Monday, July 15, 2013

17 Weeks- Bad News


This is actually 16 weeks, 6 days at Portage Glacier

  Last Friday I got a call from my OB back home. (When the doctor calls you, you know something is bad.) And I knew what it was. My quad screen came back positive for Spina Bifida (1 out of 11 chances) and Trisomy 18 aka Edward's Syndrome (1 out of 60 chances). I immediately burst into tears. John walked in from work right then and Mom was there, so that was a comfort. The OB suggested that I call my AK OB right away, which I did. They were wonderful and got me an appointment with Maternal-Fetal Medicine tomorrow morning. I'm going to have a Level II ultrasound, amniocentesis and a meeting with a genetic counselor. Quite frankly, I'm terrified. When I had the quad screen drawn, I had a gut feeling that it was going to be positive. And now I have a gut feeling that something is definitely wrong.
  I was actually expecting this baby to have Down Syndrome since I have a strong family history and because of my advanced age. So, I was quite shocked to find out that I was at risk for Trisomy 18 and Spina bifida. I thought that I did everything right to prevent Spina bifida- I almost OD'ed on Folic Acid when I first found out I was pregnant, and I have been taking a multivitamin with Folate for years. I felt like I was safe. My brother has a very mild form of Spina bifida called Occulta, so perhaps family history is a factor there? I don't really know enough about it to know for sure. What I keep thinking about is seeing the baby kick and cross and uncross its legs last week on the ultrasound. If he or she has Spina Bifida, wouldn't it be paralyzed? Again, I have no idea.
  Trisomy 18 is a chromosomal abnormality and it's my understanding that it's just sorta random. At any rate, some babies are stillborn, some die a few days after birth and very few live to their first birthday. They are severely retarded and often require interventions like feeding tubes and heart surgery. I've been thinking about that a lot and, right now, I would want my baby to have as few interventions as possible. I would want to prevent as much pain as I could and let it die naturally.
   Have you ever seen the YouTube video called 99 Balloons about a baby with Trisomy 18? I've been thinking about it pretty much non-stop as well: *Warning: If you don't cry while watching this video, you are probably dead. Very, very sad.*



  I actually have been trying to stay busy this weekend to take my mind off things, and I've been doing pretty good. I had a breakdown this morning, but it was fairly short and contained. I'm not really worrying so much as thinking about all conceivable possibilities and options (I am going to be an internist, after all). A lot of people keep telling me that it's going to be okay. I really don't know what that means. It may be okay, but having a baby with lots of physical and mental disabilities is definitely not okay! Actually, this whole situation has been quite stressful and that's not okay, either. It sucks. And I'm scared! 
  At any rate, I hope we will get some answers tomorrow. We would definitely appreciate all of the thoughts and prayers that we can get!

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