Friday, February 13, 2009

Dallas Visit

We had a big ol' trip to Dallas today, which entailed going to Medical City to visit with the geneticist and the ENT docs. I was dreading going to see Dr. S (geneticist) because last time we saw her she was all doom and gloom, blah blah. It was an unpleasant visit, to put it mildly. But this time I came prepared with all the genetic knowledge I have been able to acquire (not much, by the way), and I got some answers. The long and the short of it is we still don't know if Dakin has two mutated copies of his IGHMBP2 gene or if it was just one. And it will evidently be a while before we are able to find out--the lab in England (they don't test for SMARD in the US...SO annoying) is supposedly getting the other test to check soon. Daddy and I can get tested, though, and that might answer the question quicker. Guess we'll see. There are positive and negative aspects to only having one mutated gene, so it's a real Catch-22.

Dr. H (ENT), whose visits are always very short, said his stoma (the trach hole) looks OK. That was good news, since I was a little concerned that they would need to open it up more. Not at the moment, thank goodness.


Victoria Strong said...

So glad your visit was a relatively good one, but wish you didn't have to be doing those types of visits at all.

Where in Texas do you live? Did I tell you my family is from Palestine originally? And I was born in Dallas.

Keri said...

Sorry you weren't able to get all the answers you were looking for. I know how mentally straining doctors visits can be. Yet, glad to hear things checked out okay. Especially with his ENT. Hugs to you and your precious family!