The Verdict

I guess like that other post, I don't really know where to start.

I got a phone call yesterday from the genetic counselor confirming that Baby J really does have tuberous sclerosis. It was a very surreal phone call. I was at a Carter's outlet exchanging some clothes when my phone rang. I had just left a message for the other genetic counselor and that's who I thought it was when I answered. I didn't expect to actually be getting news right then and there. I just thought I was getting a returned phone call. So there I am wandering around Carter's, carrying Baby J in her car seat, which is not easy these days, trying to fight back tears and digest what is being said. You know, those medical type people say things in the vaguest ways sometimes. She said, "Her blood work came back positive for a variance." Does that mean she has a variance or that she could? Well, it means she does.

There are two known genes affected TSC1 and TSC2 (original, I know). Baby J has a mutation in TSC1 which is the gene affected less often. It also seems to have less severe implications. I didn't learn all of this in Carter's. I got off the phone, quickly made my exchange, and bolted to the car where I had a good cry and called Hubby. We talked for a few minutes and then I had a good cry the rest of the way home. I pulled myself together after getting Baby J down for a nap and called the genetic counselor back. I just needed more info.

I guess if there is a best case scenerio for someone with TS then Baby J has it. She has no tumors anywhere that we know of (just need to do a pediatric opthamologist visit) and seems as healthy as can be. We're fortunate to know about her diagnosis now so we can be proactive when things arise. Yeah, it's really easy to type all that now but I was a mess about it all (and am still a little). I think we all want our children to grow up with every opportunity and I'm just scared that this will somehow keep Baby J from having a normal childhood. It certainly hasn't so far, but I do not deal well with the unknown and I just want what's best for her. And I know it's so far in the future but I think about when it's time for her to have kids. And what if the chance of her passing this on keeps her from having kids when she really wants them? I know I'm jumping the gun but I can't stand the thought of it all.

Also, all of this really makes me think we won't have more kids. I just don't know if I can go through all of this with another baby. It's such an emotional roller coaster. Right now we don't think either Hubby or I have TS. Two thirds of cases are new mutations in the genes. But if we want we can get looked over with a wood's lamp (basically a black light) to see if we have any white spots. Nearly 100% of people with TS have the white spots. If we don't have spots then it's safe to assume we don't have TS. I always thought we'd have at least two kids so part of me has been in mourning a little over never being pregnant again or having a newborn or all of the wonderful parts about having a new little baby. Again, jumping the gun. We still can have kids if we want. Neither of us are ready to make that decision just yet.

And silly me, I really let myself believe that this whole diagnosis was a fluke after Baby J's MRI came back clear. To me that was proof that she was fine. And she is fine, don't get me wrong. But I think it all came as such a shock to me yesterday because I really thought the doctors were wrong. I wanted them to be wrong so bad. So now I have to deal with her diagnosis all over again to some extent. It's going to be a long road for me and for us, I think. But ultimately Baby J is the same baby she's always been. She's sweet and funny. She's a total ham and so smart. I love her more than I could've imagined.

To leave on a happy note, here's a couple pictures from yesterday when we were getting ready for a walk to the store...





And a couple more of her playing with her books...