Friday, July 3, 2009


The twelfth week of pregnancy is an important one for us.  For many, it is simply the tail end of the first trimester, when a woman starts to feel better from morning sickness and get some energy back.  Due to the fact that my morning sickness never fully subsides, this is not why I look forward to week twelve. 

Our first baby was born in February of 2003.  Sydney Eileen was a much-anticipated, much-loved, beautiful baby girl.  We found out at a routine ultrasound (at 18 weeks gestation) that she had a fatal birth defect called anencephaly.  It is a neural tube defect that affects the development of a baby’s brain, and, in the words of my obstetrician, is “incompatible with life” outside the womb.  I don’t even want to attempt to describe how it felt to hear those words – suffice it to say it was the worst news we could have gotten.  We loved Sydney already, this tiny, kicking little person, so full of life and movement.  We had options, and struggled greatly with the choices the doctors laid before us.  It was not an easy decision, but we chose to carry her to term and fully love her for the time she was given to us, despite the fact that we knew she would not be coming home from the hospital.  We prayed for at least an hour with her, and after her birth we were blessed with just that before she gently passed.  There is so much more to Sydney’s story, but my point today is to provide a background for how thankful we are to have William, Edmund and Henry.  And to say that after drawing the 1/1000 card (this is the likelihood of having a baby with a neural tube defect), statistics came to mean very little to us.

Week twelve, according to the perinatologist I saw when we lived in Louisiana, is the earliest they can rule out anencephaly on a high quality ultrasound.  So with each of my subsequent pregnancies, this was always the first hurdle, and we looked forward to breathing a little more easily after getting a good look at the baby’s head.

At Henry’s twelve week ultrasound, the doctor assured us that the head looked good, but did not agree that anencephaly could be ruled out that early (a little disconcerting, but with a clear picture of a nice round head, we still felt assured that this baby looked healthy).  Our relief was quickly replaced with worry as the doctor continued to explain to us that the baby’s nuchal fold (a small area behind his neck) was “thick.”  This could mean a number of things.  The baby could have a chromosomal disorder like Down Syndrome or Trisomy 18, a heart defect, or it could mean nothing at all.  According to the measurement he took that day, my age (almost 33 at the time), and a chart on the wall, the chances of the baby having a chromosomal disorder were 1/40.  His point in telling us this was to reassure us – but for Scott and me, this was scary news.  1/40 was so much more likely than the 1/1000 we had already known.  He could tell we were concerned and continued to explain how “unlikely” it was that this measurement meant anything.  He recommended that I go get the blood work to go along with the nuchal screening, and assured us that the “worst case scenario” would be that the results might point to a greater likelihood, increasing our odds to 1/20 at the worst (just a side note:  the corresponding blood work is only a screening test and is not diagnostic).  We tried to stay positive as we waited the few days for the results of the screening, and many people tried to reassure us, often citing the statistics in our favor.  When the phone call came from the genetic counselor, we were shocked to learn that our odds had increased to a 1/5 chance of Down Syndrome AND a 1/5 chance of Trisomy 18.  The doctor’s statistical “worst case scenario” had been outdone.  At this point, despite the fact that we still only had a 20% chance of a problem, we were certain there was something wrong. 

We knew enough about Trisomy 18 to know it was fatal, and this became our new worst fear.  It was for this reason that I decided to have a cvs test – we just had to know whether this baby would be expected to live or not.  Much like an amniocentesis, the cvs would provide a chromosomal analysis and tell us for certain whether or not the baby had one of the two suspected (or even a different) chromosomal disorder.  The genetic counselor explained that it was unusual for the results to come back pointing so strongly to TWO possible disorders, and confirmed our suspicions that this meant that something was skewing the results, something was probably wrong.  Needless to say, we had an upsetting (and sleepless) 4 days as we waited for the final news.  The entire time, we found ourselves praying, “Please let it be Down Syndrome!”  As a former special ed teacher, I have known many wonderful children with DS and have been encouraged by their accomplishments and abilities.  This, compared with Trisomy 18, was the best news we could allow ourselves to imagine.  The call came from the genetic counselor . . .  “Your baby has Down Syndrome.  I’m so sorry,” she said.  I’m sure she expected the tears from my end of the line, but she didn’t expect the tears to be from relief and gratefulness!

I don’t know exactly what the statistics are for a couple to have a baby with anencephaly and another with Down Syndrome, but I finally realize that these figures don’t have much impact on our lives.  We are given what we are given, and I feel truly blessed.


  1. Just wanted to say 'hi' Kara! I'm friends with Andy and Heather (I'm from Cool Mom Picks as well). Your story is inspiring.

  2. Hi! :) Thanks so much for reading and saying hello! :)

  3. Ah, yes, statistics are general and real life is about specifics. I am so moved by the love you showed for your daughter. What a blessing for you all to have had that time together. I'm sure you don't feel like a hero, but you and your husband surely are.

  4. Wow, thanks Roxanne. No, we definitely don't feel like heroes. Without God, family and friends we never could have gotten through that time! I like what you said -- real life is about specifics not statistics.

  5. This is a totally necessary blog! One mom to another, I am inspired by your story and by your love. I wish I'd found your blog 2 years ago when I needed to hear from someone in a similar situation and found such a lack of personal experience info, but am thrilled to read this now. You are going to help SO MANY pregnant moms.

  6. Amy, you just made my day!! :) Thanks for that.

  7. Hello! I just found your blog and wanted to comment. Congratulations on your beautiful little Henry. I can tell you from experience that he will bring you love and joy beyond measure.

    My husband and I have three adopted children. Our oldest is Tyler. He is five and also happens to have Down syndrome. Tyler is an amazing, loving, mischievous, silly, happy little guy and I can't imagine my life without him in it.

    I'd love to link you on my blogroll, if that's okay. Feel free to come on over to mine as well.

  8. I'd love to be linked! Thanks! :)

  9. My name is Lu. I had a baby in 2002 with anencephaly and a baby last year with down syndrome. Although I didnt know she had down syndrome before she was born, your post sounded very familiar to me. My daughter is one now and still has an ng tube. I wonder if she has the same issue....
    Anyway, nice to find you. Could you look me up on facebook? I'm always looking to connect with other moms with DS babies....
    Luwana Simonsen