Daniel update

Did I tell you Daniel's therapist is coming every two weeks now instead of once a month? Well she is, and she was here on Thursday. She's impressed with the progress he's made although, I think part of what she thinks was progress was really just that he was super tired last time she was here. I mean, he is definitely making progress, but he was not up to par at his first July appointment. Also, his caseworker okayed speech therapy starting at 9 months.

He rolls from front to back easily and often. The day before his appointment he started pulling his knees up under himself which is great (one step in a series of steps that lead to crawling.) And, he's rolled front to back! One time. In his crib, so soft surface probably made it easier.

He now naps with no swaddle and on his belly, but we still swaddle him to sleep at night. He's pretty vocal, and likes to "talk" to himself when he first wakes up in the morning. He smiles often, but he'll only laugh for Brian. And I think that's all that's new with Daniel these days.

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?

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.

Hindsight

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.

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.

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.

Occupational therapy begins

Well, we had our first occupational therapy session last Thursday. The short version goes like this: I like the therapist and I have a lot to learn.

I'm not sure what exactly I expected the therapist to do. I mean, he's a baby. He's still working on head control. He doesn't really DO much, you know? But she had plenty to tell us and show us and have us work on.

I'm not sure if I mentioned this, but we got a copy of Daniel's early intervention evaluation and they classified him as having "mild low muscle tone." Low muscle tone is expected in babies with Down syndrome so it's good news that it's only mild. However, having low muscle tone means we have to make sure Daniel doesn't get into bad habits. The therapist showed me some things to do to help him learn to roll over properly. Things to help him learn head control. Things to help with low muscle tone in his torso. She pointed out that he holds his right hand in a tighter fist than his left and asked us to watch and see if that's always true. She pointed out that he was moving his limbs asymmetrically, and pointed out some reflex movements he was making, both good signs. None of this is stuff I would have noticed on my own. None of this is stuff I would have to worry about with a typical infant.

Anyway. The plan is for her to come once a month for now, and more often when he starts being more active. I'll keep you updated, of course.

Here he is working on his head control.

And that onesie has a crab on the butt!

Now we can say he's got his crabby pants on.

Third Child thoughts

There are so, SO many reasons I'm glad that Daniel is our third child. That means you get some bullet points today!

• Since we already have a girl and a boy, it should be obvious that we had Daniel because we wanted a third child, not because we were trying for one or the other. I always think the assumption that someone with 2 boys would have a third to try for a girl (or vice versa) is annoying, but in our case I think people might feel sorry for us if they thought the reason we had a third was to try for a specific sex. (Side note: I don't mean that *people* who have a third for that reason annoy me. Just the *assuming* by others.)
• Breastfeeding. I struggled a lot to breastfeed Kalena (and quit after just a few months.) But I learned a lot, so nursing Will was much easier. Since babies with Down syndrome often struggle to breastfeed, I'm certain that my knowing what I'm doing is the only reason we've managed at all. (He's still getting supplemented after pretty much every feeding, just for the record.) If he were my first child I'm pretty sure it would not have happened at all.
• Milestones. Having two children already means I am familiar with the reality that every child hits milestones at his own pace. (Even the differences between two typically developing kids can be huge!) This has made it very easy to accept the fact that Daniel will hit milestones at his own pace. Whether his pace is close to typical or not is something we'll find out as we go.
• Right now Daniel is very much like any other baby. However, he sleeps. He never went through that whole "days and nights mixed up" phase. In fact, for the past several nights he's slept through the night (by which I mean no wake-ups between like 11 pm and 5 am. Usually from 7ish to 5 am. I KNOW.) Since he's my third, I appreciate how much sleep I'm actually getting! And how not normal it is to get so much!
• I'm already comfortable being a mom. I know how to care for an infant. I know what to expect. Going from not being a parent to being a parent was a HUGE adjustment. Adjusting to also being a parent to a baby with Down syndrome is (for me) relatively minor.
• Last but not least, his siblings. Brian and I have often commented that we got lucky with two great kids. (And I know, everyone thinks their own kids are great, but hear me out.) After Daniel was born we both felt like we got these two great kids to be siblings for Daniel. I'm sure that Daniel will benefit from having them as siblings just as much as they will benefit from him.

And there you have it. This sweet guy knew just when to get here.

 

Information overload

Down syndrome is the most common chromosomal abnormality, occurring once in every 690 live births. This means lots of available information and resources. Before we even left the hospital we had been referred to Mile High Down Syndrome Association, referred to a pediatric audiologist, and set up with an early intervention coordinator. At Daniel's first pediatrician's appointment we got a referral for a pediatric ophthalmologist along with a list of common health concerns and a timetable for testing for them.

MHDSA has been GREAT. We got a call from their family outreach coordinator just a few days after we were referred. She offered us their welcome package, to put us on a mailing list, to put us on an e-mail list, and a "first call" contact in my area. (Yes, yes and yes please!) I've already read the information book from the welcome package. 

See, I'm sort of an information junkie. I read. I research. The engineer in me wants numbers and data and statistics. And the mother in me wants to hear everyone else's stories about what it's like to raise a child with Down syndrome.

Anyway, there's a point to all this. For those of you who have contacts for me or other info, I want it, I do. But I'm a little overwhelmed with all the info I'm currently making my way through, especially since it turns out I also have a newborn. (Crazy, right?) So hang on to the phone numbers and e-mails addresses and such for me. I'm sure I'll be asking for them soon enough.



P.S. The love and support from everyone, both in real life and online, has been amazing. You guys are the best.

Test time

Daniel had his oxygen test on Friday. Here he is hooked up to the saturation monitor:

See that 96 on there? That's his saturation percent (and that's good, if you're wondering.) So HOPEFULLY when the pediatrician calls it will be to tell me to we're done with the oxygen. 

By the way, have I ever mentioned here how much I LOVE our pediatrician? Well, I love her. A LOT. We got put with her by default when we moved here-- she was the only doctor in the practice taking new patients. She's been great with Will and Kalena, but since Daniel was born she's been even better. She hasn't been able to see him yet (she was on vacation so we saw the pediatrician who diagnosed Daniel when he was born (we like him too)) so she's called me twice to check on him (and me.) She called me herself, how great is that? Seriously, we can't ever move because I'll never find a pediatrician who measures up.

Moving on. How about a picture of a baby with a monkey on his butt?

I knew you'd like that.

Early intervention

We had our first visit with early intervention therapists yesterday. Because delays are expected in children with Down syndrome, an early intervention evaluation is done as soon as possible. While it's nice that this all gets started now, it's a little bizarre to do goal setting for a one month old. Really I suppose it's more for me. The goals are things the therapist wants Daniel to be doing in a month, but mostly we talked about ways I can encourage him to do those things.

Anyway, I'm mostly writing this so that in a month when I start talking about seeing the physical therapist you won't be all, "Wait, what?"

He is STILL on oxygen which is obnoxious because the pediatrician okayed a test a week ago. Apparently there was a miscommunication though, because when Brian talked to the oxygen company today they said they had nothing from our pediatrician's office. And then when he talked to the pediatrician's office they said they had sent over everything the oxygen company would need. They're sending it again now, but UGH. I am ready to be done with the tether.

More thoughts

After some excellent comments on my last post, I wanted to clarify something- I most certainly understand why people do testing, even if they wouldn't terminate the pregnancy. Testing gives you more time to process. It give you time to prepare, mentally and emotionally. There's definitely nothing wrong with wanting to know ahead of time. In fact, before Daniel was born I wondered if people who were surprised by babies with Down syndrome (or some other diagnosis) wished they had done the tests.

I was serious when I said that I'd thought about it a lot. I considered how things would have been different if we'd known before he was born. I thought about how I might have felt about a prenatal diagnosis (obviously I thought about that, since that's what I wrote about last time.) And it's only now, on the other side of things, that I'm completely sure not testing was the right choice for us.

And now I'll stop talking about this.

My thoughts on prenatal testing

If you've read my Finding Out post, you know that Daniel's diagnosis was a surprise. We opted not to do prenatal testing (for any of my pregnancies) for a couple big reasons.

First: I am young. At 29 my chances of having a baby with Down syndrome were roughly 1 in 1000. I have no risk factors. The risk of miscarriage caused by the more invasive testing were considerably higher than my risk of having a baby with Down syndrome (or any other chromosomal abnormality) was. The odds were in our favor, so why do the testing?

Second: This is probably a bigger reason than the first- we wouldn't have terminated the pregnancy.

So the question a couple people have asked since he was born is: Do I wish I had done prenatal testing so that I could have prepared for this? And having had a chance to think about it (a lot) my answer is no. If we had gotten this diagnosis before he was born I would have wondered about false positives. I would have worried about when to tell people. I don't know that it would have felt real.

Getting the diagnosis after he was born was certainly a lot to take in. But Brian and I both manage pretty well with changes that come our way. I think if we had gotten the diagnosis before he was born, that's all I would have thought about. Once Daniel was here though, HE was what mattered. Yes, he has Down syndrome. He also has a lot of hair, and big feet, and blue eyes. He is soft and tiny, just like our other babies were. Daniel is a baby, not a diagnosis, and I thinking getting a prenatal diagnosis would have made that harder for me to see.

So no, I wouldn't have done things differently. Besides, now that he's here it's impossible to imagine not wanting him, not having him, not loving him.

Finding out

Immediately after Daniel was born they placed him on my chest, and I felt thrilled. Baby number 3 was here, and it had been SO much easier than getting our other babies here. Then he opened his eyes, just for a second, and worry flickered through me. I hoped that I was wrong, that it was the way he only half opened them, or that I was seeing something that wasn't really there. After all, nobody else seemed concerned and with his eyes closed he looked just like Will did as a newborn.

But when everyone else had gone and Brian and I were alone with one of the nurses, she asked us if Daniel looked like our other kids. Brian assured her that he did, which is true. But I knew then what she was going to tell us, and I was right. She said that Daniel had some characteristics that indicated Down Syndrome. To say that I felt overwhelmed when she told us this is an understatement. She assured us that the pediatrician would check him out and that chromosome testing would be done to confirm, but I knew. I knew the diagnosis was right.

I cried then. I cried because I was scared. I still am scared. I feel unprepared for life with a child with Down Syndrome. I feel overwhelmed with the responsibility of being a mother to this sweet boy. I feel overwhelmed in a way I never felt with Kalena or Will. What I don't feel is disappointed. I feel incredibly blessed to have Daniel, and I feel certain that he is meant for our family.

I hope this overwhelmed feeling will fade soon. For now I'll just enjoy the moments where I feel so much love for him that my heart might burst. Lucky for me those moments come often.

Daniel

"There are far, far better things ahead than any we leave behind." ~C. S. Lewis

Shortly after delivery we were given a diagnosis which was confirmed by chromosome testing yesterday afternoon: Daniel has Down Syndrome.

He is currently in the NICU, but we're hoping to have our sweet baby boy home with us as soon as possible.