So we opted to do the first trimester screening simply because we wanted an early picture of our growing little one. And frankly we loved having the reassurance that all was still well on the screen. We happily go in, have our screening, complete the bloodwork, and happily go home! So far....all seems well!!! While at work, I got a phone call from the genetic counselor...."Can you talk?"
OK....what I didn't share is that the night before the screening I spent the entire night....and I mean the ENTIRE NIGHT....surfing the web about Trisomy 13 and 18....I was TERRIFIED of 13 and 18 because you may make it to term, only to have your baby die in a month or a year. I watched a beautiful YouTube video titled "99 Balloons" because he lived for 99 Days and his Father documented every one of them. It was truly the most beautiful video I think I have seen to date....but I was also sobbing on the couch while watching it. After the amount of loss we had gone through....the thought of being SO close to getting to keep your baby, only for them to be taken away again caused a MASSIVE panic attack that night. I could barely breathe. If you care to watch it, here is the link: http://www.youtube.com/watch?v=th6Njr-qkq0 (make sure you have tissues near by).
I take a deep breath and close my office door to hear what she has to say. She calmly tells me that the ultrasound showed our babies nuchal fold to be "normal" but at the "upper extreme". I am not sure why you have an "average range"....if you aren't going to call it "normal". Anyways....she then goes on to explain that my blood tests show that we have a 1:53 risk of the baby having Trisomy 21 otherwise known as Down Syndrome. Now....this news doesn't panic me. I have been working in Special education for over 10 years. Down Syndrome we agreed a long time ago....we were fine with. I quickly ask about Trisomy 13 and 18. She tells me my risk is fine for those two. PHEW! Please don't misinterpret what I am relieved about. I know that I would never EVER be able to terminate my baby....EVER. I was SO relieved that I would not have to go through another death....hopefully. My baby still only had a 40% survival rate based on my past. Now with the possible complications of potential Down Syndrome....it might be more complicated. I calculate out the actual risk....2%....that gives us a 98% chance that the baby is chromosomally OK. But I had a weird Spidey Sense tingling again. Based on our past losses and two confirmed trisomies....the likelihood that the baby has Trisomy 21 is most likely higher than 2%. The genetic counselor suggests and amnio which I politely turn down. No thank you. I know two people who have lost their babies or had their amniotic sacs ruptured resulting in a premature birth at 24 weeks (she made it against the Dr's suggestion to abort). She seems stunned that I refuse the amnio and am RELIEVED.
My MFM is monitoring me every 6 weeks with Level 2 ultrasounds. I have now again started surfing the web and have joined multiple forums including one called "Down Syndrome Pregnancy" on babycenter.com. It was one of the best forums EVER. Some had a diagnosis and others were waiting it out. I learned SO much from these other parents. I also had a new lens to look through when heading into ultrasound appointments. At our 16 week appt., we found that our baby had a "Echogenic Focus" on her heart....fancy word for "Calcium Deposit" within the wall of her heart. This use to be a marker for Down Syndrome but is also found in the general population. Another OB tried to convince me to do the amnio. I again explained that it only put my baby at risk, and I didn't need to know. The baby looked great on the ultrasound so far....let her BE. All the while....every time I threw up....Kevin and I would CHEER....we knew it was a great sign.
We took the ultrasound picture and had it put on a shirt with the words "Guess What?" surrounding it. On the back, in large pink letters it said, "I'm A GIRL!" We again drove to NY and shared with our families.
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