Compared

Today’s fact: Although there are some physical features common among people with Down syndrome, genetics still plays a big role in how people with Down syndrome look. They will resemble family members more than other people with Down syndrome.

We took a little weekend trip to Denver this weekend. It’s been planned for a while, we were going up for the wedding of a friend of my dad and Brian. We figured we’d take the kids to the aquarium while we were there, and just enjoy the weekend. Then, at the last minute, my sisters (who both live about 2 hours away) decided they’d drive down on Saturday and join us for some aquarium fun!

But this post isn’t actually about the aquarium. Today I just wanted to show you that my sister makes the tiniest little people in the world. Her babies are pretty normal sized when they’re born, but then they just stay SO TINY! Anyway, here’s my niece Addilyn with Daniel:

 

Addilyn is a year old, but Daniel outweighs her by 2 lbs. She’s 1 inch longer. Those are his 6 month stats compared to her 1 year stats. So he’s actually had another month to grow since then. Kari’s other daughter is tiny too, so it must just be in the genes. My real question is: how does such a tiny girl end up with thigh rolls? Well, however it happens, it’s adorable.

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Troubles with sleep

Today’s fact: (I think I talked about this when I wrote about the Sie Center, but here it is again.) There are 3 types of Down syndrome: Nondisjunction is the most common (about 95% of cases) which is a 3rd copy of the chromosome in every cell. (This is what Daniel has.)
Mosaicism (about 1-2%) happens when only some of the cells have the extra 3rd copy.
Translocation (about 2-3%) happens when the long arm of chromosome 21 is attached to another chromosome. (This is the only kind of Down syndrome that can be inherited.)

Oh sleep. There’s always something going on with it. This time it’s Will. Will is having trouble sleeping. In particular, he only wants to sleep with his door open and the hall light on. For a few nights he was fine as long as his door was open and the light was on when he went to sleep, but the last couple nights he’s woken up in the middle of the night and wanted the light back on. I remember Kalena going through this phase, but she was older, and our solution was to put a touch lamp in her room. (I’m pretty sure I wrote about that.) That worked well for quite a long time, but eventually she started getting up in the middle of the night to turn the light back on, and it started doing more harm than good so we had to take it away. However, Will is still in a crib, so a lamp wouldn’t work anyway.

So my questions to you are: Did your kids go through this phase? Do you have some awesome nightlight that you want to recommend? He has a nightlight right now, but apparently it’s not bright enough. Also, I’m pretty sure wanting the door open isn’t just for the light, so maybe a nightlight isn’t the solution anyway. Suggestions?

Babies with Down Syndrome

Today’s fact: Babies with Down syndrome tend to be sleepy and placid.

I’ve had a few people ask  me what it’s like to have a baby with Down syndrome and I like to tell them it’s like having the easiest baby in the world. Daniel has certainly fit into the “sleepy and placid” category. He rarely cries, and despite his early-bird waking habits he does sleep well. You’ve seen the pictures of him sleeping on the floor; if he’s tired, he just goes to sleep! I think that people expect that having a “special needs baby” would be considerably harder than a typical baby, but that hasn’t been my experience with Daniel at all. Yes, we have a few more doctors appointments than we did with the other kids, and yes, we have early intervention meetings and therapy, but in the day to day? He’s an incredibly easy baby. He is mellow and content. There have been no episodes of inconsolable crying. I haven’t had to spend hours at a time bouncing him in a bouncer to get him to sleep (ahem, WILL.) I don’t worry at all about taking him out places, because I know he’ll do fine.

I’ve also had people ask if things will get harder when he gets older and the answer is, “Who knows?” Just like I can’t predict the future of either of our other kids, I can’t predict the future about Daniel. I’m sure we’ll have challenges with every one of our kids. I have no idea what they’ll be. So for now I’ll just continue enjoying my easiest baby.

Some favorite books

Today’s fact: Down syndrome doesn’t uniformly affect learning abilities. So while people with Down syndrome struggle with spatial and contextual information, they are much better at remembering information linked to sensory cues like colors, or sounds. (Check out this study if you want more info on this.)

Way back in 2010 I wrote this post about some of Kalena’s favorite books. Those two are definitely still in our regular rotation, but we’ve added some more favorites to the list.

The Little House is one of Kalena’s current favorites. And since it was one of my favorites as a kid, I’m glad she likes it. (Although, as a grown up it does get a little tedious when she wants to read it every day.)

 

{photo credit: amazon.com}

 

Will is still obsessed with dinosaur books, but he’s also a big fan of Eric Carle these days. The Foolish Tortoise, in particular, gets read often.

 

{photo credit: amazon.com}

Even Daniel has a favorite book these days. The Dolly Parton Imagination Library sent him Look Look! last month and he LOVES it. If you set it in front of him he will zone right in.

 

{photo credit: amazon.com}

I mean, I know babies are supposed to like the contrast of black and white, but MAN, I have never seen it in action like this.

What are the favorites at your house these days?

Today: BLAH.

Today’s fact: The term “Down syndrome” is typically used instead of “Down’s syndrome” because John Langdon Down didn’t have it. However, “Down’s syndrome” isn’t incorrect.

Will woke up sick today. When Brian brought him downstairs he was white as a sheet and feverish. Then he started this coughing/gagging/spitting thing and I was sure he was going to puke. He didn’t, but he still looked awful and was complaining that his tummy hurt. Then within hours his color was back, he wanted to eat, and he kept food down just fine. He was totally normal by the end of the day. This isn’t the first time this has happened, so my question is: What is the deal?! Does have a more sensitive stomach? Spike fevers for no reason? Throw up because of a fever? Kalena isn’t like this, so it really throws me off.

Anyway, it meant I spent the morning dealing with a fussy baby while Brian hung out with a sick (?) toddler. Not nearly as much fun as going to Music Makers, which is what I had planned. How was your day?

This and that

Today’s fact: Individuals with Down syndrome are more likely to develop Alzheimer’s and tend to develop it earlier than others. This makes sense, because the gene associated with Alzheimer’s is located on the 21st chromosome. (Again with the fascinating genetics.)

How about some bullet points today? Sounds good to me.

~ Will’s favorite toys right now are a couple of squishy little crocodiles, which he calls “FROCK-A-DIE-OHS” (yes, he says it in an all caps voice.) Here he is showing them to the camera.

 

~ In related news, his favorite new show is a documentary on crocodiles.

~ Kalena has taken to saying, “Try to find me or not!” when she’s hiding. I have no idea where she got the “or not” but she adds it all the time. She also says, “Try to get me or not!” when she wants you to chase her.

~ Will is potty trained. Did I mention that at all here? Brian had a week between the end of his summer job and the beginning of school, so he potty trained him.

~ My parents brought the kids a couple of those mylar helium balloons this weekend and as usual they’re a huge hit. Of course, they’re also a giant pain in a house where the majority of the rooms on the main floor have vaulted ceilings.

~ Kalena is pretty much the world’s best big sister. She always wants Daniel to be happy. And she love to snuggle him.

 

~ Daniel is decidedly less sure about all the snuggling.

Pumpkins at the patch

Today’s fact: In March the Guinness Book of World Records listed Joyce Greenman as the oldest living person with Down syndrome. Born on March 14, 1925, she turned 87 this year.

Brian is on “Fall Break” right now (today and tomorrow off school) so we decided today would be a good time to go to the pumpkin patch! Last time I managed to get there was when I was pregnant with Will, so it’s been a while. Both kids were obsessed with finding the perfect pumpkin. For Will that was a small one, he rejected every one I pointed out as “too big.” (I did finally find one that he thought was a good size.) For Kalena it was one that her grandpa would like. In the end we had to tell her she had to pick or we would choose for her. She probably would have looked at every single pumpkin there if we hadn’t said that.

It was a beautiful day. Unfortunately I got dressed this morning when it was still quite cool out (probably in the 40s) so I roasted. I was wearing a sweater AND wearing Daniel in the ergo and by the time we got to the pumpkin patch it was probably 70 out. The kids had a good time though, despite the fact that we refused to pay $8 (each!) for them to do any of the activities they have set up there. (We came to get pumpkins, not jump on the pumpkin patch version of a bump-n-jump.) And now for some pictures! (What kind of scrapbooker would I be if I didn’t document everything, hmmm?)

As you might guess, her insistence that she pull Will in the wagon lasted approximately 27 seconds. Then she also rode. Sadly, we pulled this out to the middle of the patch and then while we were looking at pumpkins someone took it, so no riding back. (There were a bunch at the front, I don’t know why the wagon stealer didn’t just get his own.)

 

Brian with the older kids. I couldn’t get Will to smile for the life of me, and I’m not sure what Kalena is doing with her hands, but hey! Everyone is facing the camera! You’ll just have to take my word for it that Daniel and I were there too. No pictures of us boiling in the sunshine. (He was in fleece pajamas.)

 

 

And showing off the pumpkins they choose when we got home. (Plus the tiny one Kalena brought home from school on Thursday.)

 

 

Next week we plan on actually carving these pumpkins! That’ll be a first for the kids, and the first time I’ve done it since high school. Should be interesting. (Don’t worry, there will be pictures.)

Physically

Today’s fact: Down syndrome was identified as being a trisomy of the 21st chromosome in 1959, by Dr. Jerome Lejeune.

After Daniel was born I had a few people tell me he didn’t look like he had Down syndrome. And truthfully, when he was asleep I couldn’t see it at all. He looked just like Will! So I discussed with the pediatrician who first diagnosed him the physical symptoms that led to the diagnosis. Here’s what they noticed:

~ Hypotonia, or low muscle tone. This was hard for me to notice at first because to me all brand new babies are a little floppy. I could tell easily by about 6 weeks old how different he felt from other babies that same age.

~ Extra fat pads on the back of his neck. When they measure the nuchal fold during an ultrasound this is what they’re looking for. A larger nuchal fold is a soft indicator for Down syndrome. (This one was easy to see when the nurse pointed it out.)

~ Lower set, rounded ears. This is not particularly pronounced on Daniel, but in combination with the other symptoms was another indicator.

~ An upward slant to his eyes.When he first opened his eyes at me I saw this. This feature is one of the things that makes Down syndrome so easily recognized.

That was really about it. The pediatrician who diagnosed him even went so far as to tell us that it wasn’t a clear cut case, that we’d have to wait for the chromosome test results, but that his gut told him Daniel did have Ds. (We were sure though, after the initial diagnosis.)

So what are some of the common physical traits that he doesn’t have?

~ A single crease in his palm. This results from not keeping tight fists in the womb, and isn’t exclusive to Down syndrome, but is common.

~ A large gap between the first and second toe.

~ Protruding tongue. A protruding tongue in people with Down syndrome is partly due to a small jaw creating a small mouth. Apparently Daniel inherited Brian’s huge mouth, just like our other kids.

~ A single joint in the pinkie fingers.

~ Flattened nose.

There you have it. Of course that’s not all the physical characteristics of Down syndrome, but some of them aren’t visible at birth (smaller teeth, for instance.) One thing I found interesting was that even though Daniel doesn’t have some of the more common characteristics he does have Brushfield spots which are less common. Brushfield spots are white spots around the iris, and I think they’re really pretty. That wasn’t one of the diagnosing features though (probably because Daniel had his eyes closed for like the first 4 weeks of his life.) Anyway, just some interesting stuff. Physical characteristics aren’t an indication of mental capacity in people with Down syndrome. And now a smiling face for your effort.

Trisomy 21

I don’t have a “today’s fact” because this whole post is information about Down syndrome. First, some basic science-y stuff.

People have 23 sets of chromosomes. Each pair is numbered, 1 through 23, with the 23rd set being the sex chromosomes. A third copy of any chromosome is called a trisomy, and is followed by the number of the chromosome with the third copy. Down syndrome, for instance, is Trisomy 21- a third copy of the 21st chromosome.

When the chromosomes were first numbered, they were numbered in order of how much genetic information they hold (with the exception of the sex chromosomes, which are at the end just because.) So the first chromosome is the biggest, and so on down the line. Here’s a picture of all the chromosome pairs:

 

{photo from here}

As you can see, each pair is smaller than the pair before. But look closely, and you may notice that chromosome 21 is actually smaller than 22. When the chromosomes were originally numbered they (scientists, or geneticists, or whoever does that stuff) thought that 22 was the smallest. It turned out later that wan’t true, but it was too late to re-number.

Anyway, the fact that chromosome 21 contains the least genetic information is the reason Down syndrome is the most common chromosome disorder. A third copy of the 21st chromosome has less impact than a third copy of any other chromosome. In theory a trisomy can occur with any chromosome, but in reality very few trisomies are compatible with life. Of the few that are seen in live births, Down syndrome has by far the highest survivability rate, with only about 25% of fetuses with Down syndrome being miscarried or stillborn. (I would say 75% surviving, but that doesn’t take into account termination rates in the case of prenatal diagnosis, and that’s a whole separate post.)

So there you have it- today’s genetics lesson. Any questions?

 

Assessment

Today’s fact: Down syndrome is named for John Langdon Down, who first described the condition in 1866.

Daniel had his 6 month Early Intervention assessment on Wednesday. And if you’re thinking, “isn’t he 7 months old?” Yes. But now he’s been doing physical therapy for 6 months. We met with his therapist and our caseworker to go over the goals we originally set for him, and to set new goals. Here were the original goals:

~Holding his head up in different positions and at different angles

~Bringing his hands to midline

~Rolling over

~Focusing on and tracking things

He met all these goals. Actually, the therapist guessed he’d met them by about a month ago, but his assessment was so soon we didn’t bother to meet before that to set new ones. And our new goals (for the next six months):

~Getting into a sitting position (and sitting)

~Crawling

~Focusing on and playing with a book (he sort of does this already, but we want to see him turning pages and such)

~Using a pincher grasp

~Pulling to standing (this is our hopeful goal. It’s sort of expected that he’ll meet the other ones, this one is less sure.)

Also, we’re on for physical therapy once a week and we’ll be having a speech therapist out to assess him within the next month. After his speech assessment we’ll decide on a frequency for speech therapy. And that’s the latest on therapy! I know this post was super thrilling!

Daniel’s not so sure about the whole thing.