Anyway, on with the story! So, we finally got our big fat positive on a pregnancy test and even saw our little bean on ultrasound. Soon I was released from our fertility specialist and had my first appointment with a regular ol' obstetrician. We got another ultrasound since it was our first appointment. I couldn't believe how much the baby had grown! He looked like a real baby!
Cooper at 10 weeks 6 days pregnant (first OB appt.)
We were over the moon watching him move and seeing that gorgeous little life! Oh and the swoosh of the heartbeat- bliss!
After our ultrasound, the doctor talked to us about everything and gave us our due date of January 4, 2012. He also mentioned that there was an area behind baby's neck called the Nuchal Fold that looked to be a bit increased which could signal a condition like Down syndrome. He said it was probably nothing but recommended that we undergo First Trimester Screening just to double check. It was a bit ironic as I’d recently attended a maternity fair at our local hospital and sat in on a class detailing that very screening. First Trimester Screening is an ultrasound to check that space behind the neck among other things and some simple blood work. Please let me say very loudly:
THIS TEST IS SIMPLY A SCREEN. IT CANNOT TELL YOU WHETHER OR NOT YOUR BABY HAS DOWN SYNDROME. IF YOUR SCREEN IS 'POSITIVE', IT SIMPLY MEANS YOU ARE AT INCREASED RISK FOR A CHROMOSOMAL ISSUE SUCH AS DOWN SYNDROME. IN ORDER TO FIND OUT WITH CERTAINTY IF YOUR BABY HAS DOWN SYNDROME (OR OTHER CHROMOSOMAL ABNORMALITY) YOU MUST HAVE A DIAGNOSTIC TEST (SUCH AS AN AMNIOCENTESIS OR CHORIONIC VILLUS SAMPLING).
Okay, off my soapbox on that one. There is a ton of confusion surrounding that. No one should ever think that their child without a doubt has Down syndrome based on this screening.
Back to the story-- all I heard out of that recommendation was another chance to see baby on ultrasound! I didn't even hesitate. My best friend went with me and I was super excited for her to see the baby. When we got to the exam room the doctor's tone (a specialist from Lexington) was very ominous. She kept asking me if I understood what this meant and even went so far to say that if things came back not so good that I'd have some decisions to make. I was shaken to say the least but still somewhat naively excited about seeing the baby. It turns out, the nuchal fold was increased. The average is around 1.7mm and my baby's was 2.5mm. I was still not overly concerned as I had read that 3mm or more is what is considered 'worrisome.' I next had the bloodwork.
Fastforward one week and I had still not received the results of my screening. I called the doctor's office expecting reassurance that everything was fine. The OB coordinator at the office still didn't have my results but promised to contact the lab and call me right back.
I'll never forget that day and that feeling. It was June and gorgeous outside. We had decided to build on to our tiny starter house to make room for baby, and construction was in full swing with workers hammering away outside. B had went out to speak with the workers and I was in the living room. My phone rang and it was the doctor's office.
OB coordinator: Tara, I have your results. The screening came back positive.
Me: What does that mean?
OB coordinator: Well, it means you are at increased risk for a chromosomal disorder. The actual breakdown was a 1 in 8 chance for Down syndrome and 1 in 29 for Trisomy 18. Please don't freak out though. I know one mom who has had a positive screening with all 3 of her children and they are all fine! Dr. Frank wants you to come in this afternoon if possible to talk about all of this.
Me: Okay...we will be there.
I hung up the phone and felt as though the room was spinning around me. I looked helplessly out the window at the streaming sunshine and vivid green of the trees in our yard. I willed B to come back in the house. I felt like my heart was in my throat. After what seemed like an eternity he came through the front door. The minute he saw my face he stopped. I tried to get the words out but was having difficulty. I finally told him what the doctor's office had said between sobs. We both cried...stood there in our living room and held each other and just cried. There might be something wrong with this baby that we had waited so long for...it was almost more than either of us could bear. When standing outside of a situation, it is easy to say what you'd do, how you'd feel...but when faced with it, it is suddenly much harder. We met with my doctor that afternoon and decided that we had to know for sure. Not because we were going to take any particular action...just so that we would be prepared for whatever we were facing. One choice was a Chorionic Villus Sampling which is where they go in guided by ultrasound either through the belly with a needle or vaginally and take a sample of the placenta. They then look at the DNA makeup of the cells to see if there are any abnormalities. The other option was to wait until I was further along and have an amniocentesis where they stick a needle through the belly and get a sample of the fluid around the baby and look at the DNA that way. We wanted to find out sooner rather than later (we were so scared) and chose a CVS. The procedure was uncomfortable...a little worse than a PAP smear and then we waited for our results.
Another disclaimer please: the choice the undergo diagnostic testing is a very personal one. There is a small chance of miscarriage (generally 1 in 200 or so). Many people with a positive screening feel like this is too much of a risk and choose to wait it out and just find out at birth. It was our choice to go ahead with the testing and I will talk more later about why this was the correct choice for us but everyone has to come to this decision on their own.
Okay, baby is awake so I must go for now. The next post will detail our actual diagnosis and the period of time immediately after. Bear with me, please. It is a long story but I feel it is worth telling.
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