Our journey with Raylee began when she was just 19 gestational weeks old. We went in to our first level ll ultrasound to learn about our baby and hoping to find out the gender. After three long hours of measuring every tiny body part of our baby, the sonographer told us we were having a girl and the doctor was going to be in shortly to talk to us about the ultrasound. For those short few moments, nothing else in our lives mattered. We were having a baby girl! Our doctor came in and said congratulations then his tone changed, and he wanted to talk about three issues he found during the ultrasound.
First, they noticed that she has a small omphalocele (a rare abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall). It was so small they considered it more of a bellybutton hernia.
Second, the ultrasound had shown that her left foot was a true clubbed foot (a birth defect in which the foot is twisted out of shape or position), and the right was showing signs of being a rocker bottom foot (a congenital anomaly of the foot, characterized by a prominent heel and a convex rounded sole).
Lastly, and the most significant of the three they noticed that our baby girl had Caudal Regession Syndrome/ Sacral Agenesis (a congenital disorder in which there is abnormal fetal development of the lower spine - the caudal partition of the spine) Basically, Raylee is missing everything below the L5 of her spine, containing the entire sacrum and tailbone, this means that her spine ends abruptly and is not fused to her hips....she has a "floating spine". This affects the nerve development in her lower extremities, as well as potential bowel issues.
The most exciting news of the day now was in the back of our minds, and worry set in. What does all of this mean?
Four weeks later we had a follow up ultrasound to watch her growth and development, along with an echocardiogram to make sure her heart and organs were fine. To our surprise, we learned that her cerebellum was developing much slower than it should be, meaning she may have problems with her motor skills as she develops and grows. We also learned that she was missing her right kidney, which wouldn't pose as an issue as long as the left one was fully functioning. Lastly, the echocardiogram showed that she had a VSD (Ventricular Septal Defect), meaning she has a hole in her heart, and she has a bicuspid aortic valve, which means the aortic valve has two leaflets rather than three.
Children's Hospital of Minnesota reached out to us and told us she needs to see a team of five specialists to watch over Raylee for the duration of the pregnancy and her life. Aside from connecting us with each specialist, our assigned Care Coordinator set up all of our appointments, walked us through the process of having her at the Mother Baby Center, and how she will be handled at Children's immediately after delivery.
As we got further and further along in the pregnancy, the appointments became more and more frequent. We were able to become familiar with her team of specialist, and we started to understand what sort of potential issues we might be facing with each of these abnormalities. However, an ultrasound can only tell you so much.
February 6, 2017 we were scheduled to finally meet our baby girl!!! This is where her journey really begins...