Getting Closer...

I have two reasons for my delay in posting about our TCH genetics visit. One, I was at a wedding this weekend in San Antonio. A good friend of mine from college was getting married, and my mom and I drove down for it. Jason and the two grandpas kept the kiddos. Let's just say that it took all three of them and leave it at that. I will say, however, in their defense, poor little Camille was sick yet again, which did not make things easier.

The other reason for my delay in posting is that I have been wracking my brain for what to write about the visit, and have come up with virtually zero. We feel like so much happened, but then when we start to talk about it, we can't think of anything to say. It's weird, but then again, so is this whole situation.

Speaking of weird, I guess if I am going to tell the story of our visit, I am going to have to start back at last Tuesday when I received a phone call from the endocrinology office with some very weird test results. If you'll recall, our pleasant endocrinologist had boldly proclaimed that he thought what we were there for was nothing and that there was absolutely nothing endocrine related that could help us figure out Camille's central diagnosis. Uh, yeah, he was apparently very wrong about that.

You see, the results we got on Tuesday are the only truly "abnormal" results we have gotten on Camille so far. We have known that she has something going on, but no objective test has been able to show us much so far. These results were from the blood work the endocrinologist took to measure Camille's hormones to see why it appeared that they were overproducing. One of these hormones, DHEA, came back off-the-charts-high. Basically, a baby Camille's age is supposed to have a DHEA level of 19 to 42. Hers was 780. Yikes.

The kicker is that no one knows exactly what that means. It could still be a genetic condition in which the adrenal glands overproduce, but that genetic condition could not account for Camille's other issues (the small head, low birth weight, failure to thrive, feeding issues, etc.). If she did in fact have this genetic condition, then that would mean that she would have TWO genetic conditions--one to account for the hormones, the other to account for all the other stuff. How incredibly freaking unfair is that? Apparently, though, it's possible.

The other option on the table for a possible cause of this is that she has a tumor on one of her glands causing it to overproduce. Yeah, so I thought the tumor had been ruled out by our most recent ultrasound, but apparently not. We would have to do a CT of her abdomen to be sure.

So, we received this information on Tuesday, and brought it along with us to the geneticist. Let me first say that he was absolutely wonderful. He spent lots of time with us; explained everything thoroughly; talked so sweetly to Camille; and my personal favorite, he looked me in the eyes and said that Camille's condition was not my fault. I know that every other doctor we have seen has said the same thing, but the doubt really starts to creep in as we go longer and longer without a diagnosis. I just keep thinking that maybe if I had eaten more vegetables during my pregnancy, or other idiotic things like that. He once again assured us, though, that Camille absolutely has something genetic, it's just a matter of finding which genetic condition it is.

He explained that there are over 5000 genetic conditions out there, and that each of us are carriers for at least 6, but more than likely even more than that. Watson (of Watson and Crick who discovered the structure of DNA) mapped his own gene sequence and found that he was a carrier for over 30 genetic conditions. Anyway, probably more info than you wanted to know, but the thing is, Jason and I are carriers for at least one syndrome that is the same. The recessive genes have been in our families for generations; they just happened to come out now in sweet Camille.

So, in terms of finding out which syndrome this is, that's when it gets a little more difficult. This geneticist also said that he could not tell just by looking at Camille which syndrome she has. Darn, that would have made things so much easier! But, he did help us sort through a couple of things.

One, I had a list of syndromes that I was wondering about from my own research, and he tentatively ruled out most of those just by examining Camille's features. The catch was that in some of the syndromes, the child "grows into the look", and so we can't say for sure on a couple of them until she is older.

Two, he thinks that the hormone issues are THE KEY in finding Camille's diagnosis.

Three, he showed me how to access and use a database where you can put in different features and see which syndromes match which features. How awesome is that? Or dangerous, depending how you look at it. Jason was rolling his eyes as the geneticist explained all this and I grew more and more excited about my fun new toy. It's like a psycho-worrying, Internet-researching Mama's dream come true.

Four, he did tell us about one syndrome that might explain both the hormones and the other issues, but Camille did not have the hallmark feature of it (a missing or very short nail on the pinky finger). This syndrome is still a possibility, though, and so we'll just have to wait and see on it as Camille grows.

For now, we have to figure out the hormone issues and go from there. We should have additional test results back on those sometime late this week. I will update you after those come in.

That is, unless I am busy playing on my new fun database! Yep, definitely dangerous!