So, it turns out we are due to see the cardiologist again -- actually we were due in January of 2009. Oops. I called to make an appointment today, but doctors' hours appear to rival bankers' for their brevity. It was 11:30 AM, and apparently they close up shop for the day at 11 on Fridays. Good deal, I'll try again on Monday morning!
I remember this doctor. She offered Fragile X testing to any family members who wanted it. At the time we weren't able to think that way. Since then though, both my parents have been tested as well as a few other relatives. Specifically I remember her offering that, though, because I think I'd like to have Aliza and me tested. Obviously I'm a carrier, but it would be interesting to know my actual repeat number (click here to see what I mean by "repeats"). Carriers of the Fragile X gene can have a variety of health issues of their own, I'm gradually becoming aware of those.
I'd like to have Aliza tested because obviously we need to know if she's carrier both so she can make informed decisions when the time comes for her to plan her own family, and so we can watch for issues carriers have, if she is one. I'm feeling pretty confident she isn't a full mutation (click here and scroll down about 2/3 of the page to read what I mean by "full mutation". You didn't know this was going to be such a biology lesson, did you? Sorry, all done now.) but I need to know if she's a carrier before she gets old enough that I have to talk to her about it.
A Fragile X Christmas 2017
5 days ago