Four Eyes and Proud of It

Well... after much kicking and screaming, Corban drug me in to the doctor's office this week to pick up his new glasses. I told him I didn't want to have to deal with one more thing and that he already had enough equipment on his body, to which he replied, "Mom, get over it. I need these."

"Okay, okay...."

So we went and tried them on. Once he finished trying to rip them off his face, he began to look around. And then he started to smile. And then he started to laugh! He could see! Ha!

For the first time, he could see my face, he could see his hands... He could see everything up close that has been but a blur to him his whole life. Wow. I guess I didn't realize how bad it was, until I saw how much of a difference the glasses made. Such a difference!!

So, now that we have one extra thing added to our long list of Corban gear, I have but one regret--that we didn't get them sooner!

  Couldn't you just eat him up??!?

The second pair...

And here he is, rockin' them out on video.

Many Expeditions

Well, I haven't updated the blog in a while, because, to be honest, I haven't had any earth shattering news to share. But that is OKAY!!! Earth-shattering is bad. Hum drum is good.

But that's not quite accurate. Corban has been doing some pretty amazing things lately - EATING, the first and foremost! He has ventured though broccoli cheese soup waters to lasagna mountains to pot roast caverns to fields of luscious chicken noodle soup. In all his wanderings, his mother makes sure to carry a blender with her, to aid in his many expeditions.

His occupational therapist has also been assisting in his endeavors, with all the latest travel gear. Blue lip tape? They say it's all the rage.

He's been awfully busy lately with his rigorous exercise routine and has little time to sign autographs. Though he apologizes for the inconvenience, he says he's willing to make a guest appearance for anyone genuinely interested, as long as his mommy gets to come along.

The protein shakes we've been feeding him (haha) have given him mounds of energy to spend on doing whatever his heart desires. Like hanging out in the excersaucer, for one.

And of course, he is not alone in his plot to take over the world. His big brother and sister help him in every way they can (which usually involves some kind of torture that will ultimately make him a stronger and more courageous individual).

Torture like you've never seen. Torture beyond human imagination. Torture to stop all manly men in their tracks from the sheer horror of it all.


Hairbows.

My Checklist for the Week

Let me tell you, some weeks are crazy and some are just plain insane. Last week was just plain insane.

On Monday:
Met with our Occupational Therapist to brainstorm once again how to feed Corban, since he a) aspirates on thin liquids and b) won't eat thick ones. Check

Deal with severe bouts of constipation, including crying, screaming, turning red in the face, etc., and agonize over how, what and when to feed this child. Check 

On Tuesday:
Take all 3 kids to Corban's ophthalmologist appointment to find out our 14 month old needs GLASSES. Check

Perform "surgery" on my baby to get him to poop, and get stool samples for the pediatrician, to test for blood. Check

Notice after 5 o'clock that I missed a long awaited phone call from our geneticist. Check

On Wednesday:
Call geneticist first thing in the morning and learn that Corban does not have the typical gene mutation for Freeman-Sheldon Syndrome and that they will keep on testing his genes for other variants. Check

Pack a lunch (and all 3 kids) to see Corban's upper extremities orthopedic doctor. Get halfway there, realize I forgot his milk at home, turn around and arrive at appointment 20 minutes late. Check

Check in, feed the kids, then see if we can break for Corban's 2 o'clock appointment with Orthopedic Services just down the road. Wait for doctor to adjust helmet so it doesn't create a ridge in the top of Corban's head anymore, along with a bright red spot on the side of his head. Check

Rush back to see his orthopedic doctor, only to sit there and wait for another couple hours. Finally see him, receive no new news, then load up the crew to head home after being out for 6 1/2 hours. With all 3 kids. Check

Collect more stool samples for pediatrician. Check

Remember to call the medical supply company so we don't completely run out of g-tube bags and find ourselves up a creek without a paddle. Check 

On Thursday:
Wake up to the sound of a knock at the door, quickly throw on some presentable clothes and greet the medical supply company delivery guy, with a smile (haha, not really). Check

Go to pediatrician appointment and discover that 3 out of 4 stool samples tested positive for blood. Check

And that he has a double ear infection. Check

Head to pick up his antibiotic and on the way, get a phone call from the GI doctor's office with an appointment time and another prescription medication for Corban to take. Check

Get Corban home for a SHORT nap, then head back out again and break all speed limits to make it to the lab before it closes at 5:00. Barely Check

Get a large vial of his blood drawn from his tiny little veins for the GI (gastrointestinal) doctor next week. Check

On Friday:
Brainstorm about what could be causing the bleeding, about double ear infections, about alternating medicines, how to get him to eat, and swallow studies, and bottles, and helmets, and hand splints, and constipation, and therapies, and endless doctor visits, and sleepless nights, and smiles, and baby laughter, and funny faces, and how all the troubles of this crazy life we have, seem to fade in light of the joys we receive. Check

Swallow Study Woes

Corban had his swallow study today. It was much like the day we went in for our ultrasound - starting out with nervous hope (that the test would show everything was fine) then ending with all hopes being dashed upon the rocks of reality.

Everything is not fine. He failed the study in more ways than one. He has so many different things to work on that it's hard to know where to start.

He aspirated rather quickly, which is not a good sign, especially given his age. It means this problem will not be going away anytime soon. And it means he's probably been aspirating all these months of feeding him. He just does it silently (without coughing).

The lady who conducted the test was amazed that he hasn't gotten pneumonia or any other respiratory infections yet, but said this was probably due to the fact that he's been on breastmilk (win!). The enzymes in the milk work at fighting bacteria, so if it hadn't been for this, he probably would have had multiple infections by now and would have been in for the test a lot sooner.

So, what does this mean? I don't really know.

I know it means we have another gigantic mountain to climb. It means we have another long road ahead of us; only this time it's not orthopedic. It means we have yet another complexity factor shoved into our already complex picture. And it means I might have a nervous breakdown. Or two. Or three.

Trying to remember Isaiah 40:30-31, "Even youths grow tired and weary, and young men stumble and fall; but those who hope in the LORD will renew their strength. They will soar on wings like eagles; they will run and not grow weary, they will walk and not be faint."

Not feeling it. But praying for it.

Five Geneticists. One Cool Baby.

Many people have been asking the last couple days, "so, how'd it go with the geneticists on Friday?"

While I'd like to say, "it went splendidly and we came away with a definite diagnosis for Corban," I can't. We still don't know what his underlying condition/syndrome is. But we did draw FIVE top geneticists from all around the country together in one room to wonder over our little boy.

The line-up begins with Dr. Judith Hall, a geneticist/pediatrician who has studied arthrogryposis for over 40 years and is famous for her work on the book, Arthrogryposis: A Text Atlas. Next we have Dr. Michael Bamshad, from Seattle Children's Hospital. He is currently one of the top guys, if not the top, researching birth defects and causes/syndromes behind arthrogryposis. Then you have Dr. Ken Jones, of San Diego, California. He is considered to be the father of fetal alcohol syndrome, as its discoverer. Then there's Dr. Art Aylsworth of Chapel Hill, NC. He is also known for his work regarding birth defects, with over 40 years experience under his belt. And lastly, Dr. Roger Stevenson, who graciously made this meeting possible for us.

 

And if you're thinking, "Wow! All these important people gathered from all over the country JUST to meet Corban." Well.. they didn't. They were attending an annual genetics conference just a couple hours away from us. But it's rather uncanny how the conference (which is held in various locations all over the US and Canada) just happened to be in our area this year. And that Corban just happened to have his yearly check-up only one week prior to the conference. And that his geneticist just happened to have the sway to get all these important people together at the last minute. And that they just happened to have a break in the conference Friday afternoon to allow them to meet with us for an hour.

All that just happened? Hmm. I'd say that was the Lord, once again making a way for us.

So, what was the consensus of the meeting, you ask? I wish I knew! With 5 geneticists, there were about 5 different opinions. Dr. Stevenson and Dr. Bamshad want to test Corban for Freeman-Sheldon syndrome (or Sheldon-Hall syndrome). Dr. Hall thinks Corban has a connective tissue disorder (possibly Beals Syndrome). Dr. Stevenson suggested that maybe he has TWO syndromes, and Dr. Jones thinks he has something completely NEW!

AHHHH!!

So to say there was any kind of consensus... ? Uh, not really. But, we do have a few options, starting with getting samples of our DNA and sending it off to Dr. Bamshad in Seattle. If he can't find anything, then we'll most likely get a muscle biopsy during Corban's next surgery. And if that's inconclusive, then we'll just keep knocking on doors. And praying. Because that's really all we can do anyway.

The Road Ahead of Us

Well....

Corban and I just returned last night from our 7th trip up to Philadelphia. We had a routine check-up, traveling was rather smooth, so overall it was a decent trip.

It was a sobering journey though, as I was reminded "this ain't over yet." Corban has come SO far over the past year, and I was busy reveling in his birthday and all the progress he's made, that I kind of forgot how far we still have to go.

While his feet are looking amazing, it doesn't mean they won't ever need further correction. There's a chance he might have to have pins put in his feet again, later on down the road.

His hips are a MESS. His hips are still dislocated and the ball joints are backwards (from when his femurs broke at birth. They healed in the opposite direction). His hips should be corrected within the next 6 months or so and his doctor informed me on Monday that he will need to cut and remove a section of Corban's femurs so he can fit the hips into socket. So, his femurs will always be short. :(

Corban also has a little bit of scoliosis in his upper spine. Not super serious now, but something we'll need to keep an eye on as he grows.

And his knees. Oh! His knees...

They are bothersome. His right knee is subluxed, so the bones don't line up like they should. His left knee is also subluxed, but with an additional rotational craziness going on. So, they are both a mess, and will need correcting down the road. Doctor says probably when he's around 4 years old, he will need external fixators. Which in my book, stinks!

Have you seen these things? Can you imagine having this done to your leg? Ugh! Not what I want to see for my baby! I hate it.

I was so ready to move on. To get his hips corrected and move on. But it doesn't look like this road is ending anytime soon. We are not in for months of surgeries, but years. Years and years. And years.

Sigh.

Happy Birthday, Corban!!!!!!!

Now that Corban's first birthday has finally arrived, I've been scratching my head as to how I could even begin to tell you what this past year has been like. And I've decided... I can't tell you.

But I can show you.

Here goes...


Corban - Our Gift Dedicated to God from Corbani on Vimeo.

PS. For those of you who are a bit less technically savvy... If you'd like to watch this video full screen, click on the icon directly to the left of the word "vimeo."