Tuesday, December 6, 2011

Testing

I received a call from our doctor yesterday evening about the results from the prenatal blood work that was done last week when we went in for our first appointment. According to the doctor's message, everything came back fine -- except for one "abnormality". Apparently, I am a carrier of the cystic fibrosis gene.

Of course, at first my heart sank at the news. Thank God for smart phones, because I was able to quickly Google what this meant. The "good" news is that being a carrier means you only have one copy of the gene, and it requires two copies for cystic fibrosis to manifest. We will need to have daddy tested as well, to find out if he's a carrier too. But, somewhat reassuringly, even if he is a carrier there appears to be only a 25% chance that you would have two copies of the gene (and thus have cystic fibrosis). If daddy isn't a carrier, we're "safe", except that there's still a 50% chance that you will be a carrier of the gene too (if daddy does have the gene there's also a 50% chance of you being a carrier and a 25% chance of you not having the gene at all).

I have no knowledge of anyone in my family having cystic fibrosis, so this came as a bit of a shock to me. However, apparently it's not uncommon for a single "carrier" gene to get passed down throughout the generations without a matching gene entering the picture to "activate" it. I really wish I could call my mom and discuss it with her, and see what (if anything) she knows, but it will have to wait until we announce the pregnancy.

It has highlighted for me how little I know about a whole half of my background. My biological father is not in my life, and hasn't been since I was an infant. I don't know that side of the family at all, and have very little information about them, genetic or otherwise. Perhaps those are other questions I'll need to broach with my mom once we've announced the pregnancy. I don't know how much she will know, but it would be good to fill in whatever gaps I can. Particularly if there are diseases in the family that I should be aware of, both for you and for myself.

No comments:

Post a Comment