A Phone Call I Didn't Expect

This morning when I woke up (at 11:30 - gotta love Spring Break!) I realized I had left my phone in my car the night before. When I went outside to get it, I noticed there was a missed call and a voicemail from a random number I didn't recognize. At the back of my mind I knew that I should be getting a call any day from the Genetics Center where we had the screening done, and this could be that call. So I came inside and listened the message, where they asked me to call them back. I immediately was worried, since at the appointment the woman we met with said she would just leave the information in the voicemail, so I wouldn't have to call back. I texted Andrew to let him know, and then immediately called them back, my heart pounding the whole time.

The woman who had left the message answered the phone, and since she had only called less than an hour beforehand, she knew who I was when I called back. She first told me that my risk for Down's Syndrome and Trisomy 13 and 18 were all 1 in 5000, which is the best it can be! That was a huge relief! At this point, I'm wondering why she didn't bother to just leave the information in the voicemail.

However, she then goes on to tell me that my bloodwork for the Cystic Fibrosis mutation also came back, and I am indeed a carrier for CF, something that completely shocked me! No one in our family has any history of CF, so we knew nothing about this! My mutation is called Delta f508, which apparently is the most common type. For the rest of the day, I read as much as I could about CF, to find out what things looked like from here on out.

The next step is for Andrew to get tested for any CF mutations. If his tests come back clear, then everything should be fine. In order for a child to have CF, both parent have to pass on a gene with a mutation. Since I am a carrier (not actually affected by the disease), I have a good gene, and a bad gene. Therefore, I have a 50/50 chance of passing on my bad gene to the baby. If Andrew is clear, then he can only pass on good genes, meaning the baby could also be a CF carrier, but would not be affected by the disease. If Andrew's testing shows he is also a carrier, then, he would also have a 50/50 chance of passing on a bad gene to the baby. Then, there would be a 1:4 chance for the baby to have CF (if we both passed on bad genes), a 2:4 chance to be a carrier (if one of us passed on a bad gene and one passed on a good gene), and a 1:4 chance for the baby to be neither a carrier nor have the disease (if we both passed on good genes). So the odds are in our favor right now (probably he won't even be a carrier, and if he were, it's still a 3:4 chance that the baby would be affected!) but it's a scary place to be right now.

Andrew will hopefully get his bloodwork done next week (he has to go on a Monday or Wednesday, but they are not there this coming Monday due to the holiday) and then we'll have to wait a week or two to get the results back. In the meantime, I'm just reading as much as I can, so that I know as much as possible. This is something I absolutely never expected, and I'm so glad now that I agreed to have the testing done! I'll be doing a lot of praying over the next several weeks!!!!!