Our Story

My husband Chris and I already had two beautiful, healthy children and were pretty sure we were done having babies when we found out--SURPRISE!--we were pregnant. It wasn't an ideal time--we had just celebrated our daughter's FIRST birthday and had never planned to have babies that close together. But there it was, and after a week or two of letting the news settle, we began to let ourselves get excited about the new member of our family. I started buying tiny baby things on eBay, and we discussed (argued!) the topic of names. We told our families, and everyone was thrilled. We started to think that maybe this deviation from our plan was better than the original plan.

In mid-December, at 10 weeks pregnant, we went in for our first visit with our OB/GYN. Dr. K was someone I had known for years, worked with, and trusted completely, so he was the natural choice to deliver our baby (again). He joked with us that it was people like us who kept him in business, then pulled out the little Doppler so that we could listen to our little one's heartbeat. But after trying for several LONG minutes to find it with the Doppler, he told us he needed to do an ultrasound. My heart immediately jumped up into my throat. Dr. K assured us that it isn't uncommon not to hear a heartbeat on Doppler at 10 weeks, but we had heard both of our others babies' heartbeats at 8 weeks, loud and clear. I could tell Chris was worried, too.

We finally got moved to an ultrasound room, but the ultrasound tech was already gone for the day, so Dr. K had to do the exam himself. He apparently wasn't very familiar with the machine, because it took ages for him to even get a picture to come up on the screen. Finally, there it was--our little jelly bean of a baby, and a tiny beating heart. Relief flooded over me as Dr. K told us the heartbeat was strong and perfect. He did mention that, since he'd worried us so much, he'd schedule another ultrasound for our next appointment in January.

I was 14 weeks pregnant when we went for our next visit. The ultrasound was scheduled to be just before our appointment with the nurse practitioner, who was to see us that day instead of Dr. K. We had read online that gender prediction was sometimes possible at 14 weeks, and although I was really wanting to wait and not find out, Chris wanted to know. So we were hoping we could find out that day.

The ultrasound tech was the same girl who'd shown us our first two babies. The first thing she told us was that it was still very early, but there was a chance she could tell us the gender. The very next thing she said was, "It's definitely a little boy!" I was THRILLED. Our son, who was 5 at the time, had been hoping and praying for a baby brother.

The technician didn't say much for the rest of the time we were in the ultrasound room. She continued making pictures of the baby, who was looking less like a jelly bean and more like a teeny alien lifeform. Chris said afterward that he could tell she was taking way too many pictures and looking way too intently at the screen, but I was thinking about the news that we had another little boy and didn't notice.

When we left the ultrasound room, the office staff immediately told us we'd be seeing Dr. K instead of the nurse practitioner. They made it sound like a scheduling error or something, so I still wasn't catching on that something was wrong. It wasn't until I saw the look on Dr. K's face when he walked into the exam room with a handful of our baby's pictures, that I knew we were being handed bad news.

I don't remember much of what he said. I remember he somehow told us that there were what appeared to be two large growths on the back of our baby's neck on either side of his head. He used the term "meningocele" as a possibility, but then he point blank told us he had never, in 40+ years of being an OB/GYN, seen an ultrasound finding like ours. He told us he was going to refer us to the best perinatologist in the state, who happened to practice at a hospital only 70 or so miles from our hometown. Then he prayed for us. I think that's what hurt the most. Him thinking it was bad enough to pray for us.

The shock was incredible. When you've had two completely boring, uneventful pregnancies and two perfectly healthy babies, you just assume that's what's going to happen the third time. We walked into the clinic that afternoon wondering whether we'd need blue or pink clothes, a boy name or a girl name, and walked out not even knowing if we'd be having a live baby. My cell phone was ringing all the way home with family and friends wanting to know the gender, and I didn't know how to tell them that the gender was completely insignificant now.

Chris and I responded to the news in completely opposite ways. I was hopeful. Chris seemed resentful and closed off. He kept saying how the growths looked as big as the baby's head and how he couldn't make a child come into this world with that kind of problem. Those words were like stab wounds to my heart. I already felt so much love for our tiny baby and just wanted him to be born, no matter what problems he might have.

It turned out that our perinatologist was on vacation for THREE WEEKS and then booked for a week after that, so we wouldn't be able to see him until February 15. I don't know how we got through that long, painful month, but we did. I can't even tell you how many times I rubbed my thumb over the growths in those ultrasound pictures, wishing I could erase them away. I felt like I was in mourning. It didn't help that no one seemed to want to talk about the baby anymore. Everyone acted like I was no longer pregnant, like talking about my baby was off limits. I hated it. I wanted--needed--to talk about him.

Finally the day of our appointment came. We walked into the LSU Women & Children's Center that morning, me hopeful for a miracle and Chris expecting the worst.

They didn't keep us waiting long. I watched breathlessly as our baby, looking more like an actual baby now, appeared on the ultrasound screen. My heart absolutely SOARED as I realized the growths were gone. At first I just thought maybe they were much smaller in relation to the baby now, but the ultrasound tech kept searching all over and finally confirmed that they were nowhere to be found. Completely gone. Chris squeezed my hand. We were both thinking we'd gotten our miracle.

Enter the perinatologist, who would crush our souls with what he told us that day. The growths on our baby's neck had been cystic hygromas, and yes, they were gone now. But the fact that they had resolved spontaneously, he told us, didn't mean much. Our baby still carried the diagnosis of fetal cystic hygromas, and the prognosis of that diagnosis is not good.

The doctor told us that the presence of fetal cystic hygromas is an indicator of a chromosomal abnormality in at least 50% of cases. Usually babies with cystic hygromas either have Down's Syndrome or Turner's Syndrome. Only females have Turner's Syndrome, so we didn't have to worry about that one. But in addition to the cystic hygromas, the doctor had identified on the Level II ultrasound that our baby also had short femur length in relation to the rest of his body and what looked like a hole in his heart. Both of these are "soft markers" for Down's Syndrome. He explained to us that it was probable that our baby had Down's Syndrome--somewhere around 60 to 75%. By the look on his face when he gave us that percentage, I had the sinking feeling that he was thinking the likelihood was much higher than that. We were encouraged to have an amniocentesis done that same day to rule out chromosomal abnormalities. I had to know, so we did it. I cried through the entire procedure, not because the needle hurt (although it did), but because I was so heartbroken for our precious son. We had also been told of a risk of miscarriage with amniocentesis, so I was saying, "I'm so sorry, little baby" over and over in my head, praying that I wasn't letting them kill my baby.

After the amnio was over, Chris and I were ushered into the doctor's own private office. He explained to us that the preliminary amnio results would be ready either later that day (Thursday) or the next morning (Friday). We would be called immediately when the results came in. If the results were unfavorable, he explained, he would then schedule an appointment with us to discuss our options. He told us that, since I was 18 weeks along already, we would have to terminate within the next two weeks if that was our decision. I was taken aback by the fact that he seemed to expect this decision from us if there was any sort of problem.

We were also scheduled that day for an appointment with a leading fetal cardiologist in our state, who would make a special trip to the clinic to evaluate our baby's heart in one month. We left the clinic with heavy hearts, waiting on the phone call that would change our lives.

When it neared 5:00 PM that day, I called the clinic to check on the results. I was told by a nurse that the results would be ready the next morning and to call back then. After the worst night of sleep I've ever had, I called the clinic bright and early on Friday morning. I was told that something had gone wrong with the test, and it would have to be repeated later that day. Thankfully, they had reserved enough amniotic fluid so that another amnio would not be necessary.

I made myself wait until 3:00 to call back. No answer. 3:15. No answer. I obsessively called every 10-15 minutes, leaving message after message, until 6:00 PM rolled around and Chris convinced me to give it up. It was Friday. Even worse, Monday was a holiday (Presidents' Day).

I cried all weekend. I took three showers in one day, just so I could cry without my other children knowing. I found articles on the Internet about cystic hygromas and chromosome abnormalities that made my stomach hurt and my heart ache. I talked to my little boy, begging him to be okay.

Finally, on Tuesday morning, the phone rang. It was a nurse from the clinic. I'll never forget that conversation as long as I live. She said, "Are you sitting down?" I braced myself for bad news. Her next two words were and are the most beautiful words I've ever heard: "Normal male." I cannot accurately put into words what it felt like to hear that. Normal male. Our miracle.

That's not the end of our story. We still had our appointment with the fetal cardiologist to worry about. My mom went with me to that one, since Chris was gone for work. She was sitting beside me while cardiologist explained fall-out artifacts to us. Basically, our perinatologist had seen a shadow of some sort, not a hole. Our baby's heart was fine. Better than fine. Perfect.

We got to see 3D images of his sweet face that day. Like his heart, his face was perfect. He already looked so much like his daddy and his big brother.

We were told that day by our perinatologist that more bad things could happen. Cystic hygromas are commonly associated with a condition called fetal hydrops in the third trimester. This condition is almost always fatal for the baby. We'd have to continue to watch for that, having monthly Level II ultrasounds.

This condition never came to be. In fact, other than failing my one-hour glucose test, having to undergo fetal non-stress tests every two weeks, and having a little less fluid than normal for a couple of weeks, the remainder of my pregnancy was normal. At our last scheduled Level II ultrasound, as our perinatologist finished up the scan, he told us, "Send me a picture of this baby after he's born." He released us that day to go back to our regular clinic and Dr. K. We prepared for a normal July delivery, hoping our sweet boy would be born healthy.

The light of our life was born at 2:11 PM on Monday, July 16, 2007. The first thing I asked was, "Is he okay?" And he was. Better than okay. Perfect. 8 lbs. 4 oz., 21 ½ inches, and not a single indication that he'd ever been anything less than completely perfect.

Gavin will celebrate his first birthday next week. He is a redhead with the chubbiest thighs and the most intoxicating laugh. He loves music and dogs and the water. He just started taking his first wobbly steps a couple of weeks ago. He is our constant reminder: When things seem hopeless, hope.

I hope Gavin's story will give someone else a reason to hope.



UPDATE: I wrote this story almost a year ago. Gavin is now a big healthy nearly 2-year-old. He is busy talking and trying to keep up with his big brother and big sister. He is the light of our life.

I want to encourage anyone who has a similar story of hope relating to fetal cystic hygromas to please please please drop me an email at sinceoctober@yahoo.com so that I can post your story here as well. The more hope we can give parents with this diagnosis, the better.