Test Results 5-6/9

Since I got some results back, it's a good time as any to post our regular feature: a "Trip to a Specialist" post! (cue applause).
I want to write about our previous trip (the one where I brought along all the kids) but I know that if I don't post the results first, everyone will just scroll to the end to read them. So here they are. Results 5-6/9. (That's not a medical code. That's 5 through 6 out of 9.)

In summary:

These are the tests to date (all negative) :
Micro Array
Cohen
Angelman (imprinting)
Prader Willi

These are two the tests we took at the last trip:
Angelman (UBE3A)
Williams (mosaic)
Both are negative.

We are waiting for results for these two tests from the last trip.
Rett (atypical)
Fragile X

We have yet to conduct this test:
Celiac Disease

So now about our trip.

The train ride was nice, and really fun for the boys. They kept going on and on about how they are going through a TUNNEL!!! under the RIVER!!! We went on an accordion bus, which was a treat for the boys as well. (Those are the types that are so long that they need to bend in the middle.)

We got into the geneticist's office, and as usual, the wait was less than ten minutes.
The boys had a fun time playing with the toys in the office. The geneticist himself went to the waiting room to bring some toys into the exam room. Wow.

The doctor was taken aback by Adel's singing skills. He had seen videos on this blog, but when he sang to her and she repeated the tune perfectly, he was really surprised. That prompted him to test her for mosaic Williams Syndrome.
Mosaic means that only some of the cells in a person's body have the genetic disorder. Since we had tested Adel for all chromosomal disorders (micro array) and it all came out negative, the geneticist thought that it's possible that Adel has mosaicism. If so, the lab could have chosen one of the unaffected cells from Adel's blood. That would show all the results as normal.

The test for mosaic Williams Syndrome takes several cells to test. That way, they ensure that at least one would be affected.

To say the truth, I was kinda hoping this would be it. Williams Syndrome is milder than any of the others we had tested Adel for. And mosaicism would make it even more mild. Sounds nice, right?

Looking at the list of facial features, I thought we hit the jackpot:
The characteristic facial features of Williams syndrome include puffiness around the eyes (check), a short nose with a broad nasal tip (check), wide mouth (check), full cheeks, full lips, and a small chin (check). People with Williams syndrome are also likely to have a long neck (check), sloping shoulders (check), short stature, limited mobility in their joints (check), and curvature of the spine.

But what's the point now that it was found negative?

Well.
After the doctor we went to the nearby park and had a great time.
Adel was very happy, even though she just had a tinchitilik.

What, you don't know what a tinchitilik is? It's a word my boys made up to mean a poke, like a shot or blood test. Adel had so much blood taken that they drained her dry. She actually had no more blood to give, and they were hoping that she'd have enough for all the tests they were drawing for. But Adi is a trooper!

We ate lunch and then the boys ran off to explore the new territory.

They were enthralled with the fun new features that our parks don't have, like this bridge.

...and this rotating stand thingy.

And best of all... TIRE SWINGS!

Adel enjoyed her own little version of the swing.

Then I hoisted Adel onto my back

and put her down for a nap. We explored Manhattan a little. Visited some stores, got a few useless things... and unexpectedly met up with Hillel outside! It hadn't occurred to me to make up to meet specifically. There's always next time!

We went home on a different train- and this one went on a bridge above the river. The boys were even more excited this time around.

We has a great time, and I will definitely be going with the boys again!

UPDATE:
Today I got a phone call with the rest of the results. All negative.
the only thing remaining is celiac disease, about which I will post next time!

The Missy Miss

Adel's OT calls her "Missy Miss." Just in case you weren't clear on who we are about to talk about.

This Missy just had a 2 week therapy break. Lucky girl! She is starting tomorrow anew, nice and fresh. Hope things go better with the "crying" therapies! Hopefully she will behave now.

Adel went milestone bowling and she hit a strike. Sometimes it's like hiking through a forest and finding a gorgeous flower to pick on the way every so often. Other times, like now, it's bowling.

Let's see. Just today, she:
-cried and pushed away my hand when I tried to take her out of the swing. She has always loved the swings, but it never occurred to her that she can protest, and I'll let her go for another few swings. Today was the first time!
-climbed onto the table at a pizza shop! I know, right?? There she was, sitting in the carriage while us big people hung out at the table. We ate from plates. She ate tiny pinches of food from my fingers. Well, she decided to rectify the situation. She got up on her knees in the carriage. She grabbed onto the edge of the table. She STOOD UP. Full standing, on both feet, in the carriage! Then- she lifted one leg... put her knee on the table. Put her other knee on the table. I have photographic proof. We were staring with our mouths wide open. Then she proceeded to grab handfuls of food from the plates and attempting to eat. She spilled two cups of iced tea. I placed her in the carriage and turned to find napkins, only to turn back and find her back on her knees, splashing in the iced tea puddle. FUN!
Now she won't have to resort to pulling on the tablecloth in hopes of something substantial falling off the table.

Ohm-nom-nom!!


O hi, Ma! I can explain. Really.

-another milestone from today was more mine than hers. I wore Adi on my back for the first time in public. She's not getting any lighter (B"H) and the time I have left to carry her on the front in the Ergo is limited. The back carry is so much easier! But the problem is that it's not as easy to get her on. I need Zusha's help to hand me a strap here or there... a mirror to make sure all the limbs are in the right places, or a bed to lay Adi out on the carrier and then put her on like a backpack. Today we were out and she was getting sleepy. Getting sleepy, but not wanting to lie down in the carriage. I decided to try a new maneuver I thought of to get her onto my back. If it wouldn't work, I'd wear her on he front. Well, it worked! Now I hope to be able to wear her like this to her appointments when she gets too heavy for the front.

Over the last week or two, Adi had also learned how to get up into tall kneel without holding on to anything. She can be in middle of the room and get up standing on her knees by herself.
And on the bed she can do even better- she gets up into full standing while holding on to the bed rails. Which can only mean one thing- if she can pull to a stand on the bed, she will be doing it on the floor within a couple of weeks!

Luckily, her other new milestone is understanding that you have to get down carefully from the standing position. Adel will bend her knees, reach one hand down to touch the floor, and plop on her padded tush.
She likes the plopping down so much that she has made a game of it. When we are on my bed, she crawls up on top of me, sits down, picks up her arms and grins. Then- she gets herself onto her feet, stands for a moment, and falls over like a log, not bending at all. Kinda like a belly flop dive. Then she laughs and laughs!

Now that the weather is nice (MUCH nicer now than when these photos were taken. It's in the mid eighties! No coats or hats for us!) Adel isn't restricted and can crawl around the park! The question is - does she want to? Sometimes she will crawl, but often she'll just sit on the grass or on the jungle gym, right where I put her.

OH! She also has a new word, but I'll post it later. I don't want it to be lost in this long post. (Nope, it's not Mama. Not Tatte. Not Zusha or Gedalya. The only "name" that she says is the cat's - ah-myaaaaaaaaaa!) Stay tuned for her new word post.

Warning: There is Chometz in This Post

...but none in this house! Ah-ha-haaa. We just had a Pesachdik Shabbos. No hectic headless-chicken maneuvers for me this erev Pesach!!

Nevertheless, (and bear with me as I gracelessly try to connect the random themes of this post) nothing says "Pesach" like "Purim."

Because they are both "P" holidays, I guess.
So I figure it's my unwritten rule- make sure pictures of one holiday are posted before the upcoming one. LOLz.

The shalach manos, from left to right:

Black/white cookie for ohr/choshech (with the three stars necessary for havdala),
Grape juice bottle for Gedalya's costume,
Cinnamon cookie snacks for Adel's besamim costume,
Wafer rolls- I taped red foil "fire" onto the picture which already looked like a candle,
and all the way on the right are little white organza baggies stuffed with cloves and cinnamon.

The little red squares in the above picture are these:

How cute and perfect is that?

We were going around town, giving shalach manos...

...and Adi just fell asleep. She was so comfy in the carrier!

But I had to take her costume off. At first I tried to get it to work in the Ergo, but it was pretty uncomfortable for us both. Unfortunately, I didn't have a chance to take pictures of Adel dressed up on Purim (I have pictures from before Purim, but that's not the same fun.)

Fortunately, I was able to find a way to keep her looking dressed up- I tied the costume to the carrier.

Hot stuff.

Sweet boy.

Dancing together in the street.

Observing others' costumes with amusement. I'm glad I was able to capture these expressions! I don't ever want to forget them.

And here are a couple more evidential photos of Adi's love of chocolate...

That's one thing Adi doesn't need to be taught! (Some hereditary traits run strong.)

The Backsaver

Now for the Ergo photos and mini review!

Honestly, where has this carrier been all my my kids' life lives? It is just the thing I was looking for, and just the thing everyone needs if they have a baby and if they plan on ever transporting that baby basically anywhere.

My first carriers were a Hotsling and Maya Wrap. They are great, and I love them! But they are more for smaller, lighter babies. It became too hard for me to carry Adel in them after she turned one, and I was dreading doing so. Considering the many appointments I had to take Adel to, I'd need to be carrying her often. I heard great things about the Ergo, and decided to invest in one. I knew I would get much use out of it because walking wasn't on Adel's horizon.

After playing around with the belts, I found the right combination, and I don't feel Adel's weight at all! This carrier is better than a Snuggli or Baby Bjorn because the baby isn't hanging from your shoulders, but rather straddling you. It's like carrying a child on your hip as opposed to having him hug your neck and hang on you. Which one would you choose?

The Ergo can be worn on the front, back or hip. I have never tried it on the hip. When I wear Adel outside, it's always on the front. It's too complicated to put her on my back in public. I need to make wacky maneuvers and to have a mirror to check if it's right. At home, I wear Adi on my back while I cook, vacuum (she is less afraid that way) and sometimes when I put her to sleep.
It comes with a hood that supports the baby's head, so sleeping is nice and comfy.

I take Adel to all her specialists in the Ergo. Sometimes I don't even take a stroller along.
And I must admit- I love having Adel's face so close to mine.

And just for fun...

And it didn't feel so heavy at all! The weight distribution is great.

Zusha thought it was hysterical.

I did wear Gedalya, but I don't have photos. To make up for that, I'll let you know that he was the FIRST one to try out the Ergo. It was right when I pulled it out, nice and fresh from the box - a few minutes before we had to go pick up Zusha from cheider, so I didn't have time to take pictures. Maybe I'll do it again, just to have the pictures.