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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.
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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.