Saturday, June 30, 2012

Sie Center: Day 2

So, second day we met with the nurse practitioner and the physical therapist. They took Daniel's measurements: 12 lbs 15.9 oz, 24 inches long and his head is 15.75 inches around. These measurements put him squarely at the 75th percentile for kids with Down syndrome. (And after his 4 month appointment in July I'll tell you how he compares to typical kids.) The nurse practitioner talked to us about some of the same things as the geneticist, about the different conditions he's at risk for, when we should do testing, etc. She gave us a schedule so we know which tests we should be doing and when. We discussed his eating and sleeping habits and health in general. She gave us a fax number to send results when we do any testing. (Apparently they keep up to date records on all the kids, even if they're only seeing them at the Sie Center once or twice a year.)

After that we met with the physical therapist. This lady is The Expert on motor skill in kids with Down syndrome. She's the author of a book on gross motor skills  and it is obvious that she loves her job. (Incidentally, I ordered that book a while back, so it was extra fun to meet her.) She was impressed by what Daniel is doing so far and excited to hear how motivated he is when it comes to movement. She showed us lots of things we can be doing with him, which we've been working into our daily routine. For instance, typical babies naturally sit up very straight. Babies with Down syndrome tend to slouch. A lot. So she gave us several sitting positions to hold him in that help him work on keeping his back straight while he sits. Also, after we told her that we had a copy of her book she showed us specific sections we could work on with him. Anyway, it was lots of fun.

They also have a speech therapist, who we didn't meet with. It seems obvious that a 3 month old wouldn't need a speech therapist. BUT. They actually recommend kids with Down syndrome start speech therapy at 9 months! Obviously they don't expect him to start talking at 9 months (or even soon after that) but there are different things the therapist can do to help him get ready to talk. They want to be proactive about it, instead of waiting until a kid is 3 years old and still not talking at all. So that's definitely something we'll be discussing with our case manager here.

Last thing on Thursday morning we met with a social worker. She gave us information on the various government benefits Daniel is eligible for (most of which we already knew about.) Good stuff though.

Oh, and one thing I forgot to mention from our meeting with the geneticist. With very rare exceptions, males with Down syndrome are sterile. There have been a few reported cases of men with Down syndrome fathering a child, but it's rare enough to be reported to the experts.

And I believe that concludes my summary. Questions?

Friday, June 29, 2012

The Sie Center: Day 1

Typical visits to the Sie Center are set up so that you first meet with the doctor and team of therapists and then with the geneticist so the geneticist can discuss the doctor's notes with you. However, because we were driving in from out of town, our visit ended up backward. They worked out the appointments so we could drive in Wednesday for the first one and then have the second one first thing Thursday morning and drive home. Anyway, we saw the geneticist first so that's what I'll write about first!

Most of what the geneticist told us we already knew. But it was still nice to hear it "officially." Here's what we discussed:

1) There are three types of Down syndrome.

  • Nondisjunction. Occurs when either the egg or sperm has 2 copies of chromosome 21. When fertilization occurs the extra chromosome causes Down syndrome. This accounts for 95% of all cases of Down syndrome
  • Translocation. Occurs when a part of chromosome 21 breaks off during cell division and becomes attached to another chromosome. This accounts for 3-4% of cases of Down syndrome.
  • Mosaicism. Occurs when the error in cell division happens *after* fertilization. This causes some cells to have a third copy of chromosome 21 while other cells are normal. This accounts for 1-2% of cases of Down syndrome.
Daniel has nondisjunction Down syndrome. We knew based on the karyotype results that it wasn't mosaicism, and we were fairly certain it was nondisjunction but we wanted to hear that for sure. It doesn't matter in terms of his development, but if it were translocation my odds of having another baby with Down syndrome jump to 1 in 10. That would play a HUGE part in our decision to have/not have more kids.

2) In any case, my odds of having another baby with Down syndrome are still raised. Based solely on my age, my risk is about 1 in 1000. Now, because I've had a baby with Down syndrome, my odds are 1 in 100. However, the odds are not higher for my siblings or my children.

3) People with Down syndrome are more likely to develop autoimmune problems including thyroid problems, diabetes, and celiac disease. They are also more likely to develop leukemia, but the chances of that are still low. Vision problems are common (60% of children with Down syndrome) as is hearing loss (75% of children with Ds.) So far Daniel has no problems with any of these things, but we'll be testing regularly. 

4) Physical characteristics are not an indicator of the degree of intellectual disability he'll have.

We spent an hour or so with the geneticist, his assistant, and a resident who was sitting in. They were great. They answered all our questions and were not at all patronizing or condescending (two things I hate.) And there you have it! Next up, our visit with the doctor and therapist.

Thursday, June 28, 2012

Pictures I didn't stage

If you follow me on Twitter, you may have already seen this one. If not, Look! It's Mrs. Nesbitt! Apparently this really *is* what happens when a girl gets ahold of Buzz. (To be fair, Will was just as involved in this tea party as Kalena was. But it was Kalena who actually set him up.)

The other morning I put Daniel on his mat to play (on his back) while I went up to get some laundry. I went in to check on him after I put it in the washer because he wasn't making any noise and this is what I found:

Rolled over to his belly and sound asleep. He slept like that for 30 minutes or so, and probably would have slept longer if Kalena hadn't woken him up.

I was trying to get him to nap this afternoon in the swing (after the crib failed) but he was having none of it. He kept sticking his foot out the side though. It was pretty awesome.

Okay, I know this one is a terrible picture but it's the only one I got. Daniel is reaching and grabbing! Yay for milestones!

And one last picture. Daniel face! 

You're welcome.

Monday, June 25, 2012


As you know, we didn't know Daniel had Down syndrome before he was born. We didn't do any testing, but we did do the 20 week ultrasound and nothing looked out of the ordinary. However, looking back, there was one obvious sign that something was different. His movements.

It took longer for me to feel him move than I expected for a third child. It also took longer to start feeling him regularly. Then once I was feeling him every day, and *I* could sometimes see the movements from the outside, nobody else ever saw them. As many times as I put Brian's hand on my belly, he didn't feel any obvious movements. Daniel never kicked me hard enough that it hurt. He never pushed up into my ribs enough to make me uncomfortable. He didn't ever make those huge, rolling, there's an alien in my belly type movements.

I wondered about all that. I didn't really worry though. I was feeling him often, so I just figured he was mellower or it was different because it was a third pregnancy. Looking back now it's obvious to me that his low muscle tone is what made the difference. I probably wouldn't have thought about it at all if it was my first or second kid. Anyway. Just something I noticed that made sense once he was here. I imagine I'll be hyper aware of this if I'm ever pregnant again.

Saturday, June 23, 2012

10 things about me

We're back from Denver! Okay, we were back on Thursday. The visit to the Sie Center was excellent, and I'll write it up soon (I want to go over the notes first.) So today, 10 things you might not know about me.

1) I'll make assumptions about you based on the books you keep in your house. If you have everything on a reader, I'm gonna need to see that. So I can make assumptions about you. (I find home libraries fascinating.)

2) I don't wear shorts. Capris maybe, but not shorts. Last time I wore shorts was when we were in Hawaii in 2008.

3)  I love shopping for cute shoes. However, I wear the same few pairs of shoes all the time. It took YEARS for me to admit this to myself and stop buying shoes I don't wear.

4) I have a hard time just sitting and watching TV. Even if I'm watching a movie I need to be doing something else. Internet surfing, stitching, scrapbooking, SOMETHING.

5) Typing that last one reminded me of this one: I have old lady hobbies. I cross stitch. I quilt. I make scrapbooks. I bake. I just need to learn how to knit and/or crochet and I'm all set! (I really would like to learn that.)

6) I've never dyed my hair, and I probably never will. There are 2 reasons for this: 1) I really like my natural color and 2) I'm WAY too lazy to keep it maintained.

7) I like the way my toes look pedicured, but I'm SUPER ticklish, so I'm not I huge fan of the actual pedicure process.

8) I am good at baking desserts. I make yummy cookies, cake, pie, and brownies. But I can't bake bread to save my life.

9) I am much more productive when I get up in the morning and put on jeans instead of yoga pants. I guess yoga pants are just too comfortable.

10) Today is our sixth anniversary. We celebrated by going to a matinee. Then Brian went golfing with my dad. We are the most boring people ever.

Monday, June 18, 2012

Sie Center

On Wednesday, Brian and I are taking Daniel up to the Sie Center for Down Syndrome in Denver. We're scheduled to meet with a team of therapists who'll assess Daniel, as well as with a geneticist. I'm not sure he'll be able to tell us more than we already know, but maybe! The Sie Center is specifically for children (up to age 21) with Down syndrome (as you may have gathered from the name.) It's comprehensive care, so it's not just for kids who have medical issues associated with Down syndrome. And apparently it's the only clinic like this in the country. That's what they tell me anyway.

While they aren't going to replace his care here (pediatrician, therapist, etc) it'll be nice to have Daniel evaluated by a team so familiar with Down syndrome. Our pediatrician told us she has about 1000 patients. 2 of them have Down syndrome. Including Daniel. Even his therapist, who only sees kids who are developmentally delayed, only sees 3 kids with Ds. The team at the Sie Center only sees kids with Down syndrome. That's their normal. They're the experts.

Anyway, I'm very interested to see what they have to tell us. And, as always, I'll keep you updated.

Daniel's mostly excited to show off his awesome hair.

Sunday, June 17, 2012

Feeling sappy

Y'all, it melts my heart to see how much Kalena loves this little guy.

Also, when did she get old enough to act goofy for a picture on purpose?!

Thursday, June 14, 2012

No more Mr. Baby

As you probably already know, we have many nicknames for Will. Buster, Buster Brown, Mister Buster, just plain Mister, and the list goes on. My mom though, liked to call him Mister Baby.

While I was pregnant my sister Kari kept insisting that she needed to quit since there would be another baby around soon. But my mom kept saying that Will was always going to be Mister Baby to her. And for a while he was.

Then the other night when I put him to bed I said, "Goodnight Mister Baby." And Will grinned and said, "No, I not baby Daniel!" And that was that. He won't let anyone call him Mister Baby anymore.

And really, he's not a baby anymore.

Don't worry, Daniel wasn't in any danger of falling off the couch here. Will doesn't do the best job of holding him up, he mostly just lets Daniel lay across his lap. (That's Will's "I'm done" face, by the way.) It's a good thing Daniel is around to be the baby now.

Tuesday, June 12, 2012

The life

The kids had their snack outside on the deck this morning. As they ate yogurt and pulled up other chairs to rest their feet, Kalena sighed and said, "This is the life." And then Will (always the imitator) also sighed and said, "Dis da life."

I think they're right.

Monday, June 11, 2012

Always with the pursed lips

I have many, MANY pictures of Daniel where he looks like he's puckered up for a kiss. If you'll recall, Will used to do that too. See:

Will in November 2010
Daniel in May 2012 

Saturday, June 9, 2012

Rolling with it

Daniel rolled from back to front today!

Now, this isn't the first time he's gotten from back to belly. On two other occasions he's flipped himself, and I would have counted that as rolling without his physical therapist's description of the difference. When a baby rolls back to front, he should draw his knees up, twisting at the waist first then twisting his torso and finally rolling the shoulders.

However, a baby with low muscle tone (like Daniel) might not engage the muscles like he ought to. What Daniel was doing before was arching his back WAY far (while laying sort of on his side) and craning his head around as if he were trying to look at the top of his own head. I wish I had a picture of him doing this, but I don't. Anyway, he would end up in sort of a C shape, with his belly way out. From there, a weight shift would cause his whole body to go over. So he ended up on his tummy, but without having used muscles to get there.

When I mentioned to his physical therapist that he had done that she quickly showed us some things to do to help him learn the right way to roll. From then on, anytime he started in on the arching, trying to get over, we would work with him on doing it right. And it worked! YAY! (Only once so far but still. I'm excited.)

He's also been smiling for the last couple weeks. It takes a little effort to get a smile out of him, and I haven't caught a really good one on camera yet, so this one will have to do for now.

Tuesday, June 5, 2012

Wide awake.

Kalena doesn't understand that when people are sleeping you should let them sleep. I think her life motto is: If I'm up, you should be up. It isn't so bad when she's waking up the adults, but she has recently taking to waking her brothers. On purpose. While I think it is adorable that she wants them to be up so she has playmates, it is bad news because these boys need their sleep! She woke Daniel up half an hour into his morning nap today. His morning nap which normally lasts at least 2 hours. I spent the rest of the day trying to get an overtired baby back onto his normal schedule.

Her reason for waking him up? "I just wanted to keep him comfy." That's her four-year-old version of "keep him company." Cute, yes, but maybe let's confine the cute to waking hours from now on, hmm?

Sunday, June 3, 2012


We went to Hogle Zoo this weekend, in Salt Lake. The kids were SO excited to see all the animals.

Will especially loved seeing animals swim. And he was very insistent on wearing his hat.

Daniel slept for most of the day in the Ergo. It was HOT for both of us, but it made it easy to carry him at least. That's a walrus skull I'm standing next to, in case you were wondering.

Brian and Will. Will's hat size says 2T-4T, but it's still a little small for him.

He was SO THRILLED to see that crocodile. He's convinced that every body of water ever contains either crocodiles or sharks. 

Kalena refused to cooperate for most of my pictures, but here's one of her with my dad checking out the giraffes.

And one more of Daniel! His little romper was a hand-me-down from my sister and just right for this outing. (It says "zoo crew" if you can't read it.) 

Kalena loved the whole trip and asked if we could stay forever. She settled for going back some other time.