Tuesday, August 12, 2008


Its still over a week away, but being that this is the longest we have gone between visits, my anxiety is already starting to build.

No, these aren't visits from my in-laws. Or from the furnace repair man. I wish! These are visits to my youngest's ophthalmologist. You see, she was born with a rare eye disorder called bilateral asymmetric uveal coloboma. She has an iris coloboma in one eye and chorio-retinal colobomas in both eyes.

She's a very lucky kid (no joke - she once won a $6,500 playhouse!). So I just said she has this rare eye disorder and then I said she is lucky!?! Many kids that are born with uveal colobomas have wide array of birth defects which has been named CHARGE syndrome. Thankfully, she does not have CHARGE. Many kids with uveal colobomas have very little or no vision. Thankfully, she has adequate vision. She is truly blessed. The little peanut with the thick glasses even kicked some butt in TBall this year. Never judge a book by its cover!

So why the anxiety? There are still some unknowns. She has two cataracts that we have been monitoring. Fortunately they have not grown. What will school be like for her? Will she be able to drive? Could her children inherit this disorder? Will her children be blessed with adequate vision? I'm usually a "take 'em as they come" kind of person, but leading up to her doctor appointments I get myself a bit worked up. I just want to know.

Hopefully next week will come and go and I will wonder again why I stressed over the appointment. I really don't want answers to some of these questions right now - what if they're not the answers I hope to hear? And I definitely don't want more questions!

But, yes, we really do want answers. Even just some insight. We have decided to work with the wonderful people at the National Eye Institute, part of the U.S. National Institutes of Health and participate in their research study for families with uveal colobomas. While this means we'll all have to go through a thorough eye exam and a blood draw, hopefully we can help answer some of our questions and be a part of finding those answers for other families that struggle with this disorder much more than we do.

1 comment:

Heidi said...

This is quite funny, as I recently SCOURED the internet in search of a solution for the same problem.

Guess what I'm just about to do? Run into the kitchen and set some traps!