Last week, Joel and I made a pretty big announcement. Surprise! Baby G is on the way! I think it’s safe to say that we ALL had a VERY different idea of how 2020 would play out and this was no different.
We knew that after getting married we would eventually start trying for a baby, or as I’ve come to learn about the term for this, TTC (trying to conceive). In early March, I met with my amazing OBGYN, Dr. Roca. We went over our plans, that we’d ultimately like to start trying this year to grow our family and I asked if there was anything I could start doing, besides taking prenatal vitamins, to get ready. He suggested genetic testing. I could have waited to do this while pregnant, but why waste time.
The genetic test I had done was a comprehensive carrier screening that tested approximately 280 different genes. The results would show which, if any, I would be a carrier for. Turns out, I was a carrier for Glycine Encephalopathy. WTF is that? I had the same question. Long story short, nothing good and Google is your worst enemy in this type of situation. But our next step was getting Joel tested to make sure he wasn’t a carrier of the same gene. What would the chances of that be, right? Out of 280 genes, no way we would both test positive for the exact same, RIGHT?! Wrong. Turns out we are BOTH carriers for Glycine Encephalopathy.
A little bit on Glycine Encephalopathy. and I’m taking this straight from our test results report, “…a disorder in which individuals have difficulty breaking down the amino acid glycine, leading to glycine accumulation in tissues and organs—the brain, in particular…Individuals with the most common form, the “classical” type, typically develop symptoms shortly after birth that include feeding difficulties, lack of energy (lethargy), poor muscle tone (hypotonia), abnormal jerking movements, and life-threatening breathing problems. Most children who survive the early stages of the condition develop profound intellectual disability and seizures.”
Ultimately, this was not the quality of life that we would want for our baby, but there was a 1 in 4 chance that we could pass this on. The only way to know if we passed this on…get pregnant and have genetic testing done on the fetus at around 12 weeks and wait. Lots of waiting.
It was time to get busy, and quite frankly, much to my surprise, we didn’t have to get THAT busy 😉 We had already established with Dr. Roca that I would need to consult with Dr. De La Torre at Associates in Advanced Maternal Fetal Medicine and also proceed with the CVS test. At 12 weeks that’s exactly what we did. Lucky for me, I get to see her all throughout my pregnancy. The whole team at Associates in Advanced MFM made what could have been such a scary process, especially during the time of a pandemic, one that was comfortable, safe and reassuring. I’ve loved my experience with them! 2 days before I was 16 weeks, Dr. De La Torre scheduled a Telehealth virtual call with us to give us the good results! While Sprinkle is a carrier of the gene, just like Mama and Papa, it has not affected the baby!
Overall, my first trimester was pretty typical, LOTS of nausea and lots of exhaustion. I’m taking Doxylamine for the nausea which has helped, but not totally. The second trimester has been better. The waiting for our results was so hard, but I know how lucky we are to have gotten good results and that’s not always the case. These types of situations make you think of all the things that can actually go wrong. As cliche as it sounds, it really is a miracle when things go right! Covid has added a whole different layer of stress, in that I don’t get to share in my doctor visits with Joel and going through the CVS testing without him wasn’t easy, but I know we have so much to look forward to together! We are all SO excited for our little Sprinkle, set to arrive January 1, 2021. Trying my best to make sure Sprinkle stays put until 2021!