Archive | January, 2014

What caused Rosalie’s Down syndrome

26 Jan

Sometimes, don’t you wish you could just go back in time? Do you replay a conversation over and over in your head & think about what you WISH you would have said? That has been me lately.
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I wanted to use this blog to raise awareness of Down syndrome and I have not done that at all really. An encounter I had recently inspired me to get back into it because a lot of folks still have a lot to learn. And the more people learn, the better life will be for my sweet girl & her awesome friends.20140126-214031.jpg

The conversation I had recently went something like this:

Other person: “So did they ever determine what caused ‘IT’ in Rosalie? The Down syndrome? Like, was it you or Will? Or something you did? Or is it in your family?”

Me: I could just feel my blood pressure rising as I tried to kindly answer, “No, Down syndrome is…”

Other person: “Because so-and-so has two people in their family….well, they aren’t “Down syndrome” but they are “something else…” [Just a note- NO ONE “is Down syndrome.” They HAVE Down syndrome. Down syndrome isn’t what or who Rosalie is. SHE IS ROSALIE & SHE IS A PERFECT HUMAN BEING.]
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Me: Trying to calm the voice in my head that is screaming at this person, I tried to get a word in before they could say anything else….”No, Down syndrome is a completely random occurrence. It’s not inherited and it has nothing to do with anything Will or I did.”

I don’t even remember what was said after that. I know they did not mean any harm at all. Sometimes people just don’t know what to say & I was once that person (I still am in other situations). But I just wanted to get out of there before this person said anything else to make me feel like I possibly could be responsible for my child being born with Down syndrome. I’m not going down that road.

What I wish I would have said…..

“It’s a completely random occurrence & WE HIT THE JACKPOT!!!!!” There is not a single thing I would change about this child. Who cares WHY or HOW Rosalie has Down syndrome? The fact is, she has it, & it’s not going away, but it’s only a part of who she is.

That reminds me of another question I was asked recently by someone I met. When I told the person that Rosalie had Down syndrome, he did not know what it was so I tried to explain it to him. He looked at me, so concerned, and asked, “but she’ll grow out of it, right?” I thought he might cry when I told him that extra chromosome wasn’t going anywhere. It is definitely nothing to cry about! It’s not bringing Rosalie down, that’s for sure!

But back to what causes Down syndrome. According to the National Down Syndrome Society (ndss.org),
“Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.” There is no hereditary component in Trisomy 21.

It’s just how God knitted her in my womb. He has big plans for her & I believe He is already using her for great things. She has certainly changed my life.
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There are also two other much less common types of Down syndrome, mosaicism & translocation. In one-third of cases resulting from translocation, there is a hereditary component.

To learn more, the National Down Syndrome Society has some great info.

A great post over at Noah’s Dad: http://noahsdad.com/did-i-cause-down-syndrome/

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Rosalie, the one year old

26 Jan

20140126-102207.jpgI feel awful that I have not updated in several months, but I have just been busy living life, taking care of two precious little girls, enjoying the holidays, moving, and trying to keep up with all of Rosalie’s different appointments.

Rosalie is doing great right now. She was officially diagnosed with severe chronic neutropenia & placed on the Severe Chronic Neutropenia International Registry. The registry is for research purposes & the great part is that they provide Rosalie’s medication for free. She gets a neupogen shot everyday. Learning to give her a shot was absolutely awful, I truly hated it & did not think I would be able to do it. But she & I finally got used to it & now it is not a big deal, thank goodness!

The great news from her visit to the doctor in Michigan was that her transient hypogammaglobulinemia has resolved itself. That was a huge blessing. So she has not had an IVIG treatment since July & she is finally getting her vaccines.

She will see a GI doctor at Shands next week for some continued tummy issues she has had since she was a month old. And in February she will see an orthopedist at Shands for a leg length discrepancy.

Right now she is fighting a really really nasty cold or something. She has been running a fever since Friday morning & putting the Nose Frida to good use. We planned a little birthday party for her yesterday & we had to cancel it because she was feeling so bad. It was so disappointing.

Rosalie brightens our world every single day. She is just so sweet & beautiful. We absolutely cannot imagine our lives without her!!

20140126-101413.jpgRosalie on her first birthday- she likes loves cupcakes!!!

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20140126-102120.jpgChristmas Day