Tuesday, August 28, 2007

What's wrong with Owen?

I've received this question frequently lately so I thought I would post on the subject just to make a more clear update, but wordy, no less.

Of course, as Owen's mom and biggest cheerleader, I say "There's nothing wrong" with Owen. But, I will post medically as much as possible and only interject my opinions here and there.

As a recap, Owen was diagnosed in utero around 24 weeks with growth problems, that as my pregnancy progressed, Specialists diagnosed him via ultrasound with a likely fatal/lethal skeletal dysplasia (meaning not compatible with life)-and actually at one point went as far as to say that they were 99% sure that he would have dwarfism.

Once born, Owen was small (2 pounds 13 ounces and only 14 inches long) at 32 weeks gestation. He should've been over 4 pounds at this gestation. He was diagnosed at birth with SEVERE IUGR (intrauterine growth restriction) but with head sparing, which meant essentially, his head got all the 'good stuff' and his body was denied....so the result, a baby with a bigger head and smallish body. Sounds freakish, huh? Well, newborn babies are a bit alien-like anyway, but he was precious.

Since being released from the NICU as a "grower" he has seen countless Specialists and had countless tests. What we know is that it doesn't appear he has a skeletal dysplasia at all. As he has grown, he has not "caught up" nor "stretched out". His endocrine type tests for hormone stuff were pretty normal.

He had a test called a "skeletal survey" which is a full body x-ray that was looked at by at least 2 geneticists so far. They see no signs of a skeletal dysplasia (as above) but one MD did say Owen's spine showed subtle signs or possible signs of a "metabolic disorder".

So now what? What metabolic disorder? Answers here, frankly, stink.

More waiting. No clue "what" metabolic disorder-there are thousands and I have no way to even look up anything. I tried searching "spine" and "metabolic disorder" and nothing came up. I asked the genetic counselor and was told she didn't know. So we are waiting for results of MORE TESTS. I also have been waiting on "the big dogs" from Cedars Sinai in CA to see Owen's x-rays and report what they believe is "wrong", but get this....the x-rays were NEVER sent!

So very, very frustrating. When I was told this "error" was made, I was also told, they were just going to "wait" to send them now until the metabolic panel results come back-uh, no. Not what "we're" going to do. SO, I pushed for the x-rays to be sent anyway (a possible 6 month wait for results, been waiting 4 months already-now another 6 months possible, thanks!).

So , what's wrong with Owen? He's small. That's about all I actually know. He has some mild developmental delays which are typically seen with preemies anyway. We don't know if there is anything "wrong" at this point.

Owen is Owen. He's as cute as can be and about the size of a 3 1/2 month old for 50% weight according to the CDC growth charts, and a 3 month old for length for the 50% percentile (CDC growth charts). His head circumference is about the size of a 5 month old, again in the 50% percentile with CDC growth charts. All these stats are from his 9 month measurements, but he is almost 10 months old now.

He's doing the stuff he should be doing mostly. He is very social and VERY HAPPY and SMILEY!!! He laughs, interacts, etc. We have a physical therapist and occupational therapist come to our home to help him with things like sitting, crawling, working with his hands, eating, etc. It's just once per week for each discipline. It's like concentrated playtime for an hour.

I am seeking a 2nd, uh, er-3rd opinion at the end of September with another geneticist in Indy, well, at least unless, his metabolic tests come back conclusive in the meantime.

Personally, I am so VERY, VERY, VERY thankful for him JUST HOW HE IS. I wouldn't change a thing. God planned this whole "chapter"-and isn't He an incredible Author? Owen has touched so many people whether it be through the incredible journey, his beaming smile, etc.

So, to answer the question: What's wrong with Owen? Not one thing. He's perfect. He's our gift from God. Whatever challenges or difficulties we'll face, we'll try to never treat him like he has things "wrong". Lots of people face challenges far worse than being small. I pray (of course) they never find "anything" wrong. Owen's just small-and maybe he'll always be this way. We love him and find his "smallness" to be a "small" part of what makes him special and unique. Someday, when he reads this blog, I hope he thinks to himself, "wow, my family loves me so much and think I'm the coolest kid ever!"


Anonymous said...

I agree. I think he's perfect!

Jennifer/Owen's grandma/Cat's mom