Posted by: Hallie Levine | December 10, 2010

Genetic Testing

After we announced this pregnancy, we got a few discreet (and some not so discreet) inquires about our prenatal testing. And since answering the question is starting to get old, I’ve decided to lay it out here, once and for all, on this blog.

Yes, we did do genetic testing. We had a procedure done called CVS, which is similar to an amnio but can be done in the first trimester. It’s considered slightly riskier than an amnio, although the medical center where I had it done has the same miscarriage rate for both procedures—about one in 400.  

The reason we did it is simple. I didn’t have genetic testing done with Johanna, although I had all the requisite blood work and ultrasounds (which pick up about 90% of cases of Down Syndrome). Everything came back normal–we were a rare case of a false negative. When we did genetic counseling after Jo Jo’s birth, we were told that the risk of recurrence was about one percent, which is, all things considered, a pretty low risk. But there was a slight catch. We had about a two percent risk of having a baby with any sort of chromosomal issue, like trisomy 18 or 13. “The theory is something’s going on with the eggs to make them stickier, so the chromosomes have trouble separating,” the genetic counselor explained.

The reality is, plenty of women who have kids with Down Syndrome decide not to do genetic testing in later pregnancies, and everything ends up fine.  But I and my sticky eggs weren’t really comfortable with those odds, or, more specifically, the odds of another chromosomal problem. Most of the other trisomies are fatal, and I didn’t want that diagnosis thrown at me in the delivery room. We scheduled the CVS for thirteen weeks, right after we got back from vacation.

At eleven weeks, I went in to my ob/gyn’s office for a checkup. I had had a quick ultrasound a month earlier to date the pregnancy; the baby was just a blob on the screen. Today, I could make out a head and a tummy and little legs as it bobbled around. “Will you look at that?” my doctor beamed as he watched it on the monitor. “Looks great.”

I stared at the screen, mesmerized. So far the pregnancy hadn’t seemed real to me, other than the frequent bouts of vomiting and the ever present exhaustion. Now, seeing the baby do somersaults, it really hit me. “I’ll be glad when I’m out of the first trimester and the CVS is behind me,” I told him.

“I can understand that,” he said as he wiped goop off the ultrasound wand. “Although I expect everything will be just fine.”

Now that he brought it up, I figured it was as good a time as any to pose a question I’d always wanted to ask him. “Have you ever seen it happen twice?” It, meaning of course, Down Syndrome.
               

“Nope,” he said, shaking his head.

It was a reassuring answer, but I had to press on. “What about something else chromosomal—like trisomy 18 or 13?”

He shook his head again. “Never seen it. Usually if there is something chromosomal going on,” he continued as he switched off the monitor, “the woman has a miscarriage early on in the pregnancy, often even before she knows she’s pregnant. So, yeah, sure, in theory something could happen again, but I have to be honest, the risk is very, very low.”

Again, it was reassuring to hear, and stuff I intellectually knew. But as I walked out of his office I was thinking about the woman I’d stumbled upon on a message board 22 months earlier—while we were waiting for Teddy’s CVS results to come back—and wondering what happened to her.

I’d been much more nervous during my pregnancy with Teddy. I conceived when Johanna was only eight months old, when her diagnosis was still raw and fresh in my mind. I felt guilty, traitorous, even, for having CVS done. Rationally, I knew it made sense. We already had one child with special needs, there was a slim—but possible—chance something chromosomal could happen again, and we needed to have as much information as possible early in the pregnancy so, if need be, we could make some hard decisions.

 But the question still nagged at me. What did it say about us that we were having genetic testing done? Were we negating our daughter, her worth, her existence?  

A few days after the CVS, I couldn’t sleep. I went online and googled trisomies and pregnancy. Most of the stuff I already knew, studies about recurrence rates with similar statistics as the genetics counselors had spouted to us. But then I found a post on a message board from a woman who already had a child with Down Syndrome who had just learned she was pregnant with a baby with Trisomy 18.

And just like that, I was sucked in.

I was familiar with the site. It’s a popular baby site that has plenty of message boards, including a Down Syndrome board, which I occasionally visited. But the woman hadn’t posted on the Down Syndrome board. She had just posted on the terminations board, only hours earlier.

It was her third pregnancy. She had learned, fairly late in her first pregnancy, that her daughter had Down Syndrome. Her second pregnancy had no issues. But this time around, in her first trimester, she had gotten CVS results back and learned that the baby she was carrying had trisomy 18. She had just scheduled her termination. It was the hardest choice she had ever had to make, but she felt that she had no other option. It was highly unlikely the baby would survive the pregnancy, and if it did, it would most likely die within hours after she gave birth.

She didn’t want to be here on this board, she wrote, especially since it was hard for her to read that so many women on there weren’t continuing their pregnancies because they had learned their babies had Down Syndrome. But she didn’t know where else to go. She couldn’t post on the Down Syndrome message board, where she usually went for advice—it seemed that most of those women did not support abortion. She couldn’t go to her friends, many of whom also had kids with Down Syndrome, since many would not agree with her decision. She felt like she had nowhere to turn, and she was in so much pain. She was just in disbelief that it had happened twice.

Reading that post, I completely felt for that woman. It had to be the most agonizing choice she had ever had to make. You could just feel the anguish slipping off the page. And I related to it. 100%.

I debated whether or not to send her a private message—it seemed invasive of her privacy—but I finally did. I wrote that I also had a child with Down Syndrome—a baby girl that I loved very much—and that I was waiting for CVS results from my second pregnancy. I wanted her to know that I understood where she was coming from. There was another mother out there who had a child with Down Syndrome who did not judge her. I hoped that once this was behind her she would try again.

She responded almost immediately. She felt badly that I had seen that post, because she didn’t want me to worry about my pregnancy. Her second pregnancy had been fine, and she was sure mine was, as well. Yes, it had been a difficult decision to make. She was so glad that I had reached out, that there was another mom with a child with Down Syndrome who understood. Yes, they would definitely try again.

I meant to email her back but things got hectic. Johanna and I left the following morning to visit my sister in DC. We got back late Sunday night, and by Monday afternoon I had gotten a call from a genetic counselor and learned that I was having a typical pregnancy.

I had forgotten about the woman until now, and as I got into my car I wondered what had happened to her. I wondered if she’d gotten pregnant again, and had a third child. And although the rational part of my brain reminded me that it was highly, highly unlikely, I wondered what Jamie and I would do if we were faced with the same decision.

Almost two weeks later, I had the CVS. Our genetics counselor was young and bubbly and looked like Molly Ringwald. I had decided to bring a barrage of positive PR material about Down Syndrome, including a flyer for a local support group I was involved in, Johanna’s birth story, which had run in the October 2008 issue of Baby Talk, and this month’s issue of Parents magazine, which had my essay on Johanna. The counselor was thrilled. The support group information they had in the office seemed outdated, she explained, so she knew the office would be glad to get more up to date materials.

By the time we actually got the CVS room, it was feeling more like a party than a medical procedure. Somehow a couple other copies of Parents had made their way in from the waiting room, and the ultrasound technician was exclaiming over how cute Johanna was with her wispy blonde hair and little outie belly button. “I saw a little girl with Down Syndrome the other day at a restaurant who looked like your daughter, with the same blonde hair and button nose,” she told me. “She was just sitting there so nicely and well behaved, looking around the room with her big blue eyes taking it all in. Just adorable.” She sighed. “Let me tell you, those kids are just so happy. It’s great.”

Jamie looked at me and rolled his eyes. I knew what he was thinking. These days, Johanna won’t sit still in a restaurant—she’s too busy singing, or throwing food, or trying to bop Teddy on the head with her straw cup. It was yet another gross oversimplification of kids with Down Syndrome, but if that’s what the tech thought, so be it. She could be thinking much, much worse things.

 The doctor came in with another, younger female physician who wanted to observe the procedure. Were we okay with it? Yes, we were. The woman doctor was moving from Connecticut to work at the same Boston hospital as two of my college roommates. I joked about getting a tummy tuck after this, my final pregnancy. I was conscious of the needle going in but before I really had time to think about it (other than to notice a slight cramping) the CVS was done. “That’s what I call a piece of cake,” the doctor said as he capped up the vial. “In and out.”

Six days later, the bubbly genetics counselor called with the results. It was good news. Did I want to know the sex?

I did.

We were having a boy.

I cried, and then I thanked her. She thanked me, as well. They had had a genetics meeting the day before, and she had showed all the material I’d brought to the other counselors. They were so happy to have the support group information, and so moved by all my articles. They would definitely pass the materials on to any expectant parents they counseled.

All good news, of course.

I called my husband and then a couple hours later announced the pregnancy on facebook. The congratulations flowed in. I told Jo Jo and Teddy they were getting a little brother. “Baby,” I said, pointing to my belly. “Baby.”
               

Jo Jo broke out into giggles. “No,” she said, shaking her head and looking at my stomach. “No baby.”

Teddy tottered over to Jo Jo’s baby crib and began throwing her dolls out. “Baby!” he shouted, dropping one on its head. “Baby!”

Obviously both of my kids were too little to grasp the pregnancy concept.

It was a joyful moment. But later that night, I thought again about her, the woman on the message board. She’s not an anomaly. There are others like her out there. Hopefully they have strong support networks, people they can turn to who will support them no matter what their decision will be. It’s disquieting to think of women skulking around message boards, being made to feel ashamed for what is unquestionably an agonizing decision.

It just makes clear, at least to me, that when it comes to prenatal testing, there are no shades of black or white. Like so many other things in life, it’s really all shades of gray.

If only everyone could understand that.    

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Responses

  1. I love your honesty. You were helpful when I was debating if we should have a third or not. I love my buddy – extra chromosome and all – but the fear of other Trisomy’s as well as the demands of 2 special needs children is certainly a concern.

    So happy that your family is growing. May the nausea pass and the delivery be a piece of cake!

  2. When I had Avery I was 21 years old. Having another baby with Down syndrome was a 1 in 10 chance for me. When I got pregnant with Wyatt (when Avery was 6 months old) the number one question was whether or not I’m going to ‘find out.’ Not the sex…everyone wanted to know if I was going to find out if he had Ds. I found it insulting. It was a shadow over my pregnancy. I chose not to find out, I regretted my decision in the last three months. I was absolutley sick with worry and guilt. I did find out that he had a single umbilical artery when I was about 6 mo. along. That is a marker for T21 and T18. He didn’t have either, but the anxiety was terrible. I think I was pretending it didn’t scare me, so much that I actually convinced myself in the beginning, but as soon as the nurses left us after the delivery we unwrapped him so fast and checked his hands his eyes, his toes. I’ve never told anyone that. I know if I ever have another baby I will opt for the testing.


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