Friday, November 06, 2009

One of a Kind


By Susan

Most of the time he's an inordinately happy little fellow. He scoots around the house with a contented look on his face, and if you're lucky, once in a while he'll flash one of those gap toothed grins that lights up your world, and makes you chuckle in return. He looks a little like that rusty old tow-truck in the Disney animation "Cars" and you'll even hear him affectionately called "Tow Mater" sometimes.

When it comes to cuddles, there's not a soul that rivals him. I stopped in there tonight on my way home, and his mommy, Beth, laid his sleeping body on my chest as I reclined in one of the lazy boys in their living room. His round head, with just a hint of golden fuzz beginning to appear, nestled into the hollow of my shoulder and I was instantly in heaven. I soon drifted off to sleep myself.

His head is the normal size for his 15 months, but his body just hasn't grown. He weighs only 16 pounds, not even double his birthweight when he should be triple that by now. He sits beautifully if you set him in that position, but he is unable to get himself there from a lying position. He should be pulling himself to stand by now, and toddling all over the house, but those milestones are months away yet. If he reaches them at all.

But we love him. Oh, how we love him!
He's been a concern to his mom and dad, and to all of us. His tiny body has been the subject of poking and prodding, and MRI's and EEG's and bloods tests and all manner of medical investigation, trying to figure out why his growth pattern and his development isn't keeping pace with the charts in the doctor's office.

Today, after months of investigation, the diagnosis finally came down.

"Let's just call it, 'Owen's Syndrome' for now," said the genetecist. "It's that rare. He's one of a kind."

It turns out that a sample of his blood, sent to a one-of-a-kind lab in Spokane, Wasington, has revealed a genetic abnormality under their hyper-microscopic scrutiny. When his chromosones were joined at the time of his conception, a few genes were dropped in the 20th chromosone. "There was," the doctor explained, " a micro-deletion of chromosonal material, when his DNA was formed."
There's no telling just yet, what that will mean in terms of his growth and development. Not even the most learned doctors can predict what he will look like, or what he'll be able to do. He's absolutely unique. One in six and a half billion. And we all think that's pretty cool.

The geneticist, Beth told me, seemed to have a little trouble with the fact that she and Mike took the news completely in stride. There were kleenex boxes placed strategically around the consultation room, which gave her the idea that a lot of tears are shed in that office when parents were informed of the difficulties their child might face.


"He's still Owen," she told him. "We'll take it one step at a time, watch who he turns out to be. We will deal with the challenges - if there are any - as they present themselves. The fact is, we love him. He is who he is, and nothing will ever change that. He's very special."

Owen, I think, is a very blessed little boy.

And so are we.

3 comments:

Marilyn said...

"Owen's Syndrome." Something about that name seems rich in meaning!

Oh, he is so sweet! Thank you for sharing. You can count of him being kept in my prayers as we have some familiarity with chromosomal deletions here and now, every time we talk about it, OWEN will come to mind.

God bless you all. He IS a very blessed boy.

Belinda said...

Owen certainly came to the right family. As Marilyn said, he is a blessed little boy. To be accepted as "still Owen," is a great gift.

Many of us would count ourselves blessed to be so accepted. He is surrounded by love and welcome, and by brothers and cousins who will be blessed by his uniqueness.

Suz said...

What a beautiful post. Owen is fortunate to have such a loving family. He has such a sweet face and I am sure that God has great plans for him. You and he and his parents are in my prayers.

Keep us posted.