So, here we go...
After having Justin in September 2012, we were not trying to get pregnant. When I found out I was pregnant, I was in complete shock. Probably even a bit of denial (yes, I am aware where babies come from). Once those temporary feelings wore off, I couldn't have been any more excited for this pregnancy and this baby. We only planned to have two children, so I started to embrace every bit of this pregnancy down to the horrendous all day sickness and complete lack of energy. Definitely much worse than it was with Justin, but I just assumed it was a good thing and meant a healthy pregnancy. I later found out it was due to very high levels of HCG (the pregnancy hormone) common with chromosomal abnormalities and that my body was working harder than normal to keep this pregnancy.
Early doctor appointments came and went with beautiful ultrasounds of what appeared to be our healthy little baby (who looked more like a gummy bear at that time) wiggling around like crazy with a healthy heartbeat. I always had an off-feeling. I actually cried when we heard the heartbeat the first time, for some reason I didn't think we would.
I continued my days as normal, trying to wrangle an active, adorable toddler; filling my days with play dates and activities; and spending time with my part-time job as a Wine Consultant. In my typical paranoia of breaking the rules, I avoided caffeine, alcohol, lunch meat, sushi, fun, and anything else viewed to be risky during pregnancy while of course taking my prenatal vitamins. I'm usually pretty laid-back about most things pregnancy and child-raising related, but always told myself I would end up blaming myself if I broke the "pregnancy rules" and my baby wasn't healthy. I won't be able to blame myself for anything so I'm glad I was so careful.
Our Routine 1st Trimester Screening:
Matt left work to meet Justin and me at the appointment. I came very well prepared with lots of snacks and the stroller to keep our kid strapped down and happily distracted. The wait wasn't very long, and the nurse led us into the room. At this appointment they do many measurements of the baby and measure the amount of fluid in the back of the baby's neck- also known as the nuchal translucency. They typically also take your blood to be screened for the possibility of any chromosomal abnormalities. Generally speaking, a nuchal translucency above 3.5mm is viewed to be abnormal- our measurement was 9.1mm. There are MANY cases where the baby has an abnormal measurement but is completely healthy.
The next step was going to be additional testing. The specialist did not feel there was much reason to send to send my blood to the lab. The thing with screening tests is that they are not diagnoses. They only supply you with a ratio. The highest possibility it can give you is a 1:2 chance for a baby with a certain chromosomal abnormality. From the ultrasound alone, the doctor was able to tell me there was at least a 50/50 chance. I am glad he didn't send my blood work to be analyzed as it would have only caused me unnecessary worry.
When the doctor came in after the ultrasound tech, after some small talk (probably initiated by me), he told us, "there is a serious problem with your baby". I honestly thought he was joking. We just saw our perfect little baby wiggling his arms and legs and doing somersaults with his heart beating away for 20 minutes. What did he mean there was something wrong? He explained how high the nuchal translucency was and how the fluid ran from the top of his head, down his neck, back, and to his bottom. He said there was a chance the baby wouldn't make it to the next appointment, but wanted to see us in a week to do a Level II ultrasound and see if anything changed with the fluid level. Matt looked like he was hit by a truck. I broke down into the ugly tears. Justin laughed at me. Fair enough- I'm sure I looked funny to a toddler.
We got in the car and started making some phone calls, we were devastated. Absolutely devastated.
The next week went by slower than ever, but with the support of great friends and family, we got through it. I wouldn't say that we spent that week without hope. We knew that we would always be in a position to accept good news. Good news is always easy to hear. It's the bad news that no matter how hard you try to prepare yourself for, you will never be ready to accept. We chose to continue the next week with a very realistic attitude with trust in God and our doctor. We realized that the statistics were not in our favor. There are a lot of hope stories out there where the baby turned out completely healthy and there was no diagnosis of any chromosomal abnormality. We felt in our hearts wouldn't be one of them. We are his parents, so no matter what we feel to be true- we will never give up all hope.
Our Follow Up Appointment a Week Later:
Going to this appointment was much different than the one a week prior. At our first appointment at the specialist, we were excited to see what we believed to be our healthy baby. This appointment was much different. While we were tired of waiting, we also didn't want to get more bad news that would further eliminate the probability of a healthy baby. We entered full of anxiety, Each moment in the waiting room felt like an eternity. We were finally called back to the room and we got ourselves situated.
The job of the Sonographer is to take images for the doctor to view. She cannot give her thoughts, only point out what we're looking at.
"There is your baby's heartbeat. ("Thank you, God. Our baby is still alive."). "Can you see his foot? Look at its little nose."
The one thing my untrained eye noticed immediately is that the amount of nuchal fluid looked so much less than the week prior. As soon as the Sonographer left the room while we waiting for the doctor, I even mentioned it out loud. For as realistic as we had been the week before, it all went out the window for a few minutes. Each minute that went by, my hope grew more and more. A smile returned to my face and we were joking around for the first time all day.
After the longest wait ever, the doctor came back in. Our hope was taken from us. The doctor noted a few key things with our baby. First, the reason the nuchal fluid seemed so much less is because the baby had grown so much in a week- as they tend to do in the beginning. The fluid had not dissipated, it had only stabilized. It was bad news in that our baby's fluid level was still abnormal, but because it had stabilized and not worsened, the baby was not in immediate danger of passing away.
The doctor also noted abnormalities in the baby's heart, as well as arms that were forming inward. Both markers for a chromosomal abnormality. He did not believe the baby would have Trisomy 21 (Down's Syndrome) but thought it had Trisomy 18 (Edward's Syndrome) or Trisomy 13 (Patau Syndrome). Amniocentesis was offered to us at that point. It is an invasive procedure where a needle is inserted through the mom's abdomen, and amniotic fluid is taken from the womb. I wanted to avoid any invasive procedures for as long as I could.
The doctor gave another option of a prenatal DNA test. This is a non-invasive blood test that can diagnose for chromosomal abnormalities. During pregnancy, some of the DNA from the baby crosses into the mother's bloodstream. The blood can then be analyzed to see if there are any extra chromosomes. I left the room the get my blood drawn, and was told that we'd find out the results as early as the following Wednesday, but definitely by the end of the following week. The next waiting game begins.
The weekend was the easiest. We were able to keep ourselves busy, do a lot of research, and digest the information we just received. Matt of course went to work on Monday and that's when things were difficult for me. It was much harder to be alone with Justin during the day, so my amazing mom's group rallied and kept me super busy. Each passing day gave me more anxiety. Every time my phone rang, my stomach dropped thinking it might be the results to my test. Finally, by Friday afternoon with no call, I couldn't take it anymore. I assumed the results were in but they hadn't had an opportunity to call us yet. I knew I couldn't wait another weekend to get results. I asked Matt if he could call the office before they closed for the weekend.
Seeing Matt's name come across the caller id returned the same anxiety I had been fighting all week. I could tell in his voice immediately. Any doubt was gone- our beautiful baby has Trisomy 18. The blood test also looked for the sex chromosome and we found out Justin was having a little brother! We shared tears. Tears of grieving the life we initially envisioned for this baby, tears of relief that the waiting is over and we know exactly what we're looking at, tears of fear of things out of our control, tears for not knowing what to expect.
I have posted a link in the "About Me" section, but if you would like to familiarize yourself further with Trisomy 18, please visit this link.
As for today? I am still pregnant and I love our perfect baby boy.