We are at 14 weeks and 4 days - amen!
We had a bit of a rollercoaster week, though, and when I say that I'm not exaggerating it ONE BIT.
I wrote last time (at 13 weeks) about how we were anxiously anticipating our nuchal translucency screening ultrasound and blood test on Friday 11/12, which are used to check for obvious genetic/chromosomal problems and identify potential risks for those problems. As I mentioned in my last post, I had never had this particular combined test when I was pregnant with Super Boy. It was available then, but it was never offered to me, probably in part because I was only 28 at the time and my levels of risk were relatively low.
Now, back when I was expecting Super Boy, the only similar screening tests I had were the triple screen (now called the quad screen, as another protein was added for screening) and the alpha feto-protein (AFP) test, which are both used to screen for possible neural tube defects, Down syndrome and Trisomy 13 and 18. I remember my doctor warning me that the triple screen had a high false-positive rate, and to take whatever results came back with a grain of salt as a result. She assured me that IF there were any indication of a problem on that test result, she would do further testing (likely amniocentesis) to drill down to more solid evidence one way or the other. Fortunately, in that pregnancy, it was never an issue and my results were fine and I ended up giving birth to a healthy baby boy.
Apparently, however, the nuchal translucency ultrasound combined with the special blood test has only a 5% false positive rate, so any red flags raised by those tests are taken a bit more seriously by doctors, as I was soon to find out.
The day of the ultrasound, on 11/12, we were nervous but also excited to get another look at our baby. The ultrasound tech warned us in advance that a nuchal ultrasound tends to take longer because they have to get a really optimal view of the neck folds on the baby, which can take awhile because babies move so much at that point. She was right in our case! Our baby was all over the place, waving its arms & legs, rolling over and turning around. It was WONDERFUL to see, and was awesome for us to get so much time to watch him or her, but frustrating for the tech to say the least! Ultimately, she was able to see everything she needed to see, and according to her, all the measurements of the baby were right on for the gestational age, and she saw nothing of concern. We met with my doctor right afterward and she, too, said things looked great. We made the mistake of prematurely breathing a sigh of relief and assuming all was well, despite the fact that our blood test would not be back for a week.
Big mistake.
We were going about our lives, not thinking too much about the blood test results, thinking in our minds that our baby was just fine, that everything was going beautifully. On Wednesday 11/17, around lunchtime, I was in the midst of talking to my mom on the phone about how we'd had to have an electrician out that morning and were looking at having to do some MAJOR electrical work on our house when, out of the blue, my cell phone started ringing. I told my mom to hold on a second while I checked to see who it was. It was my doctor's office. Only it wasn't just the doctor's office calling -- it was the doctor herself.
As soon as I heard my doctor's voice, my intestines clenched and my heart stopped. I knew it couldn't be a good sign that she herself was calling me to discuss my results. I could hardly breathe as she said that my test results had come back. My risk for Trisomy 13 and 18 were normal, 1 in around 7,000, so that was good. But the test showed an elevated risk of Down syndrome. Normal for my age (36) is around 1 in 375; my results came back putting the risk at 1 in 49, which is only "normal" for a woman of 43-years-old.
I felt like I'd been punched in the stomach. I didn't even know what to say. My doctor said it was "probably nothing to be concerned about, but" she wanted me to see a genetic specialist as soon as possible for a genetic ultrasound and possibly amnio or CVS (chorionic villus sampling). I was numb as she gave me the names and phone numbers of the specialists she recommended contacting. I thanked her for calling, somehow still managing to hold my shit together, and then she said, "Super Woman, like I said, it's PROBABLY nothing to worry about, so try to stay calm and relax, and let's just see what the genetic specialist finds. One in 49 means that 48 babies will be just fine - the odds are in your favor."
And, just like that, I started bawling.
My doctor kept talking to me while I calmed down, and then when I had a grip on myself again, she told me to call her back if I had any questions and to let her know who I was going to see for the ultrasound.
Long story short, we thankfully ended up getting in with one of her recommended specialists the very next day. I was beyond relieved -- the thought of facing several days or even a week of waiting for answers was simply intolerable. Still, not knowing what lay ahead of us the following day meant very little sleep that night, for me or Super Man. Thankfully, my mom came to be with us, knowing it would help calm me down and keep me from obsessing over the worst case scenario. And while I can't say it totally worked, I will admit that it helped.
Our appointment was on Thursday 11/18 at 12:30pm. We had been told it would be at least a 1.5 hour appointment, possibly longer, depending on whether we needed to have amnio or CVS. When the time came to drive to the specialist's office, we resolved to just get through it and hope for the best. Still, I was shaking like a leaf. Thankfully the doctor's office was just down the road from our house, 5 minutes away, so I wasn't a danger to myself or others driving over there.
The doctor, an older German man, was phenomenal. Excellent personality for working with someone like me (meaning someone who is a grade-A first-class chronic worrier). He took a thorough history of our family backgrounds, our health, my prior pregnancies and this pregnancy, and then talked to us about what was going to happen that day. He said that he focuses on four things in conducting genetic ultrasounds:
1.) the health of the pregnancy, meaning my uterus; the placenta; the amniotic fluid; my blood flow to the baby and placenta; and so forth;
2.) the health of the baby, meaning the actual baby itself and all of its measurements; the blood flow within the umbilical cord and the baby's body; the health, development and function of the baby's organs; the heart rate of the baby; and so forth;
3.) looking for indicators of birth defects, such as missing or extra digits on hands/feet, malformed body parts, etc.; and
4.) looking for signs of chromosomal disorders, like Down's, by checking the development and function of the heart and other organs, and checking the measurements of the baby for its gestational age.
He said that amnio or CVS may not be necessary if he could reasonably rule out the risk based on the ultrasound alone, but if it looked like one of those additional tests would be warranted, he would only do it if everything with the baby was ideal on ultrasound, because there is a slight risk of miscarriage with either of those more invasive tests. We could refuse them, but if solid answers were what we wanted, we had to be willing to accept the slight risk of miscarriage. We knew we were ready to accept that risk if necessary, because the alternative -- waiting in the dark for 6 months to find out after the baby was born -- was not something we felt we could endure.
The ultrasound took about an hour, but it was far more detailed than any ultrasound I've ever had before. Once again, our baby was moving around like crazy, very active, sucking its thumb and waving its hands and feet at us. Seeing that totally warmed our hearts, and my mom was amazed by how much could be seen given that I was just over 14 weeks pregnant and she'd never had even one ultrasound with me, my brother or my sister!
The doctor checked E-V-E-R-Y-T-H-I-N-G, from my reproductive organs to the top of the baby's head to the tips of its toes. He showed us where the baby's teensy-tiny kidneys and liver were, and looked closely at the chambers of the heart, the movement of blood in the baby's body, and even pointed out the tiny pearls of the baby's fingers, toes and joints. It was truly amazing.
The icing on the cake of the ultrasound was that the specialist was able to tell the baby's gender, which was something we had planned on having to wait to find out at my 18-week general anatomic ultrasound, which was scheduled for 12/15. I knew the baby's gender in my heart from the very beginning, but Super Man, Super Girl and Super Boy all thought it was the opposite, so I was really happy to hear that my gut instinct was right: this baby is a GIRL!! My mom and I both started crying at the happy news; Super Man's response? "Are you sure? Can you check that again?" :) In case you're wondering, he was sort of hoping for another boy! But he is of course thrilled to have another daughter.
Thankfully, the entire time the doctor was doing the ultrasound, he talked about what he was looking at, and all his comments were good -- everything was where it was supposed to be, doing what it was supposed to be doing, and as developed and appropriately sized as it was supposed to be at that point. Still, somehow, at the end of the ultrasound he told me that he could NOT say for sure that the baby did NOT have Down's. The ultrasound did not reveal any specific markers, but he couldn't confidently say for sure based solely on the ultrasound, so he recommended doing CVS. We asked why he wanted to do that versus amnio, and he said that the accuracy was virtually the same and we'd have the results the very next day, versus a week to wait for amnio results. We consented, and they prepped me and did the test right away.
I, of course, had no idea what to expect, having never been through a CVS before. I understood there would be a big, thin needle involved, the placement of which would be determined and guided by ultrasound, that they would be inserting that needle into the placenta through my abdomen, and that the purpose of the CVS was to take a tissue sample from the placenta, which shares the same genetic material as the baby itself. The doctor felt confident based on the placement of the baby and the placenta that he could do the test very safely without any impact on the baby, which put my mind at ease. He said it would pinch a little during the test, but it was a quick test and I would feel pretty much fine afterward.
He was right. It was a little uncomfortable when the sample was being extricated, but it was over within a few minutes. I had a little tenderness around the point of insertion, and have felt an occasional twinge here and there in the days since, but I have had no bleeding or spotting or fever or anything else (thank God). When we left, 2 hours after we arrived, we were told that we could call in at 4pm the following day, Friday 11/19, to get our results. This doctor handles it that way so that the patients are prepared and he's not calling anyone at a bad time to share potentially bad news. I was glad for that, but wished he'd said we'd have results by 10am instead of 4pm!
Needless to say, Thursday was another near sleepless night. I tried so hard to just focus on the wonderful ultrasound and the news that our baby girl appeared to be healthy and was measuring normal and all indicators were generally good, and focus less on the possibility that our baby might have Down's, but it was hard not to worry. Fortunately, we had Super Boy's parent-teacher conference at school Friday morning, and had a handful of errands to run that morning as well, so it helped to distract me, but the afternoon passed agonizingly slow.
Super Man had to go in to work that day, but planned to get home before 4pm. My mom had stayed with us, and my awesome Super Friend also offered to come and be with us for the call, so I had plenty of love and support around me, just in case. Unfortunately, Super Man ended up getting home a little late, but we were able to make the call by 4:15pm.
I could barely breathe waiting for them to answer. Once they did, they didn't keep us waiting. We were told immediately that the test results came back completely normal, that our baby was just fine, healthy and normal. I started crying with relief, and then the nurse asked if we wanted to know the sex of the baby. Super Man told her that the doctor had told us during the ultrasound that it was a girl, and she confirmed that the CVS showed that as well, so it was all good news on all fronts.
We were so relieved... honestly, I can't find the words to express the sheer measure of our relief. We had discussed the "what if," obviously, and we were both in agreement about our general feelings should that come to pass, but we just prayed that we wouldn't have anything to worry about when all was said and done. Because this is it -- there will be no more pregnancies for us, regardless of the outcome of this one. After going through my miscarriage in the spring, I knew that if we lost another one, I could not personally go through it all again, given all we had to do just to GET pregnant. So, for sure, the relief we felt hearing that our baby is doing beautifully and is normal and healthy was beyond anything I could ever have imagined.
With all we've gone through, I know how lucky we are to be here, now, expecting this baby. I pray every single day for those couples who have struggled to get pregnant, for those who have suffered losses, for those who have reached the end of the road in their efforts to have a baby. It's not easy, any of it. There are no magic words to heal the hurt. I pray for peace for all.
With a grateful heart,
SW
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