Echocardiogram Results (7/16/14)

  This morning we were scheduled to have another appointment with the genetic counselor before we had our Echo performed to check on baby (Rochelle)! (Yes we picked her name!!! It’s my middle name and her middle name will be Elaine after Shane’s Grandma).

  The Genetic counselor started out by asking if we had any questions.  We really didn’t have any, we were just waiting for all of our testing that we did a couple of weeks before to come back.  She stated that Rochelle does have Full Trisomy 13 at this point (but she also stated that since they only tested 15 cells that mosaic can’t be ruled out).  The results were negative for spina bifida, confirmed that there is no translocation, my entire chromosome testing came back and it showed that I am not a carrier for an extra chromosome.  We are planning on getting Shane tested as well.  The cystic fibrosis came back negative as well.  So that was the positive news but also stated that there really wasn’t anything new learned at that point.  
  Then it came to the sonogram of the her heart and the Doctor’s main focus was on the heart of course, but she also measured the baby’s head which measured right on time (22 weeks) and same with her arms, legs, and stomach.  She is measured 1 pound 1 oz. at this time! 🙂 yay!!  Her heartbeat was 148bpm. The fluid around the baby was fine as well.  Then she started to focus on the heart and she does have 4 chambers that look appropriate but she has ASD(Atrial septal defect) and VSD(Ventricular septal defect) which means that she has 2 holes in her heart.  She stated that the ASD has a bigger hole and says that some of the wall is missing.  I then started asking her to questions about possible surgery needed after birth and if she had heard of many pre-term births with mother’s carrying Trisomy 13 babies.  She stated that most women can carry to full term and that she said it’s completely up to Shane and myself to decide on the birth plan and that she said it’s up to us to decide on what measures to take during delivery and after. The last little bit of information she gave us stated that she said if Rochelle didn’t have Trisomy 13 she would be having surgery eventually after her birth, that did not seem fair at all for Shane, my mom (who I LOVED that she went with us) and myself.  We are going to get referred to a Pediatric Cardiologist in Austin hopefully soon so we can get a second opinion to see if there is a possibility that Rochelle would need heart surgery immediately after birth or if she can wait 2-3 months to get stronger before undergoing such an immense surgery.  We just want the best outcome for our baby girl (Even though the doctor did tell us again today that she would most likely not have a good outcome regardless of what we try to do to help her).
So many people have asked us, “how did this happen to y’all twice when all the genetic testing from both you and Shane have came back normal?”  Joel Osteen posted the perfect scripture in Proverbs 3:5 “Lean not to your own understanding.”  There may not be a reason medically why we were chosen to be the parents to not only one, but two children with genetic abnormalities.  God chose us to be their parents, and we love them unconditionally regardless of what anyone says to us. 

2 thoughts on “Echocardiogram Results (7/16/14)

  1. Do what Rochelle and your heart tell to you…no matter what Doctors say.

    These babies are a blessing, a miracleof love….and we have to love them and give them the best of us!

    The best whishes and lot of love for you Rochelle and your parents from Chile!!…

    Johanna & Agatha (my little angel)


  2. Thank you Johanna and Agatha! 🙂 I truly do appreciate all of your kind wishes! I love that you say to follow your heart, because that's exactly what we have done.
    I love your story as well and will pray for your family! 🙂


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