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Thursday, July 23, 2015

Bad News

So, I last left off with Greg and I finding out that we were both carriers of SMA. That meant that every pregnancy we have has a 25% change of having a baby affected with SMA.  In that same note, 50% of the pregnacies would result in a baby that was a carrier of SMA (like Greg and myself) but would not have the disease, and 25% would not even be a carrier at all.  That same week, I was rushed in to get an amniocentesis.

In this procedure, a long, very skinny needle was put through my abdomen and into the uterus to obtain amniotic fluid. It was not very painful at all and they did this while watching via ultrasound to make sure the baby or the placenta was not pierced by the needle. We met with a genetic counselor before the procedure to go over genetic diseases and options. We decided the counselor would e-mail me when the results were in so that Greg and I could conference call her if we were both working and get the results together.

                                              16 weeks....just before our world started falling apart!!

At this point, I was 17 weeks. I had an anterior placenta on the right side of my uterus and was just barely starting to feel the little guy move. The following week at work, I was desperate for some coffee and mixed some regular into my typical decaf coffee. The extra caffeine must have really made him move! I was sitting with my 2 managers at work interviewing a potential new nurse. I must have looked like a crazy person because Little Man kept kicking low and left and it kept making me jump!! That was the first time I realllly felt him moving! Such an amazing feeling!!!

We were told the results from the amniocentesis would take 4 weeks!! The wait was excruciating!! At 19 weeks, a nurse from my regular's OB office called to tell me they had results (my amniocentesis had to be done with high risk OBs with Maternal-Fetal Medicine at a different office). They had amnio results!!! They told me he was a boy (I already knew that) and that results read that chromosome testing was normal and he was only a carrier of SMA and would not be affected!! OMG! I broke out in tears immediately!! Relief and absolute GLEE washed over me! I couldn't believe it! I quickly called Greg to tell him the news! I then immediately called my mom to tell her!!

About an hour later, I had come down from the high of the news when I realized.....there is no way those could have been the amnio results....it was too soon! I work at the same hospital where I had the test done so I looked in my chart  in the computer (it is legal to do!). There were recent testing results sent via fax to my OB's office. I took a close look and saw that my OB's office was in fact wrong. There were results back from the amniocentesis regarding chromosomal testing.  Everything from that was negative for any type of chromosomal anomaly like Down's Syndrome or any other trisomy disorders. The SMA carrier results were actually my own results. When I had the amniocentesis performed, they also took my blood so that they could make sure the cells from the amniotic fluid were from the baby and not my own cells. The SMA results were MY blood results showing again that I was a carrier of SMA. I quickly called back the OB's office and left a message as well as leaving a message with the genetic counselor telling her what I was told and what I found in my chart. I was 99% sure at this point that I was correct and the OB's office was mistaken. I was absolutely devastated.

The next morning the genetic counselor called me to confirm that the only amnio results were in fact the chromosomal tests and NOT the genetic tests. The nurse from my OB's office then called to apologize for reading the information correctly and giving me the wrong results. UGH! Back to waiting....

At this point, all we could do was keep busy. I dove into work and school. Greg and I were tentative about talking about any future plans that would involve a baby. As the weeks went on, we started to put our guard down. There was a 75% chance the baby would be okay. I mean, the odds were in our favor. We again started making plans and imagining the holidays with our November baby. I started looking at baby shower themes. I have always loved the story of Le Petit Prince (The Little Prince). There were so many cute party ideas on Pinterest! :)

In the mean time, the bump started growing. I hit 20 weeks on June 26th! That day I went to a nursing leadership retreat. Most of the people there were middle-aged women. My table was full of them! I was fully showing at this point and they loved the fact that I was pregnant! Each of them had lots of advice and were so kind to me! They told me I would love motherhood as it was such a special experience.




20 weeks is where life falls apart. I will stop here and get to the darkness next time.

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