It was Monday, August 19, 2013, the day James and I had been anxiously awaiting for months (him for years). It was the day the American Board of Orthopedic Surgery would post the results of his final exam. If he passed, it would mean he was officially board certified. If he didn't... well... he would just be practicing non-board certified. We stalked the ABOS website all day. Neither of us could eat or sleep in the days prior! Then, a little passed 2 PM, I noticed something had changed on their site.. so I called him at work IMMEDIATELY to tell him he needed to go check. He couldn't get to a computer, so he had me click through the acknowledgments saying I Agreed to view the results. I cried hysterically and screamed "YOU PASSED! YOU DID IT!" It was such a great moment for him. I was so proud and so "I told you so.." and he was relieved, to say the least. We cried, laughed, joked and went through every emotion we possibly could over the phone. I had secretly been planning a celebration should he get "good" news, so I was ready to hang up and put those plan into motion. Hooray! James is board certified!
...but 10 minutes later, everything changed.
I had just sent the text to my family that James had passed boards when I heard my phone ring. I ran to see who it was, and it was my OB's office calling. I picked up, still giddy from our other news. "Megan, I just wanted to call and tell you that your quadruple screen came back positive for an abnormality, so the doctor would like you to come in and discuss the results with you." I struggled for words, but kept my composure to make the appointment for the next day. Excitement turned to devastation. I couldn't breathe. I couldn't speak. I immediately called James, who answered the phone with such joy.. and I couldn't stop crying long enough to tell him. Something is wrong with our baby. I don't even remember what he said, to be honest, then I called my mom. I was already 17 weeks pregnant. I could feel the baby's little flutters, for goodness sakes. How could something be wrong? We spent what should've been a celebratory night crying, comforting, worrying, researching, crying some more, and sleeping... none. The next day, we met with our doctor and came away with way more questions than answers.
The quadruple screen measures the probability that your baby will have a chromosomal abnormality such as Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Down Syndrome (Trisomy 21) or a neural tube defect (Spina Bifida, anacephaly, etc). Our positive result.. was for Down Syndrome. A "normal" result for a woman my age is a 1:4000 chance. My result was 1:129. We were given the option to do nothing or to be referred to a perinatologist in Wichita for a level 3 ultrasound and amniocentesis, which would confirm the results almost 100%. We would wait over TWO WEEKS until that appointment.
They were.. the hardest.. most emotional.. sleepless.. worrisome weeks of my life. I spent a lot of time crying. A lot of time praying. A lot of time asking God "why?" I researched. Read message boards of parents with Downs kids. Read testimonials of moms who got a "false positive" quad screen. Most days were spent in a cloud of anxiety and depression. We spent a lot of evenings clenched to each other and our kids. If it wasn't for Unisom, I wouldn't have slept. James did better because he stayed busy through work, but I could tell he was hurting. He describes the experience as "doctor versus dad" :: the doctor in him said this is just a screen and we don't know anything for sure, while the dad in him was freaking the f*** out.
On Monday, August 26, we had a sonogram with my regular OB previously scheduled, where we were to find out the sex of our baby. It seemed so irrelevant at that point, you know? We kept the appointment, hoping to find out at least some crucial details about our baby. Was there a brain? A 4 chamber heart? A 3 vessel cord? 2 arms, 2 legs, 10 fingers, 10 toes? Worst case scenario was that the baby had severe deformities and wouldn't be ours to keep. Best case scenario was a false positive and we would have a perfectly healthy baby! The scan started like all the others. There was a baby in there, which was the first sigh of relief. Our tech was talkative at first, pointing out that our baby had two kidneys, was swallowing fluid (which is good), 3 vessel cord, 4 chamber heart (50% of DS babies have a heart defect), but as we got higher, the tech got quiet. At that point I said "just so you know, we have a positive marker for Down Syndrome," to which she replied "I did see that in your chart." We had gone over the head, brain, spine with little comment. She asked if we'd like to know the gender, and we said sure. She was in the "area" and I said before she could.. "it's a girl." We left that appointment with very few pictures: an alien face, a crotch shot, a foot picture for James... and even more questions. I felt like something wasn't right.
What do I know about raising a child with Down Syndrome? Do we have the resources in our area to help? Is it fair to our other kids? Can I handle a 5 year old, 20 month old and a "special needs" baby? How will it affect our marriage? Will James be supportive? Can he handle it? Can I? Will she have a good life? If something happens during the amnio and she dies.. can I live with myself?
When Friday, September 6 finally rolled around, I was physically, emotionally, spiritually, and mentally exhausted. We had 3 appointments that day, beginning at 8:30 am. The first was our level 3 sonogram, followed by genetic counseling, then meeting with the doctor and the amnio.
The hour and a half drive to Wichita was early and silent. There were few words left to be said. It was in God's hands now. What our baby girl was or wasn't was already growing in there.. it was just for us to find out. We got about halfway there and I told James I didn't think I could do the amnio. I told him we would deal with whatever was in there and we would love her no matter what. Why did I *need* to know, anyways? Everything I had been feeling over the past couple weeks.. anger, disappointment, shame, guilt, worry had turned in to what felt like acceptance. I knew I could do this! I can do anything. This is OUR baby, dammit, healthy or otherwise. I remembered my dad laying out 129 toothpicks, only 1 of them red. James said it was my body and up to me, and he would support me and love me no matter what I decided.
Our first appointment was with Rachel, our sonographer. The level 3 sonogram would last longer and be more detailed than at a regular OB's office. And was it ever. She made it very clear she would tell us what she was looking at, but could not tell us "normal" or "abnormal." There was so much to absorb.. those 30 minutes felt like 30 seconds. To think, this baby is just under 1 lb, and she had such detail in all of her organs. 30 minutes passed and we STILL did not have anything except that damn scary alien picture of her face. I rolled to my side and repositioned, and sure enough.. we got the perfect picture of her little profile. James felt relieved after the sonogram, and I... felt just a smidgen better.
In genetic counseling, we went through a lengthy and thorough family history for both James and I. Every type of cancer, every type of learning or behavioral disorder, every heart attack and migraine all the way to our first cousins! The nurse practitioner came in and talked to us about our three options: 1) we could do nothing. 2) we could do the amnio and know almost 100% once and for all. 3) we could try a "new" test called MaterniT21, also known as cell free DNA. It's just a blood test and way less invasive than the amnio, but again, it's just a "screen" and if those results were positive, they would want to do the amnio. She left the room and let us discuss. I REALLY wanted the cell-free DNA test. After all, there is a 1:129 chance that she has Downs... and the amnio carries a fetal loss rate of 1:200-500, depending on which statistic you use. A simple blood draw was much more comforting than a needle through my belly!
A little while later, the doctor came in. The first thing she said was "YOUR SONOGRAM WAS NORMAL." I sighed the sigh of ultimate relief, until she picked up a yellow post-it note off my chart, handed it to her nurse practitioner, and said "but what about this?" The nurse practitioner left the room and I was still relieved, but a little confused. I know the doctor was talking, but I was too focused on where the nurse went to hear what she was saying. She came back in, handed the doctor the post-it back, and then boom.. it hit us like a punch in the gut. "The baby's femur and humerus length are "soft markers" for Down Syndrome.. and your baby's measured very small. You are 19 weeks 5 days pregnant, and they only measured 18 weeks 2 days. So when we put that in the computer, your new risk of having a Downs baby is 1:33." Shit! What?! Wait.. WHAT? I looked at James and he looked just as surprised as I was. 1:129 was way more comfortable than 1:33. I kept thinking "but I should be 1:4000!" The doctor asked what we had decided to do next, and without even confirming with James, I said "I'm tired of all this screening bullshit, let's do the amnio and get an answer!" The doctor gave me a high five and everyone laughed, and they left the room to prep for the amnio.
This was quickly becoming my worst nightmare. We sat in the waiting room and I couldn't breathe. I didn't know what to think. We had spent the last 2 weeks convincing ourselves that everything was FINE.. and in a split second, everything was not. We went back to the procedure room and got me prepped. The procedure itself is delicate yet quick. The doctor uses the ultrasound to guide a spinal needle through my abdomen all the way into the amniotic sac, withdraws a syringe of amniotic fluid, and it is sent to the lab for a chromosomal analysis. They go THROUGH my stomach all the way to the baby. What if they hit the baby with the needle? What if she moves and touches it? What if her heart stops beating? I had asked all of these questions and knew the answers, but the answers seemed not good enough! Rachel came back in with the consent form I needed to sign before the procedure. She left and I completely fucking lost it. I bawled hysterically as I read through the consent and signed that I acknowledged that a fetal loss could occur. It was the lowest of the low. I feel guilty even writing that I signed it, but people sign them before every surgery acknowledging they could die, but this seemed so not fair. The doctor came in, and I couldn't watch. The needle poke itself was uncomfortable but not painful. It was over before I knew it. They did not go ANYWHERE near the baby. She took the needle out and Rachel put the ultrasound thingy back on my belly and I heard the baby's heartbeat immediately. She had survived the procedure, and there are no words to describe that relief.
We left the office and the cramping began. It was intense and awful. After two natural childbirths, I can say the cramping was worse than labor. It lasted about 30 minutes before I felt any relief, and 2 hours until it went away. So now we wait. The preliminary results would be back in 3 days, the second panel in about a week, and the full analysis would take 10 business days.
On Tuesday, September 10, at 9:30 am, I got the call. The amnio was negative for Trisomy 13, 18 and 21. On Wednesday, September 18, I got the call that there were no chromosomal abnormalities of the sex chromosome. And finally, on Friday, September 26, I got the call that the full analysis showed we are having a perfectly healthy baby girl. (!!!!!!!!!!!!!!!!!!!!!!)
I share our story for a couple of reasons. First is to document our very real, very emotional journey. Two, because there is a small chance that someone reading this has gone through or will go through the same thing. I understand this is a sensitive and sometimes political/religious topic, and I apologize if you walk away from this offended. We learned a lot through experience, but I make no apologies about the way I felt or how I handled it. Sometimes, we prepare ourselves in our minds for how we *think* we would handle a given situation, but when you're actually in it, you might be surprised. So where do we go from here?
Now, at 24 weeks, we are in the healing process. The emotional toll this took on me and us didn't go away overnight. The questions that remain are about the necessity (and accuracy) of the quad screen, and I still wonder if she will indeed be healthy. {that's just the mom in me} {also, the shortened bone marker was explained as a "measuring error"}
Healthy or not, we are so overwhelmed with love for this little lady, our beautiful baby girl... the little drama queen she's already promising to be :).
