Yesterday we went to a genetic counselor, Dr. Peirpont, at Children's Hospital, whom we are scheduled to see every few years. We last saw her around 3 years ago. A lot has happened since then, so we had a lot to discuss. She examined the boys and was happy to see how healthy they are and how much progess they've been making in therapy. They tolerated her examining them really well. Maybe because we brought along the mini DVD player and our huge pack of Dora, Diego, Wiggles, and Wonder Pets DVDs. She would like to get echo-cardiograms (yes, I'm aware I probably spelled that wrong, but I just don't feel like looking up the correct terminology right now, so bear with me) but they would have to be sedated, so if there is ever a time when they are sedated for something else -- like maybe dental work -- they can get the echo at the same time, killing the proverbial two birds with one stone. Something for us to keep in mind, should the topic of sedation come up.
We talked a lot about my family, who has been tested and who has not, who is affected and who is not. We talked about testing Aliza for the Fragile X gene. We have never had her tested, and she has a 50/50 chance of being a carrier. It's something I haven't necessarily been putting off on purpose, it's just that it's an expensive test and I wasn't sure how to go about doing it so that our insurance would pay for it. Dr. Pierpont seems to think insurance should cover most of it. As we discussed our family and the number of people who have been tested positive as carriers, we decided, for various reasons, it might not be a bad idea to test me as well. By the way, if none of this makes sense to you and you want to learn more, check out http://www.nfxf.org/ to find out everything you ever wanted to know about Fragile X and how it is passed from parent to child.
So anyway, next Monday morning Aliza and I are going to go have some blood drawn to test our Fragile X repeat numbers. I haven't told her anything about it yet, I'm not sure how much I'm going to explain it to her. I obviously have to tell her something but I'm not sure she'll understand the difference between being a carrier and actually having the disorder, and I'm not sure I want her to understand it right now either.
When we are done giving blood, I think we'll go to the Science Museum, which will probably soften prick of the needle a little for her.....and we might get ice cream, which will make me feel all better.
Guardianship and Guilt
3 hours ago