Friday, February 19, 2010

Time to see the Cardiologist

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.


Holly's Mom said...

I am new to your blog, why do you have to see the Cardiologist, do the boys have the heart issue that is a symptom of FSX? Does this Doctor offer anyone free testing, or just people in your family? My biological father's died and his mother refuses to get tested, as does her daughter. I know it is from him because my mother got tested and is not a carrier, but that side ofthe family refuses to acknowleadge it is even real.. Anyway, it is nice to meet you. Stop by any time.

Bonnie@TheFragileXFiles said...

Hi Holly! I love your blog. They don't have the heart issue as far as we know, we just see this pediatric cardiologist (I think she's a geneticist too, I don't remember all her credentials. I'll get her card this time.) every few years to check up and make sure it hasn't developed as they grow. I remember her telling us we could all get tested there, I doubt it'll be free but I'm hopeful insurance will pay at least part of it.


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