Thursday, May 15, 2008


I just got off the phone with IUPUI/Riley Genetics department...would you believe that the results of Owen's skeletal survey are FINALLY in???

I'm nearly shaking and could just bawl my eyes out (and I have no idea why!).

Here is what the sweet Genetic counselor said (as much as I can recall anyway, in my disbelief that it was her calling).

She started off by apologizing as Owen's results were incorrectly filed and had apparently been in for "a while"-ugh.

So, she began by saying that this specialist who studied Owen's skeletal survey (which is a series of X-rays of his bones) did not find enough markers to definitively diagnose Owen with a skeletal dysplasia (what!!??!!)but he did find a few things that were abnormal...specifically 2. He stated that Owen has a few mild changes to his vertebral body (which is his spine) and to his iliac wings (abnormal rounding of his pelvis bones) and he came up with 2 diagnoses that would possibly fit these findings (don't get too excited, Owen doesn't fit the Dx) called N Syndrome and Lin-Gettig Syndrome. Now I only put the links in for those of you who can't help yourselves but to research this (like me:-) but I can save you the time and tell you both of these syndromes have some pretty crazy stuff at their hallmark (including profound mental retardation). So, it is safe to say Owen does not have these syndromes...if the doctor would have picked a syndrome characterized by excessive dancing, excessive tantrums, excessive cuteness, and being a picky eater, I'd be saying BINGO! So, I guess I'll have to make up the name of Owen's uniqueness and call it the O-E Syndrome (which I had to look up and make sure it wasn't some crazy ailment-it's not, so I officially declare that my Owey has OE syndrome-which is best noted by his cuteness!

All of that to say, we learned nothing-really. I bet if you took one hundred "average kids and did a skeletal survey, at least a couple would have some mild differences that could have a syndrome associated to them (all while seeming perfectly normal and healthy).

One more thing of interest, the genetic counselor did end our conversation by asking me about the we're gettin' some where. I've always wondered if Owen's differences had something to do with my pregnancy (not that it's my fault) or the placenta or something (you might remember that his umbilical cord had the strangest look ever-it was very thick and SUPER coiled and even the Neonatalogist thought is was unlike anything she'd ever seen-I believe we were incredibly blessed there was no cord accident, which is when the cord get knotted off and blood flow ceases and the baby dies inutero. So, I did some fine Nancy Drew style detective work and they could be study the pathology report of my placenta this very minute! Which, I will confess-I believe will also end up in a dead end but deep down, I believe there was something not quite right there and thus, we have Owen who is quite PERFECT!

So, that's it. I feel better;-)

It could be that Owen is in bed and TJ and Jake are at school all, what a difference that makes;-)


Kim said...

Maybe Owen is just a tiny little dude for right now. It must be frustrating. I am interested in your placenta studies if they happen! :-) I agree though-Owen is guilty of being SUPER cute.
I missed your comments on the Idols this week!

Andrea said...

OE Syndrome sounds fabulous! I think all parents should have a child with it! How frustrating is it not having an answer, though. I hated the wait with Evan, just because I wanted to know. To know what to look for, to know how to react to others, to know what the future holds. Even with a diagnosis, I still don't have the answers!

Candi said...

It is so frusterating when they can't give you straight answers but a relief at the same time. I agree that Owen is just perfect and you can leave it at that. He is adorable and he has an amazing mom!


Katie said...

Owen is perfectly perfect! I love that you came up with his own syndrome of being just too darn cute!! Sometimes not getting an "answer" is good...especially when nothing is wrong with him..just an adorable little boy and you found the right people that love little boys! lol

Anonymous said...

I would keep him. He is kinda cool.
Hope to see you all soon.

Jennifer said...

I should be a doctor. I diagnosed perfect immediately when I saw him.