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.