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June 30, 2023: Genetic Test Results Day

On Friday, June 30, 2023 (12 hours after telling the girls they were going to have a sibling) – I woke up and started packing my car for golf. Dave had gone to work, and our babysitter was just arriving. I checked my email quickly at 8:27a and saw a MyChart message from 8:04a saying I had new test results. I knew to be expecting the genetic test results any day and was looking forward to learning the gender of the baby sooner than we did the prior two. I took a screen shot of my email and sent to Dave saying “results are in! We find out gender when you get home! I won’t open til then!” – I grabbed my purse and water bottle and started getting in the car when my phone rang. I saw it was my doctor, so I answered. He said, “Liza, did you see your genetic test results are in your MyChart?” I quickly said “yes, but Dave’s at work and we don’t want to know the gender til we’re together, so I haven’t opened it.” He replied, “I’m not calling about the gender. I wanted to let you know that the NIPT results are showing that you are at a higher risk for what is called Trisomy 21, or what you may know of as Down Syndrome.”

I felt a lump in the back of my throat, but with composure replied, “oh, okay.” He proceeded to tell me that the NIPT test we’d taken was not a diagnostic test (because it is a test of my blood with a small percentage of baby’s) meaning it was only showing probability, not a diagnosis; he was not calling to tell me the baby had Down Syndrome he said, just that there was a higher chance. Again, I replied, “okay.” He said, “would you like to call Dave and talk with him and call me back so we can discuss options for how to continue with this news?” and I said “sure, I’ll call you back.” He said “please do, Liza, call straight to my line.” It was all very calm and matter of fact, so as to not alarm me I guess?

I called Dave at work (which is rare) to tell him. “The doctor called; the test is showing the baby may have Down Syndrome.” I said with tears streaming down my face, while standing in my garage to not freak out the girls. Dave responded with, “oh…no… okay, its okay. I’m coming home, it is all okay.”

I had twenty minutes between him saying he was coming home to when he was actually going to be home, so I went inside, asked our babysitter to come up, told her I got some hard news from the doctor and that I needed her to take the girls to swim practice and carry on as normal. Then I went and sat back in my car and called my mom, who was halfway across the world on a European cruise with my Dad. Thankfully she picked up, listened to the news through my exasperated breaths and cries, and told me everything was going to be just fine. I knew she was right, but every emotion was bubbling up all at the same time. After hanging up with her, I made a few other phone calls. You see, God’s placed the perfect people in my life to know exactly what to say (or not to say) and when. The people on the other end of that line remember this day just like I do. It truly is a miracle that this baby is being supported by so many amazing humans. I could cry just thinking about them.

I went upstairs, sat on the bed and waited for Dave. As soon as he got home, we opened up my test results. We scrolled to see the high risk status (95% chance) next to Trisomy21, while the rest of the disorders tested were low risk. We clicked on the AI generated information about the test and the results. 95% chance meant that 19 out of 20 women with the same test results ended up with a baby with Down Syndrome. My optimistic husband was quick to point out that meant there was a 5% chance the baby didn’t have it. (And thus started my search for anyone who had the same test results and a baby born without T21…but that’s a post for another day.) We also scrolled to see that this was our first baby boy.

We cried and then called the doctor back. This part of the conversation is a blur to me… and I can’t even really recall too much of it. The gist is this: Dave and Liza, this test is not diagnostic, it is simply stating that there is a high risk of the baby having Trisomy21. If you would like a diagnostic test, there are two available to you which are a bit more invasive: amniocentesis and CVS. Both of these tests require inserting a needle into the placenta, which comes with a very small risk of miscarriage. If you decide to go this route, we can schedule that for you and discuss future plans for your pregnancy. My OBGYN never asked outright this day if I planned to consider terminating the pregnancy, but the language they use in discussing “next available options” to you lends itself to that conversation. I quickly said, “termination is off the table here, so please do not mention it.”

We scheduled the “verification appointment” with Maternal Fetal Medicine that morning. At this point (not even 2 hours into opening those results) we felt we had to know. We didn’t want to spend the rest of the pregnancy in limbo land.

I wiped my tears, changed out of my golf clothes, and told Dave we would go on with the day. We decided together that it was definitely not worth talking to the girls about (if you remember reading about the night before, one child was definitely not ready for this news.) We both went to swim practice, where several of my friends whom I’d called were waiting to hug me (allowing me to keep my sunglasses on and helping me ‘keep my cool’ in public, while I was silently falling apart.)

Dave brought the girls home after practice because I had a previously scheduled massage with my friend/doula/massage therapist and Dave told me I should still go. So I went, and when she asked me what we were ‘workin on today,’ I started crying and said “for starters, my heart…” You see, she’d been on an intense search for a diagnosis for her little guy last year (which they got several months after our news) so when I told her what I’d just learned a few hours prior, she gave me the same perfect response as the others: this baby is so lucky to have you.

After my massage, I stopped at the baby boutique below her studio, grabbed a baby boy outfit to bring to the girls to tell them it was a brother, and went home to get ready for dinner—a couple days earlier we had invited my childhood best friend and her family over for dinner to surprise them with our baby number 3 news (they were expecting their third in just a week’s time.) When I gave them two baby onesies in two different sizes saying “best” and “friends” they were shocked and very excited! And yet there I stood, lacking excitement and full of fear and anxiety, with all the kids around, trying not to blink knowing the tears wouldn’t stop if they started. We moms left the room so I could tell her what we’d learned that morning. And once again, a hug and a “this is the luckiest baby. You will be perfect and so will he.”

When they went home and we got our girls to bed, we went to bed. I cried again. And I cried pretty much for the next 5 months.

And that’s that. June 30, 2023. The facts as best as I can recall them. The emotions and my opinions will come in another blog post as the next couple of months dredge up new and old feelings. Not everyone handles news the same. Some people keep it in, process it quietly and internally and release it slowly when they're ready. But as my friends and family know, I am an open book. I didn't know what I was going to hear that day, but nothing after that phone call from our doctor surprised me.

So I will leave you with this: if someone you know and love ever calls to tell you their baby may (or does) have Down Syndrome (or any genetic disorder) – make sure your first response sounds something like “what a lucky baby to have you.”   Our families and our friends have stood by us from the beginning; and they're not wrong-- Micah is a blessed little boy, and we can already tell that he, like his sisters, will bring us endless joy (along with all the rest.)


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