When the Genetic Counselor Calls

We recently found out we’re having another boy.

It happened a little earlier than normal because I got a call from the genetic counselor. She said I needed to come in for a detailed ultrasound and possible amniocentesis: Our test results showed a higher-than-normal risk for Down Syndrome.

I had done the sequential screening test (they measure the thickness of the baby’s neck with ultrasound and then take blood samples from the mother at two different times to look at hormone levels). Our results showed a one-in-two-hundred chance of Down’s.

Half a percent? That sounded good to me. But apparently for someone my age (almost thirty) it should be one in 700.


I called my friend Dierdre who is pregnant with her third boy. Dierdre has done all the mid-pregnancy tests, and gotten all manner of results, and so far (knock on wood) everyone is healthy and happy. If Dierdre hasn’t gone through what you’re going through, she knows someone who has.

Dierdre’s first rule is don’t look on the Internet. So when my husband said, “Let’s look online,” I said, “NO WAY!”

Too much information. We’re awash in it, and our pregnancies are marked by blood draws, ultrasounds, amnios, hormone measurements… Don’t get me wrong, I think these are all wonderful tools. In fact, the high-risk clinic told us that because of all the additional screening that’s done, they’ve been able to actually cut in half the number of invasive procedures (like amnio) they perform during pregnancy.

But that’s the logical side. Then there’s the emotional side.

You worry during pregnancy. You worry before getting pregnant. For many people, pre-conception is one of the loneliest, most invasive, and most emotionally wrenching parts of building their families. We were lucky and got pregnant very quickly, but you still worry. My former boss said that pregnancy is the start of a lifetime of worry. It’s true, and I’m pretty laid back.

So anyway, when I heard that our odds of Down’s weren’t normal, that I needed to come in for extra testing, my logical side thought: everything will be fine; you’re already so blessed to have Mr. Pants and to be pregnant again with little fuss; our family can get through anything; the odds are so small anyhow.

But then I hung up with our friendly, neighborhood genetic counselor, and cried big cries.

I think others out there will empathize that after a call like that it feels like a really heavy, old, dusty theater curtain just dropped on top of you, and you’re waving your arms around, trying to get it off.

My midwife suggested reading the book Expecting Adam by Martha Beck, about the author’s very magically real experience of carrying Adam, her son with Down Syndrome. Granted, our odds were so small, but my emotions needed a deep tissue massage, and this book was perfect. I would highly recommend it.

A week later, I went in for the testing. We opted not to get the amnio. These are all very personal decisions and I am adamant that there’s no right way. Families may want the chance to choose to have the baby or not; they may want to know for sure what to expect and get prepared. The bottom line is that it’s up to you.

For us, the extra-detailed ultrasound showed no heart or palate abnormalities (about 50% of Down’s babies present physical symptoms in ultrasound), so the doctor said he could take the chances down to one-in-four-hundred. A half of a half of a percent.

Who knows what will happen, but my friend Dierdre would say that if you were a bookie, those would be pretty damn good betting odds. And we got one nice surprise out of all the stress: our ultrasound showed in extra detail that it’s another boy for the pack. That made us smile. We’ll be taking him however he arrives.


27 responses to “When the Genetic Counselor Calls

  1. Wow! That’s super-scary. Congratulations on your second little man. They’ll be great friends growing up together 🙂

    • Thanks, Bridgit! You’re the expert. 🙂 You’ll have to share your tips on raising two. There’s no going back now, so I need all the help I can get!

  2. I’m practically a professional worrier, and I don’t even have kids! I know what it’s like, but don’t let the worry fester and make you looney. From an outside perspective, those odds sound minuscule to me. I’m sure everything will be fine!

    • You know what might help? Some homemade cheddar. Mmm! I think the baby would like that. 😉 Since this was a month ago now, I’m feeling much better and am focusing on just enjoying the pregnancy and getting in my naps. A good nap generally helps with all the worries. 🙂

      • Yep, naps are great for worrying… sometimes it really helps to be unconscious for a while!
        Did you read my response to your comment on my blog? About the “groaning cheese”???

  3. Ev- This made me cry, but they were happy tears because I am related to such an amazing women =) We will be praying for you guys!

    • Thanks, Brit! You know, the chances are so low, but still you are thrown into envisioning your life in a new way. That’s always good for us, right? So glad you will be back in the NW when the baby is little!

  4. Sharon Sinton

    Evelyn- Your stories are so personal- and written with such humor 🙂 I really enjoy every read…. and look forward to someday comparing notes while conversing in “the mommy talk”. Oh, and Your Men sound like great folk- perfect for hugging on- and I hope you are collecting your due squeezes right now 🙂

    • LOL. Definitely getting the “due squeezes,” even if I sometimes steal them from an unwilling K-Pants. Thanks so much for reading the blog! I can’t wait to compare mommy notes with you. In the meantime, I know you have some great recipes you might think about sharing… Just let me know!

  5. What a great post, Evelyn – thanks for sharing. I’m glad you were able to take the time to think through what feels right to you. Thinking of you lots 🙂 ehug.

  6. That is absolutely a scary thing. But they are good odds. And it sounds like regardless of how your precious baby boy arrives, he’ll be arriving in a loving and welcoming family.

    • Loving, welcoming, and full of chaos and craziness. 🙂 You have definitely gone through your family stretching and growing like taffy in all kinds of ways, so I’ll continue to look to your openness and honesty.

  7. Evelyn, odds to me are just numbers. You are correct…It is a personal decision and whatever you opt to do you and your husband and family will be fine regardless. I will keep you and yours in my prayers on the mountain. Children are a gift and we learn from them much more than they can learn from us, I think… 😀

  8. Evie, you never cease to amaze me. However “little fuss” arrives, and whoever he turns out to be, he will have an amazing Mom and be lucky to be part of a wonderful family. My positive thoughts go to you all…

  9. Ev — Thanks for sharing. I know that whatever happens, you all will handle it with grace and strength.

  10. This post made me cry happy tears. I am so blessed to have a friend like you.

  11. beautiful writer, beautifully written, beautiful family.

  12. K-Pants and Li’lFuss are lucky to have you. Great post!

  13. E,

    I would regale you with some of my food if you were closer. I can offer only prayer and thoughts for now. I give you a hug and a pat on the back. There, there. All better? Now, let us adopt an AA saying “Let go and let God.” I suck as a support don’t I. (rhetorical, feel free not to answer)

    Love you so, so much and be strong.

  14. Aw Evelyn, such an emotional blog written from the heart. I’m thinking about you guys and know that whatever happens I can’t think of a better family to handle whatever comes with love and care.
    All the Best, Bridget xx

  15. Oh, wow. What a day. I was “Advanced Maternal Age” with my daughter (such a lovely term for someone barely 35), so had all the extra screenings. The whole thing is stressful no matter what. For now, it’s clear that your heart and mind are in the right place — and just trust that your body is doing it’s own magic, too.

  16. Hugs to you, my darling! Missing you xx

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