Genetics

I have been going back and forth for a while now on whether or not to have Tim get tested to see if he's a carrier of CF. I didn't want to because, honestly, I was afraid of a positive result. I didn't know if I could handle being a CF parent to a CF child, even though I knew Tim was on board with anything and everything (what an awesome husband I have!).

After many discussions on our own, we decided to go see a Genetic counselor to help us (me) make a decision. We had a wonderful, long discussion where he informed us that if we tried to get pregnant without getting Tim tested, based on Tim's family history/ethnicity, we would have a 1/50 (2%) chance of having a child with CF. I thought I was comfortable with that....then he told us that if we decided to get Tim tested and he was positive (a CF carrier), then we would have a 1/2 (50%) chance of having a child with CF...that sounded a little too risky for me. If we decided to get Tim tested and he was not a CF carrier, then we would have a 1/602 (<1%) chance of having a child with CF, but they would 100% be a carrier of CF.

1/602 sounded a LOT better to me than 1/50, or 1/2, but I knew that 1/2 was a possibility if we decided to get Tim tested. I still couldn't make up my mind, mostly out of fear for that positive result, so we left the genetics office without getting Tim tested. A few weeks and discussions later, Tim and I decided it was the right thing for us to do to get him tested. We went in about a week later and did two cheek swabs at the genetics office and mailed them out to the lab. We were told it would take about a week or so to get the results back. Two weeks after not hearing anything (and the geneticist was amazing, so I knew he wouldn't just forget), I contacted the geneticist to see what was going on. He contacted the lab the same day (told ya he was awesome) and they told him there was an unusually low amount of DNA from the cheek swabs, but they'd still be able to get a result. Well, a week later, they decided that there wasn't enough DNA to get a result, so the test failed.

The geneticist kept us up to speed with everything that was going on, and told us that we can either do another cheek swab test, or Tim could have his blood drawn which would definitely lead to a result. We decided to have Tim get his blood drawn this time to ensure a result. So last Tuesday night, we went back to the genetics office, filled out the paperwork (again) and Tim got his blood drawn. It felt kind of funny being in the waiting room, but not going back to get my blood drawn - usually that's always me - it was weird being on the other side of that for once! :) Again, we were told the results would take about a week.

One week later, today, we got the results back. Tim is not a CF carrier!!!

What does that mean exactly?

*It does not mean that our children will not have CF; there is a tiny chance that they still could get CF if for some reason Tim has some rare mutation that they could not detect from the screening, but there's less than a 1% chance of that happening.

*It also means that our children will be CF carriers. Since I have two mutated genes, and Tim has none, our children will get one mutated copy from me and one non-mutated copy from Tim which will make them carriers.