If life were a game of dodgeball, then today would have been an all-star moment for our family. We dodged a genetic disease that we didn't even know we were capable of passing on to our kids. Amelia tested positive for Cystic Fibrosis during her newborn screen last month and that led us to further testing at Children's Hospital today. They did the sweat chloride test on her and not only are we pleased to report that she handled the test with ease, but - most importantly - it came back negative. This means that she does not have CF. She is a CF carrier though, and that doesn't change.
But CF carriers obviously live long, healthy and oblivious lives since either Dan or I are carriers ourselves.* We had no idea. They didn't do all of these fancy newborn tests back in the 70s. They didn't even do all of these fancy newborn tests back when Jackson was born - they started these screens officially in the state of Minnesota two months after his birth. (We do not need to worry about him because of his sister's result today though - believe me, we asked a lot of questions about both kids. If you want the whole genetics lesson about RR, Rr, Rr, and rr, ask Dan. He got really nerdy at the genetics counseling appointment.)
We were nervous for two weeks while we waited for this appointment, and now it's come and gone...with the result we were hoping for. Our little girl is perfectly normal. As the genetics counselor said "We're all carriers for something, we just don't always know what."
I can't help but wonder what family planning will be like in 25 years when our kids are entering that phase of their lives. "Ooh, he looks good. Did you see his gene card?" "I was falling in love with her, but then I saw her bad genes." Yes, we'll be watching the movie Gattaca again this weekend to further the interesting discussions we've had about genetics lately...
...but for now, it's time to rest. With one less worry on our minds.
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*We were given the option to have more testing done on us to determine who is the carrier, Dan or me, but we declined. There is nothing to be gained from the information and we already know all that we need to know. And Dan hates needles...
9 comments:
So glad it turned out well for you. Life can be quite scary when it throws you a curveball like that.
Oh, I am happy to hear that things are ok! Gattaca is such a powerful movie, isn't it? Because really, that's a possible future that we should think about before it gets here.
glad all is well! I find that stuff so interesting once you know everyone is A-OK! I still have to find a time to come over and visit!
Gosh...I am sure glad it all turned out well! I bet you are so relieved. I feel awfully lucky to have never dealt with anything like that..but like you said...they didn't always do the fancy tests...so no telling WHAT we are carrying.
I LOVE that picture of Jackson over on the right..and EVERY picture of Amelia is adorable so far. Have a great week!
Thank heavens that Amelia and Jackson both dodged that bullet. I have a friend (Karen O on my sidebar) who has three children. Two of whom have CF and her middle child is a carrier. It's a tough disease, but at least now there are enzymes and other treatments available. According to what I've heard, both you and Dan must be carriers as it's a recessive gene with a one in 23 chance of being present in the general populace... although that may have been updated or changed in recent years as more research has become available. Anyway, I'm glad you're all healthy.
Wow, so glad you got good news!!!!
So sorry to hear you were faced with this, but so glad for all of you about this outcome. How scary...
I am happy to hear that everything turned out okay. :-)
Good news! I'm a genetics geek, (was going to be a genetics counselor until my last year of undergrad) and GATTACA is a great movie! I wish I could show it to all of my students!
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