good one. Basically a piece of the 21st chromosome is connected onto another chromosome, like the 14th chromosome. This can be an inherited type of Down syndrome, coming from one of the parents, but this is not always the case.

In any of these cases, you cannot have a "little bit of Down syndrome". Down syndrome affects individuals in different ways. Some people may have higher cognitive functioning but struggle with gross motor skills or writing. Others may excel at sports, but struggle with speech or reading. Children with Down syndrome, just like typical kids, are individuals. They have their own strengths and weaknesses and you can't define them by their disability. If you have a baby with Down syndrome, he/she will let you know who they are and what they are capable of in their own time. Cherish every moment and rejoice in every milestone. Each one will be sweeter than the last! :)
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