Sunday, June 12, 2011

Can We Get Some Answers?

I want the answer to this question to be yes.  We have our next appointment at Hershey on Tuesday.  Judith will need a repeat sweat test (oh goody - I feel so bad that she has to go through this a 3rd time), and then another follow-up with her pulmonologist.  I'm hoping that they have the results of her genetic screening back, and we can find out what her exact CF mutation is.  We should also be able to get some clues as to what mutation I'm carrying.

We already know Judith carries DF508 (delta f 508), the most common CF mutation out there.  This is what the newborn screen detected, and I'm pretty sure this is the mutation John carries (well, we know I don't carry it, so it had to come from somewhere).  I don't think there's a way to predict how the disease will impact any one person, but we may be able to get an idea on how severe her case may be based off the mutation she least this is what I'm hoping for.

I'm getting better dealing with unknowns, and that's one advantage that came out of dealing with a preemie in the NICU for 9 weeks.  But the unknowns still drive me nuts.  I hate not knowing what's going on, and I get frustrated when I can't find answers to my questions through the things I research.  I'll be blunt and say that I avoid Dr. Google like the plague after learning my lesson when Judith had her NEC scare early on in her NICU stay, but I have this urge to read more about CF and it's hard to find reputable sites that aren't going to scare the living s*** out of me.  I guess it's time to start looking for more books to read, since I've pretty much exhausted the one we got from the CF clinic.

1 comment:

  1. I just came across your blog today and was reading through a bit. My daughter will be 2 in August and was diagnosed with CF with the newborn screen. She has 2 copies of DF508. A good website to go to (if you didn't already know about it) is Its basically a social networking site for the CF community. I don't post on there much, but I log on almost everyday. I personally think its great :)