Good Things To Come

-Cynthia Block

Before this week, Colt and I assumed our baby would be healthy, and this pregnancy would be average. We expected the normal ups and downs...perhaps some nausea, mood swings, cramps, trips to the bathroom every twenty minutes. Inconvenient stuff, perhaps, but typical.

We had no reason to think otherwise. We are both 26 years old, with no family history of any significant or recurrent genetic or developmental disorders. We don't drink, smoke, or use illegal substances of any kind. Both of our mother's had healthy pregnancies...all of our friends gave birth to healthy babies. So it would be with us.

We arrived at the doctor for our 7:30 a.m. appointment last Wednesday. Nobody was there. After waiting for a half hour for someone to open the clinic, they let us know that we had been scheduled for a day when the doctor was not in the office. I think the receptionist could tell how sad and frustrated I was, as this appointment was made a month in advance, and we had really been looking forward to at least hearing our baby's heartbeat and making sure everything was on the up and up. I mean, besides the positive pregnancy tests and food aversions, I really had no proof there was anyone in there!

To try and compensate for the mistake, the receptionist called the local hospital to see if they could get us in for a sequential screening. I'd never heard of this. Turns out, it's an ultrasound and blood sample screener that's routinely conducted between 10-13 weeks to assess a baby's risk of chromosomal abnormalities, such as Down's Syndrome, Trisomy 18, etc. The hospital said if we could get there in the next half hour, they would do the screener for us. Of course, we got in the car and headed to the hospital. We were so excited at the prospect of being able to see our baby for the first time.

We checked into the Neonatal Medicine unit and I had some blood drawn. After waiting for almost an hour and a half, it was finally our turn. Seeing our baby up there was really special, and I couldn't stop smiling. I'm pretty sure he is the sweetest baby ever seen via ultrasound. I love his little nose. We even caught him sucking his thumb; you can see it in the bottom picture. That's his hand in front of his face, and his thumb in his mouth.

I wasn't really thinking about the purpose of this screen. I was confident our baby was fine. After checking for the heartbeat, and making sure arms and legs were all accounted for, the ultrasound technician started to measure the "nuchal translucency." NT is a pocket of fluid in the back of a baby's neck, and typical thickness is below 3 mm.

The technician was having a hard time getting our baby in the best position because he was so wiggly, but eventually was able to get a few measurements. Our baby's NT measured at 3.4 mm, which the ultrasound lady told us is higher than what they like to see. Then she left to get the doctor.

At first, I wasn't that concerned, because it had been hard for her to get a good reading. But then the doctor came in to talk to us, and his words were not very comforting. He told us that baby's who have a high nuchal translucency are at an increased risk for chromosomal abnormalities and heart defects. Because our baby's NT screened high, the doctor said it really wasn't worth analyzing my blood samples and continuing with the screener, because the results would come back abnormal anyway due to the high NT results, no matter how good my bloodwork looked. Because I couldn't stop crying, he recommended that we either do a chorionic villi sample (CVS) ASAP or wait and do an amnio at 15-16 weeks to determine if something was really wrong. I was in tears and couldn't stop. I felt ridiculous crying about an "increased risk," and even asked the doctor if I was being silly, but he said I wasn't being silly in the least, which did NOT make me feel better. It made me feel like I really did have something to worry about. I kept fishing for reassurance, hoping that he would say our risk was small, or that it was unlikely something was wrong and this was just standard procedure, but he wouldn't say it. He just kept looking at us sympathetically, saying our baby was at an increased risk of genetic complications, and giving us our options.

I was so upset. I had been looking forward to going to the doctor and hearing some happy news. Yet here we were, just a few hours later, sitting in a hospital being told that we needed genetic testing to see if something really was wrong with our "at risk" baby.

Our doctor was able to schedule us for a CVS at a clinic in Philadelphia for the next morning. They didn't want to take us at first, because I was a little over 13 weeks, but Dr. E was able to finagle us an appointment. Before the test, we met with a genetic counselor to analyze what conditions our baby may or may not be at risk for. Because they hadn't finished the scan at the hospital, they didn't have my specific risk factor calculated, but they were throwing around general numbers of 1 in 10, 1 in 6 odds of our baby having some sort of chromosomal problem. I know they weren't trying to scare us, and those numbers were based on general statistics, but man...those odds weren't very comforting (normal results on a sequential scan are above 1 in 300). We then waited another hour for the nurse to call us back for the procedure.

The doctor opted to obtain the sample through my abdomen. I don't love needles, but I was more than willing to have him stick that sucker through my stomach as long as it would give us some hard information. Colt and I knew that no matter what, we would keep this baby. But we wanted to be prepared if our he needed extra care, and we needed to know if there was even something to worry about.

Having a super long needle stuck through your stomach and into your uterus is not comfortable. In fact, it's kind of...crunchy. We can just leave it at that.

We were told it could take up to two weeks for the results to come back, although it would likely be sooner. Still, that's a lot of time to worry and panic.

The whole time, Colt was so sure everything would be just fine. So was my mom. I was too...some of the time. I went back and forth between moments of calm and being so scared for our little one. Our immediate and extended family was so supportive and kind. A lot of prayers were said on our behalf. We're very lucky.

Health is a funny thing. We hardly notice when we are reaping it's benefits; we only miss it when it's threatened. I was never seriously concerned about our baby's health, and suddenly, everything was up in the air. And I was so afraid.

We did ok the first seven days, but Day 8, I asked Colt to call the office to check on our results. I was too nervous, and I couldn't wait anymore. Wouldn't you know it, our results had come in that morning, and the genetic counselor hadn't even had time to look at them yet. She glanced them over, then told C, after nine days of worry and fear, after all of those grim statistics and dire warnings from various doctors, our baby's chromosomes looked completely normal!! A healthy 46, no more no less.

We are scheduled to receive an echocardiogram in several weeks, to check the baby's heart for defects. High NT results can be indicative of heart problems as well as chromosome complications, so we aren't totally out of the woods yet. But hopefully all will be well, and Colt and I are feeling much, much better.

Generally, people don't get to find out the gender of their child until 16-20 weeks, and I'm only 14. However, because the CVS looks at DNA, they could tell us with 100% certainty that we are having a little boy! That's been the one upside of this whole situation, besides the good results.

We feel incredibly blessed. Even though the odds were greater that everything would turn out ok (although nobody would tell us that outright), you really can't help but wonder if you're "the one." The one in two, or ten, or two hundred. To those who are, I know those children are a gift, and that they are given to remarkable and wonderful people who will be able to give them the love and selfless care they need and deserve. I reminded myself of that fact all week, because I know that it's true. I've known and worked with parents of special needs kids, and they are incredible, as are their beautiful children. But that doesn't make it easy or less scary when you find out that something could be wrong with your baby. It's still a shock, and most parents instinctively want to protect their children. It's devastating to be told that your baby may not be in perfect health, and that all you can do is wait and worry.

This is a super long post, but I wanted to write it down. This experience is one I need to remember. I know I take good health for granted; not just my own, but the health of those I love. But health isn't guaranteed, life is fragile, and sometimes you don't have any control over what does or doesn't happen to you or your family. I am so thankful for a healthy baby so far, and I need to remember to be grateful for that every single day.

I'm so thankful for our baby boy...and for every single one of his 46 chromosomes.