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! :)
Tuesday, October 6, 2009
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13 comments:
I found one Renee! Maybe you saw this one, it shows where the extra chromosome 21 is attached on Chromosome 14! Weird eh? Now I wanna go home and look at Janice's Karyotype.....
oops forgot the link
http://wpcontent.answers.com/wikipedia/commons/thumb/7/78/Down_syndrome_translocation.png/220px-Down_syndrome_translocation.png
I have heard that from several people concerning my girls, Meghan not as much, but my MIL says it all the time about Kara. Someone said it about Amanda hte other day too, "She must not have a strong case, she does not look like she has Down syndrome"....
Can you email me, or send me a FB message, I need to ask you a favor RE adoption related.
I think people say that because they probably have a preconceived notion of what a person w/ Ds looks like or acts like and our kids don't fit their mold. Or, they're trying to make us feel better. I've had to correct a few misconceptions here and there, too.
I know that people mean a particular child doesn't LOOK like he/she has DS, but it is an odd statement. That ranks right up there with the nurse that told us that, and then asked if we got a second opinion. A NURSE. There is no second opinion on a blood test.
I think you said that very well!
Bridget
Yep..we've heard that too. People have said, "she really doesn't look like she has Ds very bad" We even had a doctor tell us that before. I think it really does boil down to the fact that most people know nothing about Down syndrome. Honestly, why would they if they do not have anyone close to them who has Down syndrome.
I didn't have the AFP test done. I had too many friends who had false positive results. I did have an ultra sound that showed no soft markers and no heart issues. I often wonder who on earth read that report. Carlys heart issues were so severe.
Renee,
I have heard this as well from different people. I was actually going to FB about it today. I might steal some of your wording....great job!! I think that Ds awareness is very important because you are trying to spread AWARENESS! I think people just don't know the difference. I think you do a GREAT job informing them without making them feel dumb or stupid. I know for me, if I feel like someone is making me feel that way, I tend to back off and not talk anymore. I don't wont people to feel uncomfortable with me or Mara, just informed.
Thanks Renee! Please give those kids hugs and kisses from me.
Lisa
I don't know what TYPE my son has but it does really matter to know something you can't change? for me i really don't care to know what type he has i just love him the way he is...
J.A
Chris once said Aiden had a "little bit of Down syndrome." I looked at him and said, "Nope, he's got a whole lot of it. It's in EVERY cell in his body."
Very informative. I had a course at APSU on "teaching
exceptional children" & there was very little given on the different types of DS. Very few DS children were mainstreamed back then.
Beckie
Mosaic down syndrome can be diagnosed even before the birth of the child through Chronic Villus Sampling (CVS). Even after the birth of the baby, genetic testing can be performed which helps determine the number of chromosomes present in the cell.
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