The Call

Today started out like any normal Wednesday. 

On Wednesdays Isla goes to school and I go to work at Gymboree Play & Music. Nothing about this day was different, other than my lazy butt not getting up early like I’m supposed to and running for about 35-40 minutes on my treadmill. Low impact, of course. But, since I snoozed (whoops), by the time I got up, I needed to shower, get myself ready, and then get Isla ready. By 7:55am I had Isla and I in the car and we were headed to drop her off at school. Once I dropped her off (after a sweet goodbye hug and kiss, of course), I headed in to work. Wednesdays are my short day…I work from 8:30-12pm. I LOVE Wednesdays because I have a few hours to do things between getting off of work and picking up Isla from school (run errands, study, do homework, etc). I don’t remember what I did when I got home on this Wednesday…I probably ate some lunch and took a nap. I know this, because, I still hadn’t worked out for the day when it was 3:10 and time to hop in the car to pick up Isla.

Once we got home, I decided I was going to work run on my treadmill…something I’ve never done while Isla is awake. So, I had to come up with a plan to distract her. My idea? A pack-n-play, a drink, a snack, and the ipad. I’d downloaded her a Disney Junior Appisode of Jake and the Neverland Pirates (her new fave) and with that, I was ready to get my sweat on. Surprisingly, it went well! She was happy in her pack-n-play with her drink, snacks and Jake, and I got through my whole run. After I stepped off the treadmill, I grabbed a couple weights (10 and 15lbs…light for what I usually do) and started to do some curls and French presses. Then, my phone rang…and my life changed forever.

I missed the call, so, I listened to the voicemail and it was someone named Pat calling from Kaiser. She said she was a genetic counselor and asked me to give her a call back to discuss some things. I thought to myself “genetic counselor…wtf?” So, while Isla was still occupied, I called Pat back. Her voice was very cumbersome…muted, and slow. From the tone in her voice, I knew something wasn’t good. Whatever this lady was going to tell me was something that wasn’t good. 

So she began by explaining to me why she was calling, something about the first trimester blood screening and some results from that screening that were alarming to them. “Alarming”? Well, sh*t…that doesn’t sound good (this is what I am thinking in my head...). First she mentioned the results of the Down syndrome portion of the screening. Apparently, the odds of our baby having Down’s went down from about 1 in 1,053 to about 1 in 1,366. So, that was good. “Yes…some good news”, I thought. Then, she went on to talk about some of the other things the screening screens for: trisomy 13 and 18. The numbers vary in different places. For example, the odds of a baby having trisomy 18 is 1 in 2,500 in one place and 1 in 7,000 in another. The same for trisomy 13…I saw 1 in 5,000 in one place and 1 in 10,000 in another. I don’t know which of the numbers for these trisomy conditions is accurate. But, I do know that Pat told me that our baby’s odds of having either trisomy 13 or 18 went all the way up to a 1 in 1,025 chance. In more simple terms, that means our baby’s chances of having trisomy 13 or 18 are a greater than a 1 in 5 chance, or, a greater than a 20% chance. Whoa. Whoa, whoa, whoa, whoa…A ONE IN FIVE CHANCE!?! IS THIS REAL!?! I remember listening to the words coming from inside the phone and thinking to myself “oh my gawd, I know exactly what these conditions are and I know exactly how lethal and incompatible with life they are. I just learned this in biology 233. This CANNOT be happening to me right now. This lady cannot be telling me this right now”. But, she was saying this and it was happening…to me. I tried very hard to hold it together because Isla was in the room with me. It’s amazing how that motherly instinct kicks in and I immediately tried to shield my child from seeing her mother hurt or crying. Unfortunately, even with that instinct kicking in, and me being well aware of her presence, I was not able completely shield Isla from my emotions. After all, I felt like I had just been made aware of a death sentence for the child growing inside of me. What’s more…apparently there are some proteins that should be found in maternal blood when a women is pregnant. I don’t know what they are specifically, but, Pat did tell me that those levels in my blood were low for the gestation of our baby. She said that this could be due to the presence of one of the above mentioned conditions, or, due to the baby’s gestation not be calculated properly. Pat also said that she thought the levels of protein in my blood likely meant that I was going to have a miscarriage at some point.

So, after ALL THAT and taking in ALL that information, Pat presented me with some options on how to proceed. The first options was a non-invasive prenatal test (NIPT). This test is a blood test that looks at ratios of different chromosomes in maternal blood. It doesn’t give definitive answers about the presence of trisomy 13, 8, Down’s syndrome, or any other condition. It gives probabilities, and, is therefore considered a screening. She also explained two other options, both of which I was familiar with: a chorionic villus sampling (CVS) or an amniocentesis (amnio)...two diagnostic options (diagnostic because they give a definitive yes or no). A CVS is a procedure that is similar to a pap smear in terms of the entry, but, more specifically, it takes tissue from the placenta (they push a catheter with a gentle suction apparatus through your vaginal canal, up through your cervix) that they put in a dish and grow into a large colony of cells (from that tissue sample). They then analyze those cells for chromosomal abnormalities. This test can be done anywhere from 8-13 weeks. An amniocentesis is different from a CVS in that it involves using a large needle to puncture the abdomen and amniotic sac to get a sample of amniotic fluid to analyze for the same chromosomal abnormalities. This test is done a little further in gestation, between 16-22 weeks. At this point, I had had enough information and really just needed to talk to Alberto about it. So, I thanked Pat for the call and for giving me all the information she did, and said that I would call back tomorrow with a decision on how we wanted to proceed. She told me to take our time in talking and coming to a decision and that when we did decide, she’d be there to help us in any way.

When I got off the phone with Pat, I immediately called Alberto…bawling. I could hear the panic in his voice when he asked me what was wrong, and, I unloaded on him. I told him everything Pat told me. He was en-route to school from work (he goes to school Monday, Wednesday, and Thursday) during the call, so, once he got to school he explained that there was a family emergency to his classmate, asked him to tell the teacher, and then he headed home.

I somehow got Isla dinner that night, we bathed her, and got her down to bed before we really discussed anything. I vaguely remember crying while Isla was awake and Alberto comforting me, but, otherwise, that period of time is a blur. I do know that I’d sent a text to a friend who I knew had had some genetic testing with her second child. I had asked if she could call me a little later to talk (since she wasn’t home) and I told her I’d call once we got Isla down. Once Isla was down, I called my friend and we talked. She’d gotten testing because she is a little older than I am and it was sort of an age precaution (ridiculous, if you ask me…the “advanced maternal age” thing. She’s like 36!). Long story short, there wasn’t anything about her blood work or anything they saw on the ultrasound that was cause for concern. She was very sweet to me and tried to assure me that things were probably fine and that we should try the NIPT that she did. I appreciated her kind words and thoughts, because, I was freaking out inside.

Alberto and I were on the same page about how we thought we should proceed with this process. Since at this point, I am only 10 weeks pregnant, we think the best course of action is to start with the NIPT. It is the least invasive of the options and there really is no cause to be concerned with miscarriage as a result of this blood test. The CVS has around a 1 in 200 chance of miscarriage and the Amnio is somewhere around 1 and 500 chance of miscarriage. We think this is a good place to start because should the blood test come back inconclusive, we can move on to the next step, which would be to have the CVS done. Although it has a higher instance of miscarriage, we feel like we cannot wait another 3 weeks to have the Amnio done (16 weeks gestation at a minimum) and another 7-14 days from that point for results. We already have to wait a week to have the NIPT test done and another 7-14 days for the results of that test. 

Is it me, or, is pregnancy and all the things that come with it a cruel and VERY LONG waiting game?