These past weeks were tough. Like, the toughest waiting I’ve done thus far. The unknown is so scary, especially for someone who is a planner, a problem-solver, and a researcher like myself. I just wanted, or more like needed, to know what was going on with my baby girl.
If you’ve been following my blog long enough, you know that I post everything from my own perspective based on my interpretation. What I mean by this is when I receive medical information, I take it, reflect, and analyze in it my own mind. I am a Reading Specialist, not a doctor or anyone with medical experience. I usually will not have any questions for the doctors right then and there because I am a very reflective person and try to interpret the information for what it truly is. With that being said, just keep in mind as I spew back results and medical information; it is solely from my perspective and interpretation.
I got the phone call from the genetic counselor during my lunch break at work. I remember feeling so anxious and literally sitting at the edge of my seat and reminding myself to breathe. The genetic counselor began explaining how they finished the first test (lining up all 23 chromosomes and looking at the genes that makeup each chromosome). She said there were no extra or missing chromosomes in Baby K’s makeup and that overall, everything looked NORMAL!
What a freaking relief!
She continued to explain one finding that was unusual. Baby K has a duplicate gene on chromosome #8. At this point, there is not enough (or any) research in science linking that duplicate gene to anything and typically if they find something similar to that, they don’t even report it because it is not linked to anything known and could simply be a physical feature. This is when
the genetic counselor advised us to think about opting in for the complementary genetic testing for both Kyle and I to see if one of us has that duplicate gene as well. If one of us has it, then there’s nothing to be concerned about, but if we don’t, then we could maybe look deeper into it. From this point, we wait another 2 weeks for the continued testing (specifically looking at DNA for Noonan Syndrome and a couple other conditions and syndromes that are linked to DNA makeup).
In the meantime, we went in for our own genetic testing and it was finally Kyle’s turn to get behind the needle, haha!
Knowing these results lifted so much weight off our shoulders. Our biggest fear was a fatal diagnosis and these tests cleared that up. Now we had to anticipate the next step. After doing so much waiting, we had become serious pros, we knew this next waiting game would fly by.
A week later (much earlier than expected), our genetic counselor gave me a call with the rest of the results. Baby K tested negative for Noonan Syndrome and the other conditions/syndromes that were tested!
I was in my car (in the Chipotle parking lot to be exact), and I just remember starting to cry. I was so relieved, but confused at the same time. If it’s not all of these things that we thought it could be, what is causing her cystic hygroma? At times it almost became scarier because we were still at this “unknown” point. I just threw questions toward my genetic counselor based on my thought process in that moment. She reminded me of the potential connection to a congenital heart defect, which will be looked into more at my scheduled fetal echocardiogram in the next upcoming 2 weeks or so, or it really could be a lymphatic system development error, or even nothing. A lot of times, cystic hygroma will resolve itself by Week 20 gestation if it is the 3% chance of being nothing. We had a lot of looking ahead to do that we were very anxious for in hopes of getting more good news and answers.
Kyle and I were holding on to so much hope and sending so many prayers. This little girl has some pretty incredible guardian angels and I would talk to them daily and just ask them to keep her safe and healthy. That’s all we truly wanted. We talked so much about simply wanting Baby K to have a fair chance at a happy, healthy life and we would do anything in our power to give her that under whatever circumstances may come at us. We love this little girl so much already and there is truly nothing that love can’t conquer!