First, the happy news. I'm expecting a baby girl in August!
All is well now, but a couple weeks ago I was going through the most stressful time in my life.
At 18 weeks my doctor encouraged me to take a blood screening for Down Syndrome and neural tube defects like spina bifida. It's called multiple marker, triple, or quad screening. The test measures levels of different substances in the blood, like alpha-fetoprotein, or AFP. High levels of AFP can indicate a neural tube defect. Low levels are associated with Down Syndrome.
I couldn't think of a reason to decline the test. Obviously it would be better to know about any problems in advance. So I thought. I had a strong desire to walk out the door and go home before entering the blood lab. Maybe it was just hesitation about getting poked again, I don't really know. But I went home feeling overly drained and exhausted. I remember laying down on my bed the minute I got home, feeling sad and falling asleep. I think I felt powerless for not having the gumption to speak up to my doctor about not wanting the screening test.
A few days later I received a call from a nurse at the office who informed with a regretful voice that my blood results had come back abnormal, indicating a higher risk for Down Syndrome. She explained kindly for me to breathe, sit down, and realize abnormal results are false positives
"most of the time"....those words were my hope the following week while we waited for a level II ultrasound and meeting with genetic counselors.
I spent the week obsessively reading comment boards at
babycenter.com, searching for mommy blogs about raising children with Down Syndrome, and reading Martha Beck's
Expecting Adam. I was desperately seeking hope, and trying to come to an early acceptance of the imminent diagnosis at the same time. Anxiety was reduced by countless stories of women going through the same thing, who were posting the happy news on comment boards, "baby is healthy!!!" after all. But all the time, I couldn't shrug off the realization that someone is that "one" in whatever ratio the doctors give, and why wouldn't it be me? I'd had a relentless, dreadful feeling from the time I found out I was pregnant, not experienced in any of my other pregnancies. I just
knew something was wrong. This had to be it.
Ultrasound was to look for "markers" indicating Down Syndrome. Thickness of the neck, kidney or heart problems, shorter limbs, etc... We were told just before the ultrasound our risk of DS was 1 in 20. Going in expecting 1 in 250 or 1 in 100, like most of the women I'd read about, I froze, horrified. During the ultrasound I was embarrassed by my fiercely shaking legs but could do nothing to stop them. After the 30 min. exam, no markers were found for DS. And there was another good sign: a beautiful open hand showing off elegant long fingers. The image of this tiny hand would now be my biggest hope for the next 9 days of more waiting.
When the genetic counselors came in we discussed our risk of DS, and something else I'd hoped not to; a cleft lip on the baby was found in the ultrasound, obvious even to our untrained eyes. Cleft lip/palate is hereditary in my husband's family. Upsetting to find, but not a surprise.
We were told our risk for DS did not change after a "clear" ultrasound because only half of babies with DS are detected this way. There was still no way of knowing if the baby had DS without, oh I dreaded to hear it...
amniocentesis. We were offered this more invasive test, but not pressured as I'd read others had been. I was ready to leave, feeling good about those pretty fingers, but I couldn't deny Chad's sound reasoning . We'd be right back in a few days, crazy with worry...might as well get it over with. I couldn't imagine the following 5 months of pregnancy not knowing if our lives would be changed forever. I thought, worse than knowing your baby has DS is not knowing for sure. At least a positive diagnosis would allow the grief process toward acceptance to begin, rather than staying in this chronic frenzied state of paralyzing fear.
So I did the amniocentesis right then. It was uncomfortable and gross, but not really painful. The fear was worse than the needle. I squeezed Chad's hand and looked away, trying to breathe and remain calm for the 1 or 2 minutes it took. We felt assured enough it was safe for the baby, as chance of miscarriage, a reported 1 in 500, seemed too minimal for worries. Still, it's a little unsettling to know a needle is being placed directly into my baby's little home. I felt twinges of guilt for posing even the slightest risk to her, just for the sake of our emotions.
I can't even think of a word suitable to describe the 9 days we waited for the amnio results. Chad focused on staying busy to keep his mind off it. I couldn't do anything but read, think, or talk about it. Nights were the hardest. Many times I got out of bed at 2 a.m., back to those comment boards to read "healthy baby!!!" so I could fall asleep feeling hopeful. Sometimes it made me feel better to read blogs about beautiful babies with Down Syndrome who are the joy of their families. I could then fall asleep feeling peaceful, knowing it was going to be okay, no matter what. Our baby would be loved and love us, and we would still be happy. We would roll with the unexpected, brave the unknown, and love her with all our hearts. I was even a little excited to see what my little girl with DS could do, all that we would accomplish together! My imaginary DS world was mostly terrifying, but there were also some bright & shiny visions of my daughter doing things no other person with DS has ever done. We were going to be the best team! So silly where your mind can go...
After 9 days we received the good news: baby does not have an extra chromosome. She is "normal". Oh the sighs and tears...
enormous release. Just like I'd already given birth, it was that good! I'm still exhaling.
We do have challenges and a long road ahead with baby's cleft lip and palate. Chad knows firsthand the many surgeries, speech complications, and social issues our little girl will have to endure. He has lived it all. We are sad about this. And he may feel bad to have passed on this particular gene, but
she is one of the luckiest girls in the world to have him for a daddy! That sounds cliche, but I mean it with all my heart. It's the truth. And I'm going to do all I can to help her grow into a beautiful, intelligent woman with a strong self-love.
Getting back to the purpose of this very long post, the multiple marker screening. These are the statistics. I recall reading, 50 out of every 1,000 women tested receive abnormal results. Of those 50, 1 or 2 will actually have a child with DS. Some doctors do not offer the test because of it's high false positive rate and feel it causes more harm than good. Others, like mine, strongly encourage it because it's more likely to detect DS than ultrasound alone, offering parents the chance to prepare in advance.
I'm not writing this with a strong conviction either way. There is no right or wrong, and it's a personal decision. I must say, if I was going to have another pregnancy I would not choose the screening test because of the undue stress it caused me and the baby. Yet I understand I'd probably feel differently if the amniocentesis confirmed a positive diagnosis of DS. Thing is, there is such a small chance of DS, I almost think it's worth the risk of being shocked in the delivery room, to have a peaceful stress-free pregnancy. On the other hand, also a small chance of being one of the 50 in 1,000 with an abnormal result...BUT there are many cases of DS not detected by this screening anyway! See how complicated it is? It's just not an easy decision to make, but I hope this post helps someone out there. Maybe it's best, for those who really want to know, to just go for the amniocentesis. I just wish I hadn't taken the screening because without it, I would never have done the amnio, and I would not have been under so much agony and stress during my pregnancy.
Hopefully sharing all this might be a comfort for anyone else going through it. I don't know what I would have done without reading the stories of all those other women. I'm so thankful they took the time to post their experiences!
My favorite post was by a woman who did not get the same good news I was desperately hoping for. Her compassionate, understanding, seriously
perfect words hit me hard, and I cried. They worked like magic to help me see, a Down Syndrome diagnosis is not the end of the world, and may even be a blessing. I was able to feel a deep sense of peace and joy even during the worst week of my life. I really wish I could meet this woman and give her a big hug! If there is anyone at risk of, already expecting, or now raising a baby with DS...this post is for you:
yo mamma mamma.
