Howdy From Texas!

We're alive!

No pictures this post, because while I brought my camera with me I neglected to bring the cable for the computer. I'm taking pictures, but until I find a way to upload them they'll have to sit on my camera.

So we survived our flight. Barely.

The trip to the airport was uneventful-- E's mom was gracious enough to give us a ride (Thanks!) and the two little ones made various ridiculous noises at each other in the back of the car while we chatted up front. Once we got to the airport, I hauled Connor and our obscene amount of stuff up to the line, checked our bag, and then headed over to security. That's where we hit our first snag.

I took Connor's shoes off, my shoes off, got out the multiple gallon plastic bags that contained all of Connor's medication and supplies, and prepared us to walk through. The lady at security looks at us, points to Connor's wheelchair, and says in the monotone fashion of someone repeating the same phrase for the 80,000th time:

"That needs to go up on the x-ray belt, ma'am."
My well-worded response was: "Um."

I'm eying the x-ray belt, and there is no possible way that Connor's wheelchair is going to fit through that tiny little area. I told her so, and she snapped:

"Well, doesn't your stroller fold up?"

I said that while my son's wheelchair folded a little bit, it wasn't going to fold up enough to fit through that space... and the second I said the word "wheelchair" her whole demeanor changed.

"Oh, honey, I'm sorry. I thought it was a stroller. Here, I'll take all of your stuff and run it through and you go right over there with that man, okay? He'll take care of you, sweetie. Bob? Can you take care of this cute little guy's wheelchair?"

Bob brought us over to the side. I told him that I could take Connor out of the chair for him, and he said:

"No! No that's fine. Here, just let me know if I'm making him uncomfortable at all and I'll stop."

He then patted Connor down very gently, took a quick look at the chair, and then helped us through. They got all of our stuff off the belt for us and offered to call someone to help us to the gate. I told them thanks, but we'd be fine. "Just let us know if we can do anything for you!" Bob said as we were leaving.

So we got to the gate and I went up to the desk. The lady behind the counter glanced up from her typing.

"Did you have a question?"
"Yes! I've never done this before, so I was wondering how the process works of getting my son on board."
"Well, we'll check your stroller at the gate. You can line up when they call for parents with children." She went back to her typing.
"Well, actually its his wheelchair, and-" Again apparently wheelchair was some kind of magic word.
"Oh! I'm sorry, I thought it was a stroller. Here, we'll get this all set up for you. I'll tag the pieces, and then they'll help you down first so you can get settled. They should have done this at the ticket counter for you! I'm so sorry!"
"I can carry him down, he's not very heavy."
"No, don't you worry about a thing. We'll take care of it." She then called the man who would be at the gate when we were boarding the plane to let him know about us, came out from behind the counter, tagged his chair, walked us over and got us settled at the gate, and told me to let her know if we needed anything at all.

They seated us first on the plane, before they even announced boarding. They set up Connor's car seat for us and stowed our luggage. The flight attendants sat us up at the very front where the leg room is, gave us lots of extra crackers, and offered to sit with Connor if I needed to use the restroom.

I'm thinking that part of this was probably airline policy, but I secretly thought it was kind of hilarious how the second people found out that Connor's (admittedly very stroller-like) wheelchair was in fact a wheelchair, all of the sudden we were elevated from just another parent and toddler duo lugging way too much equipment around to people who deserved star treatment. I'm not saying it wasn't nice, but it was sort of amusing.

The airport wasn't all fun and games, however. Connor finally pulled that right hearing aid out one too many times, and he ripped the tubing out of the earpiece. This is not something that I can just snap back into place. We will have to take a trip to the audiologist for this one, and that means he is without a hearing aid on the right side until I can get him an appointment. I wasn't very happy with him.

Of course, Connor wasn't very happy with me either, so I guess we were even. Getting on a plane, even if he's flown 16 times before, was not his idea of fun. He was okay for the flight to Albuquerque, but he started getting fussy while we waited on the tarmac to take off, and by the time we touched down again in Dallas he'd spent the last 45 minutes sobbing into my shirt. We stepped off the plane at a little bit past ten, I plunked him down in his wheelchair so I could carry the rest of the luggage, and he reacted as if I'd just set him down on a bed of nails. He was flinging himself from side to side in the wheelchair and crying so hard he broke out in hives. It was not exactly a triumphant entrance. He calmed down a little bit after a diaper change, but he was still pretty grumpy until he fell asleep at my parents' house sometime around 11:30 at night.

Today I discovered the reason for the grumpiness: somewhere along the route I must have switched children. I got on the plane with my darling, happy-go-lucky smiling child, and I landed with Mr. Crabbypants of the realm of Doom and Gloom. He spent all of today clinging to me like a limpet, and any time I set him down or ventured more than three feet from him he apparently thought I had Left Him Forever and the waterworks commenced. He did eat well, which is good, but right before bed he threw up all over himself and me, and then after I cleaned him and myself up he threw up again, this time mostly missing himself but scoring a direct hit down my bra. I'm now down to the shirt I'm wearing and a sweater, which since it hit eighty-something degrees today is not going to do me a lot of good. Good thing my parents have a washer and dryer. I believe I will be spending some quality time with them.

I'm praying that he'll perk up and not be so clingy tomorrow, since I'll be leaving him with my mother-in-law while I attend the wedding. If he has a day tomorrow like he did today she might not want to babysit for me ever again, and this would be a sad state of affairs. We'll see what happens.

I probably won't get a chance to blog tomorrow, but I'll let y'all know how the wedding went on Saturday!


~Jess

In Which I Leave A Huge List of Things to be Done at the Last Possible Minute

I'll be getting on a plane tomorrow and as usual I still have about 8,000 things to do that I left until the last minute, but I had to post and share two quick things.

1) Connor had a doctor's appointment yesterday in which the pediatrician determined that there might be an weensy amount of fluid in Connor's right ear, but she wasn't sure. There was definitely no ear infection or any irritation. This means it's looking more likely that there's something going on with his hearing. Crapola.

2) Connor and Loki like to play racing cars together. Connor makes the cars go, and Loki swats them off the road. Connor thinks this is hilarious, but it drives me crazy because I'm the one who has to put them back on the "road" every time Loki bats them off, which is once every thirty seconds. This does not help me pack. I tried shutting Loki out of the room, but Connor refused to play with his cars until I let the cat back in. My kid really needs a sibling to play with.

We'll see you all in Texas!

~Jess

Medical Monday: Hydronephrosis

It's that time again: Medical Monday! I blog each Monday about a different condition Connor has and then post a link to it on the side bar as I go. This way people can get a better idea of what Connor deals with on a daily basis and his family and friends can understand what I'm saying when I call and spout ridiculously long medical terms.

DISCLAIMER: I would like to emphasize for those people who stumble upon this blog that I'm not a doctor, and I have no medical experience other than the approximately 900 doctor's appointments I've been to in the past two years. I just know about these things in relation to how they apply to Connor and not anyone else's child, so if you want accurate info on this sort of thing, please please please ask your doctor or go to the medical library instead of looking it up on the Internet. The library is your friend.

Today's topic is hydronephrosis. Let's have a mini English lesson and play break down the word, shall we?

hydro-- water

nephro (o is dropped)--kidney

osis-- disease

The kidneys are your body's cleaning system-- kind of like the filter on a fish tank. They sift out all of the waste products and extra water from your blood and use it to create urine, which then travels down the ureters to the bladder where it is stored until it is released from the body. They also produce two major hormones and one enzyme.

There are several different things that can cause the condition called hydronephrosis, but by far the most common reason for it is that somewhere down this system, a blockage has occurred. It can be something like a kidney stone, or it can be a problem with the formation of the ureter. The urine tries to flow down the ureter, but the blockage prevents it from reaching the bladder, so it backs up into the kidney. The kidney continues to produce urine, but now there's nowhere for it to go. Hence "water kidney disease." What ends up happening is that the kidney begins to swell like an inflating balloon, and if it gets big enough, irreversible damage can occur. Almost all hydronephrotic kidneys never get to this size however, and often times the blockages either resolve themselves before the child is born or can be fixed with minor procedures. Not in Connor's case, of course, because that would be waaaaaaay too simple for this kid.

Connor's blockage was a type called a ureteropelvic junction obstruction. What this means is that the blockage was right at the base of the kidney, at the joint where the ureter and the kidney meet. That's a pretty common place for the blockage to occur. What wasn't common was just how large Connor's kidney became and how serious the condition was.

Connor's blockage caused his right kidney to begin enlarging while I was only four months pregnant with him, and it continued to grow throughout my pregnancy. Here's a freaky fetal MRI picture they took of him while I was eight months pregnant. Ignore the crazy Mars Attacks eyeballs and brain and check out his body. The top white area in his torso is his lung. The bottom white area is his kidney. The kidney is bigger. Think about that for a minute. A kidney at that stage in development is supposed to be less than eight millimeters across. Connor's right kidney was sixty-two.

So when the kidney is ballooning up like this, there's only so much it can expand before bad things start happening. All of the material inside that is supposed to be doing its job of filtration and hormone production starts getting squished up on the inside, and as the cells are compressed they can be damaged. When a kidney is extremely enlarged, like Connor's, those cells can stop functioning, and blood pressure can skyrocket because the kidneys aren't pulling enough salt out of the bloodstream. The kidney also begins to displace the other organs, pushing against the diaphragm so it is hard to breath, and pressing on some of the major blood vessels of the body, cutting off blood supply. This is extremely dangerous.

So what can you do in an extremely severe case of hydronephrosis like Connor's? You can't just remove the blockage and leave the kidney to recover in a case like this, because the kidney is too damaged to work properly even after it's "deflated." You have to take the kidney out. Connor had his right kidney and the top portion of his ureter removed when he was five days old in a procedure called a nephrectomy. You can read about his surgery and the events leading up to it here, if you are interested.

Luckily, you can live quite easily with only one kidney, and Connor's left one seems to be functioning quite well. It's a little larger than the kidneys of most kids of his size, but that's pretty common when you've only got one-- it grows a little so it can do the work of two! We call it his "super kidney." Once a year we go in and have his urine tested to make sure that his left kidney is functioning the way it should be, and this adds yet another check-mark under "no contact sports" as we want to protect the one he's got, but otherwise it shouldn't affect him in any way.

You can learn more about hydronephrosis and nephrectomies here:

Children's Hospital Boston: Hydronephrosis

UCSF Medical Center: Hydronephrosis

Urology at Hopkins: Ureteropelvic Junction Obstruction

Encyclopedia of Surgery: A Guide For Patients and Caregivers-- Nephrectomy

~Jess

Up, Up and Away!

Connor and I had a relatively nice, uneventful day today. He's still a little more emotional than usual, and he still won't leave his right ear alone, so I'm really thinking a trip to the doctor is an order. We're leaving for my brother's wedding pretty soon, and I'm sure getting on a plane if you've got fluid in your ear would not only cause Connor to have a long, long plane ride, but also me and all of the passengers sitting within a forty foot radius of us. We're going to try to avoid that scenario if at all possible.

Connor is a veteran flyer-- this will be his, um, seventeenth flight. I think. I've sort of lost count. He's usually fantastic on the plane, but this time we have are throwing in a few complications in addition to the whole possible ear infection thing. Normally we have Jeremy along with us, but he's not going to make this trip, so I'll be juggling baby and luggage alone. Also this will be our first flight with Connor's wheelchair. It should be interesting, as in addition to the chair and our luggage I will also be carrying on a car seat so Connor can sit in the chair that we paid 400 dollars for (and therefore will use if its the last thing we do, because the idea of paying all that money and giving the airlines a free seat causes me actual physical pain) instead of having to be on my lap, which is where he would otherwise be since he can't sit in those chairs without flopping over and being Terribly Unsafe. I'm not sure exactly how I'm planning to manage all of this stuff, but I figure I'm going to be that lady that no one wants to be behind in the security aisle.

Oh well. I'll let you all know how it goes.

~Jess

When Life Hands You Lemons....

Ellen over at To The Max has gifted me with the Lemonade Award! Thanks Ellen! I'll pass this on to some of the bloggers I follow with infallible spirits and doggedly upbeat attitudes:

Sarah at The Life of Evan

Kara at Lessons Learned from a Bee

Princess Abigail (and her Mama) at The Bernard Bunch

Ashley's Mom at Pipecleaner Dreams

Mia at General Hysteria

Now there's a bunch of ladies that know what to do with lemons!

~Jess

In Which Connor And I Almost Murder Many Small Children, Especially Eight Year Old Boys

See that facial expression? I believe the thought running through my son's mind at that particular moment was probably something along the lines of "Oh boy. What has my crazy mom gotten us into?" Connor and I took a trip today with baby E and her mom down to our local roller skating rink for a little stroller skating.

That's right. Stroller skating.

I wasn't even aware that such a thing existed until E's mom gave me a call earlier in the week. The general idea, as it was explained to me, is that you take a large, heavy object with tiny little wheels and a baby inside, give it a driver, also on tiny little wheels, who hasn't been skating since well before she had the aforementioned baby, and then watch her attempt to maneuver through masses of unsteady giggling preteen girls and eight year old boys who deliberately shove each other into the path of said driver. The goal is for the driver to seriously injure or kill the fewest number of other people's kids before either the stroller skating time closes or she drops dead of exhaustion and sustained injuries, whichever comes first. They had a two hour time-slot devoted to this dubious pastime down at our local rink. Was I interested? "Sure!" I told E's mom, mentally reviewing my will and next of kin information just in case it was needed. "Sounds great!"

We walked into the place and it was like being transported back to junior high school. Skating rinks all over the country seem to be decorated by the same designer. They still have the decor centered largely around whatever upholstery glows in the most day-glo colors under black light. They still have the big padded walls that all of the little kids cling to while they try and walk in their skates. They still have an overly jovial DJ and blare music over the speakers-- and they even still play some of the same songs. The Hokey Pokey and the Chicken Dance are apparently classics for the ages. The stroller skaters were new, however. There was one lady already out on the floor, weaving in and out of the little kids like a pro, her toddler leaning forward into the wind. He needed goggles and an aviator cap.

The last time I'd skated was maybe six or seven years ago, so I asked E's mom to watch Connor while I tried a practice round to make sure I wasn't going to kill the both of us and whoever else got in the way. I wobbled a couple of shaky circuits around the rink, my knees at odd angles and my ankles periodically shooting out in unintended directions. The eight year old boys were laughing at me as they glided by. Things were not off to a good start. I stumbled back on to the carpet and told E's mom that maybe this wasn't such a good idea. After a second practice round, however, my feet began to remember the rhythm needed, and I felt a little more confident. Throwing caution to the winds, Connor and I took to the rink together.

You know what? Skating with something to hold on to is a lot easier than skating with your hands free. E's mom and I skated for an hour and a half, and we both didn't have a single wipe-out on the rink. As an added bonus we didn't shuffle any small children off this mortal coil either! There were a couple of eight year old boys I seriously considered offing, though. They kept skating in front of us and deliberately wiping out in dramatic fashions to see us swerve. That would have been a big mess to clean off the stroller wheels, however, so I restrained myself. Connor and E didn't know quite what to make of the whole situation, but they weren't upset about it either, so that was good. It ended up being a lot of fun for E's mom and me, not to mention a heck of a workout, and we've made plans to do it again. One of the managers stopped by to chat as we were peeling our feet out of our skates and attempting to breathe, and she said that they also allow wheelchair skating. I think Connor and I have found a new sport. All the eight year old boys better watch out.

And now, visual proof that I didn't just make this up. Here, for your viewing pleasure, is actual video footage of Connor and I stroller skating and waving at the camera. Enjoy.

~Jess

Golden Day

Today was one of those days that makes you realize no winter can last forever. I woke up this morning to the sun streaming down on my pillow and Connor laughing delightedly in my ear. We walked outside and it felt as if sometime during the night our house had quietly picked us up and moved to Colorado-- clear, cloudless achingly blue sky, mild temperature, the mountains stretching their snow-covered shoulders in the distance. I saw the first honey bee I've seen in months making frantic love to the tiny purple crocuses in my front flower bed. We threw open all of the windows and doors, turned the radio up, shook all the rugs out, and began our own spring cleaning.

Nothing could have possibly gone wrong today. I found a twenty dollar bill in my coat pocket and missing library book under a chair. When we went to the library to pay for the book (lost since last November) the woman behind the counter simply extended the due date until March so we could turn it in without paying the fine. When we took a picture to our local craft store to have them add a wire hanger to the frame, the girl behind the counter took it into the back room, added the hanger, and then refused payment, handing it to us with a smile. I found two books I've been looking for for months on the clearance rack of our used book store. We stopped at our favorite coffee shop to read and have a cup of tea, and the owner brought Connor out a little cup of hot chocolate with whipped cream and gave me a cookie. Traffic was light and they played my favorite songs on the radio. Connor figured out how to rock himself in his rocking chair and spent the afternoon giggling and playing happily while I whistled my way around the kitchen. He ate well and went to bed quietly and on time.

I wish I could go back and share this day with the me of three years ago. I was terrified, very much alone, and convinced that winter would never end. I'd spent three months waiting to lose my son and I had one month of waiting left to go. It would have been such a comfort to know that every moment of sorrow and agony I experienced during that wait would be encompassed threefold by joy on days like these.

I know that next week we'll probably be back to our usual wet, gloomy skies and freezing temperatures, but today has reminded me that even though it seems like it's been dark and cold forever, spring is on its way.

~Jess

Cricket, The Retrieving Wonder

Have I told you that my cat Cricket fetches things? Mostly it's drinking straws. We had a big package of them that we were using for tactile therapy for Connor, and Cricket began pulling them out of the container they were in and running around the house with them. Now all of them have little kitty teeth marks in them, ensuring that they will remain cat toys forever, because I'm not drinking out of them. She runs up to you, drops one on your feet, and then does this little weaving dance in front of you until you pick it up and throw it. Straws don't go very far when you throw them, by the way. I think eight feet is about my record. She doesn't like to work too hard, though, so I guess she thinks this is adequate.

When you throw one for her, she races after it and then does this one-cat-and-straw reenactment of the Battle of Rorke's Drift, fighting against fierce odds and still managing to overcome them and triumph. She has this move that is particularly impressive where she hooks a paw under the straw, flips it up in the air, and then snatchs it out of the air with her teeth. Finally after much dodging and wrestling, she grabs the vanquished straw in her mouth and trots back triumphantly to lay it at your feet and have you throw it again. Repeat ad nauseam.

She also stands up on her hind legs on command. Sometimes. If you have food.

Crazy cat.

~Jess

Brown Paper Packages Tied Up With String...

Yes, in this picture, those are convenient cat-sized holes in the blinds. Loki doesn't like anything getting in the way of his view, so when we moved into this house he politely waited until we went out of town for a while and then fixed the problem in every room of our house, probably using his teeth. I look forward to replacing all of the blinds and possibly also substantial portions of our beige carpet (little tip for you: when you have a child with severe reflux, never feed them dark chocolate Pediasure unless you really didn't like your carpet anyway) whenever we move.

Connor's cardiology appointment went very well. Dr. P took a good look at him, did an echo and an ekg, and then declared Connor's blueness to be probably related to a combination of super, super fair skin tone and mild temperature regulatory issues that his increased activity have aggravated-- nothing to worry about, thank goodness! He said Connor's heart function looks fantastic. He also cleared us for g-tube surgery, so we're good to go. We've scheduled an appointment with the general surgeon in March, and during that appointment we should be getting Connor's surgery date at long last.

Now that one issue is resolved, we have another one to worry about. Doesn't it always seem to happen that way? For about the past week, Connor has been pulling his right hearing aid out. He won't leave it in for more than five minutes at a time. He's usually really, really good about keeping his hearing aids in, and he's leaving the left one alone-- it's just the right one he's pulling out every time. I asked him today if he could hear out of it, and he signed "No. No hear." Now I've checked the hearing aid out, and it's working the way it should be, so I'm wondering if maybe he's had some more hearing loss on that side. To check that, we'll need for him to have yet another sedated ABR. Joy of joys. We're waiting on a call back from his audiologist to see what she wants to do.

That's his better ear too, dang it.

We did have one more big event today. We received a package in the mail, addressed to Connor. I opened it up and took out Connor's long-awaited communication aids and switches! We've been waiting for these things for over a year, people. Bad insurance juju caused some major delays, but finally they are here, and we can't wait to try them out!

Connor is now in possession of two LITTLEmack communicators, one Vertical Wobble Switch, and one Powerlink 3 Control Unit. The LITTLEmack communicators are basically a button attached to a tape recorder. When you hit the button, the recorded message plays. We can use them to help Connor make choices; instead of having him eye-point, we can record two messages and he can push the button for the one he wants. They aren't anything hugely complicated-- nothing like the Vantage Plus the very talented Schuyler is using over at Rob's blog (you should all read his book by the way, as it's fantastic) but they are a start.

The wobble switch helps Connor do activities he wouldn't otherwise be able to do. It's kind of like a giant "on" button shaped like a joy-stick. We can plug it into a bunch of his toys that we've converted to be switch-activated, and he can turn those toys on and off by swiping his hand across his switch. It helps him be more independent as well; he can turn his nightlights off and on himself, as an example.

The Powerlink 3 is kind of like a giant switch board. It can change the function of Connor's switch. With the Powerlink, we can make his switch turn an electronic device on for a certain amount of time instead of just having it be a "one swipe on, one swipe off" set-up. We can also plug things into it that aren't switch adapted, so we don't have to convert them. This is so I can put my son to work. With the Powerlink, he can turn the mixer on for me while I'm cooking, turn on the vacuum to scare the cats away from my potted plants-- the possibilities are endless. I'm sure we'll use it for things other than my personal convenience, too.

We took a class a while back and have converted a ridiculous number of toys for Connor to use with his switches. We really, really like our soldering gun and will jump on any excuse to use it. Our current project is to convert a Powerwheel Jeep so that Connor can drive it with a switch. This has been our current project for the past six months or so, because we only work on it about 15 minutes a week, and in the meantime it has taken up permanent residence in the middle of my office floor in about 800 pieces. I'm sure we'll finish it about the time he outgrows it and can't use it any more. Oh well.


~Jess

We Got The Call!!!

I heard a terrific banging noise coming from the direction of my entryway today, and discovered Loki engaged in an epic battle. He was attempting to break his enemies "neck" by picking it up in his teeth and slamming it into the wall repeatedly. Then he'd throw it on the floor, bite it in the "neck," and kick it with his hind legs to "disembowel" it. See how diligently he defends me from his fierce and vicious foe?

This is why I will not be buying shoes from Neiman Marcus any time soon.

Crazy cat.

In other news, we heard back from Connor's cardiologist today! He was very courteous, listened carefully to all of Connor's symptoms, and said that because Connor wasn't experiencing any change in "state of mind" during the episodes-- no confusion, loss of consciousness, etc. that they probably weren't something we needed to worry about, but that he wanted us to come into the office tomorrow to get him checked out, and he wrote us in. He also gave us a way to reach him more directly if we ever came across another situation where we needed to get a hold of him. I'm relieved-- didn't think it was anything big, but it's nice to hear it from a doctor. A polite doctor.

For the folks at home, here's a picture of Connor's "happy" toes, and a picture of Connor's "Popsicle" toes-- or I should probably say "Popsicle foot," as the whole darn thing turns blue, along with his fingers and the skin around his mouth. The picture on the left was taken after he'd been exercising for a little while, and the one on the right was about five minutes later after a rest and the reemergence of the pink "happy foot." Dramatic, no?
















Anyway, this will also be the last appointment we have to get out of the way before we can finally report back to the general surgeon to make Connor's g-tube appointment. This makes me very happy. I have Rocky Road ice cream to celebrate. Yum.



~Jess

Medical Monday: Connor's Chromosomal Condition (The Extremely Long Explanation)

Yes, yes, I know it's actually Tuesday. You wouldn't BELIEVE how long it took me to write this post. But I started when it was Monday, so Medical Monday it is.

So anyway, it's that time again: Medical Monday! I blog each Monday about a different condition Connor has and then post a link to it on the side bar as I go. This way people can get a better idea of what Connor deals with on a daily basis and his family and friends can understand what I'm saying when I call and spout ridiculously long medical terms.

DISCLAIMER: I would like to emphasize for those people who stumble upon this blog that I'm not a doctor, and I have no medical experience other than the approximately 900 doctor's appointments I've been to in the past two years. I just know about these things in relation to how they apply to Connor and not anyone else's child, so if you want accurate info on this sort of thing, please please please ask your doctor or go to the medical library instead of looking it up on the Internet. The library is your friend.

A FURTHER WARNING: This is a really, really long post, folks, and it's still a simplified version of what is a very, very complicated process. If you aren't all that interested in the hows and whys of balanced and unbalanced translocations, I suggest you skip it. Sorry. Oh, and also my drawings are really bad.

So today's topic is the big one-- the one that caused it all. That, my friends, is Connor's genetic condition-- a submicroscopic subtelomeric unbalanced translocation 46xy der t(1)(1;15)(q42;q26.2). That's quite a mouthful! But what the heck does all of that gobbledygook mean?

To explain that, we're going to have to go back. Way back. Not to Connor's conception-- but to his dad Jeremy's. This is because while most genetic issues are what's called de novo-- meaning they are spontaneous mutations that weren't passed down from either parent, that wasn't the case with us.

Every cell in the human body is a diploid cell; it has within its nucleus 46 chromosomes-- 2 pairs each of chromosomes 1-22 and either a pair of X chromosomes or an X and a Y chromosome-- which carry all of the genetic information of that unique individual. Every cell, that is, except mature sperm cells. During sperm cell production, the cell undergoes a process called meiosis. It's a really complicated process, and you can see a video about it here if you want the long complicated explanation, but when it's all over and done with you end up with four sperm cells with only 23 chromosomes in each sperm cell-- haploid cells. Here's a basic explanation of the whole process if mine didn't make any sense.

Anyway, so on to fertilization. Sperm, meet egg. Egg, sperm.

The egg still has two full sets of chromosomes. However, just before it begins its journey to meet the sperm, the egg's chromosomes split apart. There's still 46 of them in there, but they aren't attached to one another any more. They stay this way until the sperm and the egg meet, and then the sperm's 23 chromosomes all pair up randomly with one of the egg's chromosomes. The sad loser wallflower egg chromosomes that didn't get picked up by the suave handsome sperm chromosomes are launched into oblivion in a little capsule called a polar body, leaving an egg with 46 unique chromosomes-- the beginnings of a new human being.

A crazy little fact-- there are 64 trillion different ways the egg and sperm chromosomes can combine, pretty much ensuring that all of your children will be absolutely unique, unless you are having identical twins, which I'm not going into here. Um, anyway, back on topic.

So in all of this chromosome tangoing, there is room for error. Sometimes when the chromosomes are doing their delicate dance of separation and partnering, something goes wrong.

So here's our starting point:

In Jeremy's case, what happened is when either the sperm or the egg did their initial division, perhaps during the process called crossing over, or during the time that the sperm and egg were combining, two tiny pieces of chromosomes 1 and 15 broke off.


They then switched places. This is called a balanced reciprocal translocation. All of the genetic information was still there-- it was just in the wrong place.



What effect did this have on Jeremy? Absolutely no effect, that's what. We had no idea, in fact, that he had anything different about his DNA at all until we had Connor.

So here's the deal. Jeremy's sperm go through meiosis. Remember he has two copies of chromosomes 1 and 15-- one with the error, and one without. So what happens is that as the sperm cells divide, they can end up with one of four different combinations of those two chromosomes:

Sperm 1: Has two normal chromosomes.

Sperm 2: Has two abnormal chromosomes.

Sperm 3: Has a normal chromosome 1 and an abnormal chromosome 15

Sperm 4: Has an abnormal chromosome 1 and a normal chromosome 15

So what happens in each of these scenarios when these sperm meet with an egg containing normal chromosomes?

Sperm 1 + Egg = A completely normal pair of chromosomes on both 1 and 15. This baby would have no genetic issues and could not pass on any issues to his or her children.

Sperm 2 + Egg = Another balanced reciprocal translocation. This baby would have all of the genetic information there and be unaffected just like his or her father, but would also run into the same issues when it's time for baby making as dear old dad had to deal with.

Sperm 3 + Egg = Uh oh. Here's where we start running into trouble. Because only one of the abnormal chromosomes was passed on, this baby has an extra bit of chromosome 1, and is missing a piece of chromosome 15. This is called an unbalanced translocation. Not all of the information that's needed is there, and some of the information is copied too many times. This leads to all kinds of problems, depending on what information is missing and copied.

Sperm 4 + Egg = Uh oh again. This baby is missing information on chromosome 1 and has too much of chromosome 15. This is what Connor has, and is the cause of all of his birth defects-- key "instructions" for his development were missing or altered from what they should have looked like.

So with that complicated explanation out of the way, lets break down that whole long mess I listed up there at the top. We can take it piece by piece.

submicroscopic: Connor's genetic issues are so small you can't see them under a microscope or with regular genetic tests. We had to use a special test to find the issues.

subtelomeric: This talks about the general location of the issues. The ends of the chromosomes are called the telomeres, so 'subtelomeric' means that Connor's deletion and duplication are right at the very ends of the chromosomes, instead of being somewhere in the middle.

unbalanced: Not all of the information that's supposed to be there is there, or too much is there.

translocation: Pieces of the chromosomes have switched places.

Okay, here's where we get into the really technical mumbo-jumbo

46: This is the number of chromosomes Connor has.

XY: This means Connor is a boy, with one X chromosome and one Y chromosome.

der: This stands for derivative chromosome. Basically it means a chromosome that is abnormally formed of two pieces of different chromosomes.

(1): This means that chromosome 1 is the derivative chromosome, or as I like to call it, the "Frankenstein" chromosome.

(1; 15): These are the two chromosomes that are affected by the unbalanced translocation. The one with the deletion is listed first, and the one with the duplication is second.

(q42; q26.2): This is giving a specific "address" for the unbalanced translocation. A little explanation:

Each chromosome has two "arms"-- the long arm is the 'q' arm and the short arm is the 'p' arm. The chromosomes are further divided into cytogenic bands-- lines on the chromosomes that appear using certain stains and are numbered. The further away from the center of the chromosome, or centromere, they are, the higher the number. Each band is also divided into sub bands, and sub sub bands. Complicated, no? The chromosomes are numbered from longest to shortest, so while the 'q' arm, or long arm of chromosome 1 has four bands, the q arm of chromosome 15 only has 2. What (q42; q26.2) means, then, is that Connor has a deletion of the long arm, or q arm, of chromosome 1 from band 4 sub band 2 to the end, or telomere, and a duplication of the q arm of chromosome 15 from band 2 sub band 6 sub sub band 2 to the telomere.

Hence, submicroscopic subtelomeric unbalanced translocation der t(1)(1;15)(q42;q26.2) Whew!

So in addition to all of the different birth defects caused by Connor's genetic condition, he also has what are called dysmorphic features. Now, while having one or two of these doesn't mean that your child has a genetic condition, if you take them all together it may mean it's more likely they have one. Every different chromosomal disorder will have its own set of dysmorphic features, and these can be used as clues to help figure out what to test for. The geneticists are kind of like detectives-- trying to use these clues to figure out which genetic syndrome is likely. While there aren't any people we know of with Connor's exact chromosomal condition, there are enough people with similar submicroscopic 1q deletions that we now have a general idea of what those features are. I'm hoping they're slowly working towards classifying these 1q deletions as a syndrome-- hopefully a syndrome with a really short name, as then I could just say "Blah blah syndrome with a 15q duplication" instead of reciting everything. I'm tired of watching people's eyes glaze over after they make the mistake of asking me what Connor's genetic condition is called. Here are the some of the dysmorphic features Connor has that are associated with submicroscopic 1q deletions:

Epicanthal folds-- this is where a skin fold from the upper eyelid covers the inner corner of the eye. Down Syndrome is another chromosomal disorder that shares this dysmorphic feature.

Tapering fingers-- Connor's fingers are wide at the base and taper to very narrow ends.

Inset toes-- The second toe on each foot is set up higher on his foot than his other toes

Full face-- Connor probably won't ever lose those chubby little cheeks-- they're part of his genetic condition.

Thin upper lip-- Connor's upper lip is turned under and very, very thin.

Smooth philtrum-- The philtrum is the line between the nose and the mouth. Connor doesn't have one.

Smooth nasal bridge-- Connor's nasal bridge is completely flat, which gives him that cute little turned up nose.

Here are some links for you if you are looking for more information. Not all of these are free, however-- you have to belong to the medical journals to see the full text on a couple of them. I suggest making your way to your local hospital's library if you want to see more than the abstracts-- they usually have subscriptions.

About submicroscopic subtelomeric 1q deletions:

Submicroscopic subtelomeric 1qter deletions: A recognizable phenotype?

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype

There's pretty much nothing out there in regards to submicroscopic subtelomeric 15q duplications. Let me know if you find something, and I'll link it here.

Here are some support groups for rare chromosomal disorders:

National Organization For Rare Disorders

Chromosome Disorder Outreach

Unique-- The Rare Chromosome Disorder Support Group

Um, yeah. Explanation over. Finally.

~Jess

In Which I Feel Sorry For Myself For Being Alone On Valentine's Day, Despite My Husband Sending Me Yummy Things

So the potluck went pretty well, as well as anything that's meant to be a replacement for a romantic dinner with your husband can go, anyway. The deviled eggs were a big hit-- I made half plain and half with smoked salmon and green onions. They disappeared pretty quickly.

I did manage to stop by Target today to indulge in my personal favorite holiday-- Half-Price Chocolate Day. I've eaten entirely too much chocolate this evening than is good for me, but oh well. I figure since I won't be getting a real Valentine's day next year either I'm entitled to indulge. He's going to miss my birthday, too. Poor me.

But enough whining: back to the potluck. Connor's friend C was there. C is six and he loves to make Connor laugh. He does this by pretending to hit himself in the head and then throwing himself on the floor. Connor thinks it's hilarious. Boys.

We left after about an hour-- Connor started saying "All done" about forty-five minutes in, and then he proceeded to wave "bye bye" to everyone before looking at me expectantly. I can't say I blame him-- the party was indoors in a room sort of like a high school cafeteria, and the acoustics were terrible. Add about 15 children with high-pitched, very loud voices into the mix and with all the echoes it was probably impossible for him to make out anything anyone was saying. He pulled his hearing aids out about five minutes in. I was trying to interpret for him, but it was hard to do-- everyone talks so fast and when there's four or five people involved in the conversation I just can't keep up. I didn't want to push him, so we went home.

Today Connor and I went out to lunch with some friends and then headed off to sign study group. Connor acted kind of like he wasn't feeling very good-- he was really, really quiet today and clingy. He didn't eat very well. He also asked for his daddy repeatedly. I don't know if he's just missing his daddy or if he's feeling poorly, but we'll take it super, super easy tomorrow. I still haven't heard anything from Connor's cardiologist-- and I don't expect to hear anything tomorrow as it's a holiday, but I'll keep a really close eye on him and call first thing Tuesday morning.

~Jess

Happy Valentine's Day!

Happy Valentine's Day!

Connor's been doing fine-- he had a quiet night. He's a little blue around the fingers and toes at the moment, but he seems to be in good spirits. I'm still thinking he just needs his meds adjusted-- he's had the same dosage of heart med since he was six months old. He used to do this when he was little-bitty before we figured out the correct dosage.

We're headed to a Valentine's day potluck for spouses, since our guys are all in the field. I'm off to the store-- making deviled eggs for the potluck, and I need some more eggs! I'll let you know how it goes.

In the meantime, here's Connor playing you a romantic serenade. This is from when he was about two, so his hair's a lot shorter, and he has a bit of a cold. I'd given him his keyboard while I cleaned his hearing aids, and then I had to take a video because he was so cute! Enjoy!




~Jess

Frustrating Day

So I made the mistake of bragging to Ellen over at To The Max about how I'd actually had a pretty good week. Sometimes I think God uses my life for entertainment value. "Did you hear that?" he says, elbowing Gabriel in the ribs. "She's bragging about having a good week again. Give her the chair!" Then Gabriel comes down and executes a pile driver on my day while all the other angels look on and cheer.

Anyway, yesterday afternoon after his evaluation Connor kind of got all quiet and started acting like he was tired. I figured he'd just had a hard day and didn't think much of it. This morning when he woke up, however, he was kind of blue around the mouth and at the fingers and toes. Any mom who has a kid with heart issues knows that this is not a good thing.

Connor usually doesn't have any cyanosis-- that's the blueness-- so I was a little bit worried. He didn't seem out of sorts at all, though, it obviously wasn't a seizure since he was still conscious and breathing, and he pinked up pretty quickly when I got him dressed. I figured maybe he'd just been a little cold. I debated with myself about whether or not I should take him to Family Conversations play group, but I ended up deciding to go ahead since he was pink and happy, and just to call and make an appointment with his cardiologist for the next week.

I told them at play group that he was looking a little blue around the edges and so to watch him carefully (we go off and leave the kids with the therapists for about an hour while we listen to presentations or get sign lessons) and when we came back, they said he'd had a couple of episodes and seemed to pink back up when they lay him down on the ground. He started going cyanotic again during the last song of the day, so we took him into the other room. By this point I'm thinking-- okay-- I really don't want to wait until next week to see someone. He probably needs his medication adjusted and that's all it is-- he's gained quite a bit of weight and he's more active now-- but just in case I'd better take him in. We debated on whether or not I should just call an ambulance, but by this point he was once again pink and happy, so I just put him in the car and drove down to the military hospital where our cardiologist works.

I called the appointment line on the way there and was informed that they could squeeze me in in early March. Riiiiiiiiight. I explained the situation and they said that I could either call the pediatric specialty desk directly and see if they could page the doctor or I could go to the ER. So I called the ped's specialty desk. The phone rang twenty times. No one picked up. I gritted my teeth and drive to the emergency room.

When I got to the ER, I explained the situation to the guy at the front desk. He looked at my currently pink, happy child and said, "Well, here's the deal. He's not blue right now, and we're pretty busy today, so it will probably be an eight to ten hour wait, and the Echo team will probably already be gone for the weekend. If I were you, I'd just walk in to the clinic. They should see you a lot faster." So we got back in the car and drove back around to the clinic.

When we got to the clinic, the person in charge of reception at the pediatric specialty clinic was still MIA, so we walked down to the general ped's clinic. They told me that they weren't able to make any appointments for cardiology, and not only that, but Connor's doctor was out of the hospital for the day. I explained the situation for the third time and they decide to find another cardiologist to take a look at him.

This is when things get really ludicrous. The other cardiologist comes out, and with him standing over me in the middle of the waiting room we have the following conversation:

Me: Hi! I'm Jessie, and this is Connor-

Man: He probably has arrhythmia.

Me: Um...well he's got left ventricul-

Man: I know. I read the nurse's note.

Me: (Refusing to be interrupted.) He's had some intermittent cyanosis, which is not a typical symptom for him, and it seems to cluster around periods of activity. He's also been acting unusually tired. His medication hasn't been adjusted for a while, and I'm wondering if we couldn't have you take a quick look.

Man: Probably arrhythmia. If it happens again take his pulse and see what it's doing. Then you can have me paged.

Me: Well, he hasn't had any arrhythmia before, so I was just thinking maybe we need to check his lisinopril dose-

Man: Well if he's going into heart failure there's nothing we can do anyway. Just take his pulse if it happens again. We'll have Dr. P (Connor's cardiologist) call you tonight.

And then he walked off, leaving me sitting in the waiting room in sputtering, incoherent rage.

It's not almost nine in the evening and Dr. P hasn't called-- leaving me to speculate that they probably put the page in through the computer system and not the pager system, so he'll get the message on Tuesday (it's a four day weekend because of President's Day). He's usually pretty good about calling me back, so I'll give him the benefit of the doubt. I didn't stay and insist on Connor having an Echo done for two reasons--

1) He is still being a pink, happy baby and he hasn't had any more blue episodes. We'll just take it really, really easy the next few days until we get in to see our cardiologist, and if things look any worse I'll immediately take him to the ER, which is literally a two minute drive from my house.

2) I never ever want to see that doctor ever, ever again.

Seriously. I could maybe, maybe almost sort of understand him being a little rude if I was in there, say, five or six times a day with imaginary ailments, but this is the first time I've ever done this sort of thing. Maybe things were really, really busy and he didn't have a lot of time-- then I could understand him being a little bit short with me. Fine.

But what kind of a jerk on being told that a kid with heart issues is potentially having trouble walks into a crowded waiting room, doesn't even bother to take the kid's pulse, announces "well if he's going into heart failure there's nothing we can do anyway?" and then walks off?

Bleagh.

~Jess

Evaluation!

Connor had his evaluation for school this morning. I was pretty worried about it-- I'd had some concerns after our initial transition meeting and so I wasn't sure what to expect. The school was bringing in a psychologist, physical therapist, speech therapist, occupational therapist, Deaf and HoH coordinator, and special education teacher-- none of whom had ever met Connor before-- and the evaluation was taking place in a new environment for him. For a stranger-shy kid who reacts to stressful situations by shutting down and pretending everything around him doesn't exist, this sounds like a recipe for disaster.

You know what? It went really, really well.

I only brought two people with me: Patti, Connor's Family Conversations (his Deaf and HoH program) teacher, and Julie, Connor's ST. While I could have brought the whole gang, I felt like maybe bringing in too many people would make it seem like I was being too antagonistic, so I kept the numbers on our side low. Julie works closely with Connor's PT-- they have overlapping sessions-- so she could help out with describing how he was doing physically as well as with eating and communicating in ways other than sign. Patti could cover the SEE side of the story, and I could fill in the blanks.

I guess I really felt like I needed to bring a couple of people with me because I'm so used to others showing understandable scepticism regarding Connor's abilities. I mean, here's a kid with a two volume medical file that screams PROGNOSIS EXTREMELY DIRE and I'm claiming that not only is he doing more than just breathing, which is all he was expected to do, but he has 41 signs and he's making up short sentences and following simple directions. I was expecting to have to explain this to a group of six people who were watching Connor stare at the wall, so I can't say I would have blamed them if they'd thought I was one of those mothers who thinks their child is a genius and makes stuff up. I wanted somebody else there with a degree and a more objective opinion to say-- "No, he is doing that-- I've seen him," so we didn't end up in a Michigan J. Frog cartoon.

Connor really stepped up to the plate, though. The PT started things off by getting down on the mats with him and really being hands on, which is a fantastic way to break the ice with my child. He loves to be man-handled-- turned upside down, zoomed around the room, lifted high up in the air-- and any person who will do that with him can get him to interact with them pretty quickly. It's something I will have to remember with future evaluations-- maybe if the child psychologist swings him around in the air a few times before they start testing he'll be more likely to actually pay attention.

It ended up breaking up into a really informal hour-long session-- one or two of the therapists would be down on the floor with Connor and either me or Julie or Patti, and the other people would be in groups of two or three talking about what he was doing at home, what adaptive equipment we had and what would be needed, and then after a few minutes we'd sort of rotate by some unspoken signal. Most of the people involved hadn't had a chance to look over Connor's medical file, which ordinarily would have been really annoying but I think in this case actually helped. They were open to the idea that he was doing the things that Patti and Julie and I were saying he was doing because they hadn't read all of the reasons why he shouldn't be doing them.

The fact that Connor did do so extremely well probably didn't hurt anything either. He charmed the pants off of everybody by smiling and giggling a lot, watching everything very closely, and demonstrating a bunch of signs (such as "Potty, please!"). I'd brought a sheet with all of Connor's home signs written down on it as well as a quick one-page medical synopsis. The sheet of signs proved extremely helpful because I could tell the therapists-- "See? He just signed 'potty'" and then they could look down at the sheet and see that what he'd just done and what was on the paper matched. He also showed that he knew about flash cards, demonstrated his "jumping," some of his "love butts," and stood up and sat down on command.

Though it was subtle, there were signs that he wasn't entirely comfortable with the situation. He didn't start making any noise at all until the hour was almost up, which is very unusual for my child-- he's pretty vocal. He also didn't want anything to do with the switch toy I'd brought with me-- a toy that's usually his favorite. He pulled his left hearing aid out maybe nine or ten times over the course of the hour-- something he almost never does-- so I think maybe the noise and activity was getting to him. I was so proud of him though-- he really did a great job!

Unlike the transition meeting, my suggestions were met with enthusiasm instead of "here's why we can't do that." Nobody said anything about the Deaf and HoH school being too far away, or that an aide would be an issue. The PT and OT and I got into a discussion about the different therapists and who would be the best fit for him based on his learning style. The Deaf and HoH coordinator and I had a very good discussion about home signs and how we could modify signs to fit Connor's abilities. The Special Ed teacher and I talked about how the cognitive test really was not appropriate because of Connor's motor skills (and she was the one to bring it up!), and she modified some of the questions accordingly. Strangely enough, the only one that I didn't have a great conversation about Connor with (or really any conversation at all) was the child psychologist/coordinator-- the one who had been at the transition meeting. She kind of stuck to the edges of the room. Maybe she's just really quiet.

Overall, however, things went really well. The other therapists actually asked me at the end of the evaluation if I would consider volunteering in the Deaf and HoH classroom with the other children. Craziness.

We'll have the evaluation results meeting in a few weeks, and hopefully all of this will translate on paper into a great recommendation for services, and ultimately, IEP. I'm just so happy that I can go in with the confidence that we'll be working together as a team and not fighting every step of the way to get the services Connor needs, and I'm much, much more comfortable about the idea of Connor going into this school district than I was before this meeting.

The next step: visiting classrooms. Whoo hoo!

~Jess

Dreaming of Spring

"I used to visit and revisit it a dozen times a day, and stand in deep contemplation over my vegetable progeny with a love that nobody could share or conceive of who had never taken part in the process of creation. It was one of the most bewitching sights in the world to observe a hill of beans thrusting aside the soil, or a rose of early peas just peeping forth sufficiently to trace a line of delicate green."

~Nathaniel Hawthorne, Mosses From An Old Manse

We signed up for our CSA program today, and I am so incredibly excited.

For those of you not familiar with them, Community Supported Agriculture, or CSA programs, are programs in which you pay a certain amount of money up front and buy a "share" in a farm. Then once a week during the growing season you go and pick up your box of freshly picked fruit, vegetables, and-- depending on the farm-- herbs, cut flowers, and eggs.

We chose Pigman's Organic Produce Patch-- a farm about 15 minutes from our house. If you live anywhere in the Puget Sound area, I would highly recommend them. Since Jer will be deployed and Connor eats minuscule amounts of veggies, I'm splitting a half-share of produce with a couple of friends. Beginning in June, for around $7.50 a week, I'll be getting five months of seasonal organic produce (Over 50 different kinds!) freshly picked just for me. This is such a ridiculously low price that I sort of feel like I'm getting away with something.

We drove out to the farm to check things out this afternoon, and the wonderful Jan Pigman not only gave us a tour of the farm and pointed out where everything would be growing, but she sent us home with a huge bag of freshly picked "seconds" carrots-- those that are a little too crooked to send to the store, but taste perfectly fine. She told us that we're allowed to drop by the farm any time to see how things are coming along.

I guess one of the reasons I'm so excited about this is that Connor will have the chance to see where food comes from. I do some modest front yard vegetable gardening, and a couple of the kids down the street happened to come by while I was pulling onions. The following conversation occurred:

Kid 1: What're you doin?
Me: I'm digging up onions.
Kid 1: Onions grow in the ground?
Me: Yep!
Kid 2: They have dirt on them. And they're red.
Me: Yep!
Kid 1: That's gross. Why don't you just get them at the store?
Me: Um.....those onions come from the ground too.
Kid 1: They do?
Kid 2: Eww. I'm never eating onions again.

This conversation scared the bejeezus out of me. Lord knows what they would have done if I'd shown them the purple carrots.

I don't want Connor thinking that onions magically appear in those mesh bags at the grocery store. I want him to know that tomatoes come in more colors and flavors than red and watery. And somehow I have this idea that even if he never makes the connection between the fields we visit and what goes on our table, that being surrounded by growing and thriving things will be good for him, will maybe help him grow and thrive too.

Someday, years and years from now, I want to have a little straw bale house with a thatched roof and a huge backyard garden. I want wide, paved paths with big garden beds of all shapes and sizes ranging from ground level to adult wheelchair height. I will grow all sorts of edible plants with beautiful scents and colors-- dwarf apple trees just the right height for little hands to reach the fruit, nasturtiums and pansies, strawberries and blueberries, rosemary and lavender hedges. There'll be little shady corners with low benches for resting tired little legs, and a gently sloping hill covered in creeping thyme for rolling down. Then I'll throw open the gates and let all of the therapy centers and birth-to-three programs and schools bring their children in to touch everything and play and eat and explore.

That may be an impossible dream, what with liability issues and allergies and zoning laws and money and all the other things that could stand in the way. But I can dream. And in the meantime, I can take my little one out to the farm, kneel in the rows with him on my lap and the sun gently warming our backs, and say: "Look, honey, this is a strawberry plant, and here are the flowers, and here are some baby strawberries, and here is a nice ripe one waiting for us."

See. Feel. Taste. Grow.

Live.

~Jess

Beware The Groove!

There are some fairly predictable ways that Connor's special needs affect him. And then there are some things he does that are just weird. Not in the whole medically-alarming way, though he has plenty of weird things that go on there, too (his seizures that look a whole lot like heart failure, as an example) but I mean weird as in, well, things that just kind of make you take a step back and go, "Huh. Okaaaaaaaay."

Take waking up as an example. My child usually has no problem with transitions, which for a kid with his variety of sensory issues is actually pretty awesome, but waking up after a nap is a whole other story. Here's Connor's wake-up routine:

First of all, he has to wake up on his own. If someone else wakes him up, he gets what we call the "shakes"-- he looks like he's really, really low on blood sugar or perhaps going into withdrawal from lack of chocolate pudding. His whole body trembles. We had to tell all of his babysitters about these, because the first couple freaked out and thought they were seizures. He will be completely uncoordinated for at least the next half an hour. After he's awake enough to realize that it is Your Fault he is not asleep any more, he gives you this surprised, incredibly hurt look, and then becomes The Saddest Boy The World Has Ever Known. For the rest of the day. As a result we try our darndest never ever to wake him up while he's asleep, because it ensures crabbiness until the next time his head hits the pillow. Don't throw off the groove, people. Beware the groove.

When he does wake up on his own, which is thankfully most mornings as I try to schedule activities in the afternoon, you never, never go in and pick him up if his eyes are open but he's not making any noise. Connor has to lie in bed after he wakes up for at least twenty minutes or Sadness Occurs. I have no idea why this is-- he just seems to need to get his bearings or something.

Case in point: Yesterday afternoon Connor decided would be one of those extremely rare days when he takes a nap. Usually he just lies in his crib for an hour and talks to the ceiling. Anyway, I walked past his door and saw that he was awake, and assumed I just hadn't heard him talking to himself. I should have guessed he wasn't finished with his warm-up time, because he didn't act like I was the most exciting thing he had ever seen in his entire life when I walked in. I picked him up, made him an afternoon snack, and he reacted like I was trying to kill him. Also he had no bones in his body. Imagine trying to feed an extremely unhappy squid strained peas and you'll have a pretty good idea. I picked him up again and he clung to me and cried. I tried reading him a book. I thought I was reading If You Give A Mouse A Cookie, which doesn't to my mind have much of the air of tragedy about it, but Connor was evidently hearing chapter XXXI of Anna Karenina, the part where she says "God forgive me everything!" and throws herself under a train, because every time I turned over the page his little lip would tremble and then he'd lose it again.

I set him down on the kitchen rug for a second to make him up some milk. Here's the face that shows exactly what he thought of that idea:

Finally after about forty minutes of this nonsense, and it took me this long only because I am a dense idiot, I realized what must be bothering him-- I had thrown off his groove. He had been wanting at least another ten minutes of lying in bed talking to himself, and here I was rude enough to interrupt that. I put him back down in his crib, and not only did the kid immediately stop crying, the little stinker actually smiled at me. Then he went back to staring at the ceiling, entirely ignoring me, and making his little cooing "I'm just starting to wake up but I'm not ready to get out of bed" noises that I had so rudely interrupted forty-five minutes before.

Ten minutes later, he started making his "hey Mom, I'm ready to get up" noise, I walked in, he reacted with his usual flattering excitement, and then he was not only fine, but perfectly happy. I set him down on the rug to get that milk again-- keep in mind that this is not TEN MINUTES after setting him down on the rug resulted in the picture above, and this was his expression:

Huh. Okaaaaaaaaay.

~Jess

These Are A Few of My Favorite Things....

Did I mention that my husband is a darling? Yet another package arrived for me today, this one from my favorite company in the universe, SpecialTeas. He sent me a couple of different types of tea, including Connor's personal favorite-- Jasmine Phoenix Pearls (no I don't let him drink it-- he likes the smell). My husband knows me very, very well.

I would like to say that this is a stock photo, but sadly, it's not. At last count I had somewhere around fifty different types of tea and tisanes. This is well past a hobby and probably into an obsession. I have read books about tea. I have been to tea tastings. I can look at a tea called Dari Singbulli Special Finest Tippy Golden Flowery Orange Pekoe 2nd Flush Silver Tip and understand what that means- that's how bad I am. I can't even claim any of those teas are Jer's-- he drinks coffee, and he drinks it the way I drink tea-- seriously. The man hauls his grinder and espresso machine to work every Monday and hauls them back to the house on Friday, which is also when he roasts the beans for the next week in our kitchen with all the windows open. He usually sets all the fire alarms off anyway.

While Jer and I have a little love affair with our respective vices, Connor puts us both to shame. Connor is not addicted to coffee or tea. Connor is addicted to chocolate pudding, and while he is rather unpicky about its origin and preparation, he makes up for that in passion, eating and simultaneously bathing himself in it with a type of single-minded focus that any epicurean would recognize as true appreciation of food. You have to be careful of your fingers when you are feeding it to him. He has a tendency to lunge for the spoon. If he could tell you about it, he would probably scoff at the idea that pudding is just to be eaten. Pudding is to be experienced, and he does his very best to appreciate its every nuance, utilizing it in pieces of performance art that are stunning in their sophistication and complexity. Either that or he was involved in a vicious fight with some sort of custard monster. I'm pretty sure the poor monster lost.

~Jess

Medical Monday: Duane Syndrome

It's that time again: Medical Monday! I blog each Monday about a different condition Connor has and then post a link to it on the side bar as I go. This way people can get a better idea of what Connor deals with on a daily basis and his family and friends can understand what I'm saying when I call and spout ridiculously long medical terms.

DISCLAIMER: I would like to emphasize for those people who stumble upon this blog that I'm not a doctor, and I have no medical experience other than the approximately 900 doctor's appointments I've been to in the past two years. I just know about these things in relation to how they apply to Connor and not anyone else's child, so if you want accurate info on this sort of thing, please please please ask your doctor or go to the medical library instead of looking it up on the Internet. The library is your friend.

So today's topic is Duane Syndrome. What is going on in this picture? Other than total frosting decimation, I mean. You may notice that what we call Connor's "wonky eye" (very technical term there) or "wonkavision" (because we aren't Roald Dahl fans in this house at all) is clearly visible. What most people think when seeing this picture is that Connor is looking straight at the camera and one of his eyes is turning in. Actually what's happening is the opposite-- he's looking up and away from the camera, and it's the eye that's looking straight ahead that's the problem. Connor has Duane Syndrome.

There are six muscles responsible for the movement of the eyes. Two of them control the horizontal movement-- one for inward movement, and one for outward. Each eye muscle receives its instructions from one of three cranial nerves. In Duane Syndrome (DS), cranial nerve VI, also known as the abducens nerve, is either missing or malfunctioning. This nerve sends the instructions for the outer movement of the eye.

There are three main types of Duane Syndrome. Connor has Type I DS, which means that he can move his eyes inward, but not outward. When Connor wants to look at something to his right, for example, his left eye will turn inward as it should. His right eye will get to about mid-line and then won't go any farther. In order to keep his depth perception and look at something with both eyes, he has to turn his head. This means that he's unable to track something unless it is fairly slow, because he has to turn his head to keep it in both eyes in line. (Try doing this sometime-- look straight in front of you and turn your head to watch something instead of your eyes. It's exhausting.) It also causes problems because people automatically align themselves with the eye that's straight ahead and think he's paying attention, when in fact the dog or mime in a box or whatever it is he's actually trying to look at is off to one side. About 80% of people with DS have it in only one eye. Connor is one of the "lucky" 20% that has it in both. In his case, his left eye has a little more movement than his right.

There's not much they can do for DS. Surgery isn't going to help when it's a problem with the nerve and not with the muscle-- usually the only reason surgery would be involved with DS is to correct a head tilt caused by someone trying to keep their eyes aligned. You can't really "retrain" the problem either by using a patch, for the same reason. Connor actually compensates pretty well.

Here's some good links involving Duane Syndrome:

National Human Genome Research Institute

Orphanet: Duane Syndrome

American Association for Pediatric Opthamology and Strabismus

~Jess

Grow Connor Grow!

All right, I'm pretty sure the kiddo is going through a growth spurt. I should have recognized the signs-- he's had a couple before, and they usually start with him waking up in the middle of the night convinced he's starving.

My child, who it's usually a struggle to get any food into at all, had somewhere around 1800 calories today. This is a ridiculous amount of food for a kid his size, but since he's not exactly in danger of becoming overweight any time soon, I rolled with it. Any little extra fat pads we can squeeze onto those skinny thighs in between the times that he goes on hunger strike are great. I mean, the kid is almost three and he weighs a grand total of 22 pounds. I think sumo wrestler is not going to be a good career choice for him.

Other than being ravenous, he was pretty quiet and rather grumpy most of the day-- which was pretty much the mood I was in too. I like my sleep. He lasted longer than I thought he would, though-- the grand meltdown in which Connor announced that he had Had Enough occurred at about 4:30 in the afternoon, after he'd fallen asleep in the car and I had to wake him up to take him inside. I fed him his dinner and he was conked out by 5:30. Bliss.

I then took a ridiculously long bubble bath, had a cup of tea, read for a little bit, and turned out the light at the pitifully early hour of 7:30, only to be awakened at 8:30 by what sounded like an air raid siren going off in Connor's room. Connor was Not Pleased, and he was using every square inch of his lung capacity to tell me so.

Guess what he wanted?

~Jess

You Are Getting Very Sleepy....

Do you know at what time I took this picture? Midnight. Connor has apparently decided that sleeping is for wimps.

I apologize if this is rather incoherent, but I am very, very tired.

He's going through a phase where he tries to put off bedtime as long as possible right now. Every night we read a story, and he asks for more books. Then he needs more water. Then suddenly he has to go potty. Then he needs to snuggle. He tries these delaying tactics as long as he possibly can, but it's all a sham, and usually when we put him down he's out within thirty minutes.

Not tonight. Tonight I put him down around 8:30, which is later than his usual bedtime anyway, and he looked at me and signed:

"No! Eat!"

Assuming this was one of his usual delaying tactics, I told him, "No, honey, it's bedtime."

Then I kissed him and left the room. He didn't cry or protest. He just decided to not go to sleep until he got what he wanted.

I have this issue where I can't fall asleep until Connor is asleep. Does anyone else have this problem? It's simply physically impossible for me to go to sleep while he's awake. After lying in bed staring at the ceiling and listening to him sing for about an hour, I went back in to his room.

"What do you need, baby?" I asked.

"Up!" he signed. I kissed him and told him to go to sleep.

After listening to him yodeling happily to himself in his crib for another two and a half hours, I finally gave up and went back in. He gave me a big grin when he saw me. Victory was his!

"Up!" he signed.

I gave in and brought him into our bed. This is our fool-proof, never-fails way of getting him to sleep. Usually he conks out within five minutes. Instead he rolled over to look at me and started yelling for my attention. My child is nothing if not persistent.

"What, baby?" I finally groaned after it was obvious that he was not going to sleep any time soon.

"Eat!"

It's now 12:54 at night and I just finished feeding him most of a bottle, which is what he wanted in the first place. He's back in his crib, still giggling, talking to himself and listening to Peter and The Wolf on tape for the fifth time. When I put him back down, he grinned and signed: "No!" I'm not sure how long he's planning to stay up. Maybe he's going for some kind of record.

Thank God I don't have anything big going tomorrow (or I suppose I should say today), as I'm going to be good for absolutely nothing.

My son isn't stubborn at all, is he?

~Jess