Chris and I have an 18 month old daughter named Lorelai. She is a vibrant, strong-willed, enchanting baby girl who has brought an indescrible love and joy into our lives. We are expecting our second child, Gavin in early November of this year, which will give us two babies in two calendar years!
At around sixteen weeks pregnant with Gavin, my quad screen came back positive for down syndrome. Based on my results, I was given a 1 in 54 chance that our baby would be affected by the disorder. We followed up (at 20 weeks) with an ultrasound at Maternal Fetal Medicine in Virginia Beach, only to discover more markers indicative of down syndrome. That same day, I took a blood test, called MaterniT21, which looks at the baby's DNA in my blood stream to determine if there are any additional chromosomes. That test came back positive and has a 99.4% accuracy rate in determining Trisomy 21, which is the most common form of Down Syndrome.
Our ultrasound at Maternal Fetal Medicine also indicated a congenital heart defect. At 22 weeks pregnant, we met with a fetal echocardiologist. At this appointment, Gavin was diagnosed with Tetralogy of Fallot (TOF) which is a heart disease affecting four segments of his heart. TOF is treated with open heart surgery, and often can wait several months, sometimes years, before operating. However, Gavin's particular echocardiogram determined that open heart surgery is going to have to occur immediately after birth. There is a critical concern with his heart's ability to pump any oxygen rich blood to his lungs. His particular defect in this area of TOF is severe enough to require immediate open heart surgery.
During this same echocardiogram, we were told that Gavin has a narrowing in his intestines that will prevent any food/milk from leaving his body. This will also require fairly immediate surgery, but the gastrointestinal surgery will have to wait until his heart surgery is completed and he is stable. Until this second surgery is complete, he can only receive nutrition through an IV. Our more immediate concern is that this condition may cause fluid to build up in the uterus and force us into labor prematurely. Complications from a premature delivery will only make all of these obstacles more formidable for our little guy.
All of these factors together make us a high risk pregnancy. We will be delivering at Sentara Norfolk so that the pediatric surgeons at CHKD can take Gavin immediately and work their miracles on saving his life. This has been a terrifying, emotional and overwhelming time for our family. Down Syndrome alone is a medical justification for termination of pregnancy. The heart and intestinal conditions are each justifications for termination in their own right. The combination of all three means that we are constantly met with phrases like, "If you choose to proceed with this pregnancy", "If you choose to have the baby", or "You will need to determine whether or not this is something you would like to continue with." I strongly feel that this decision is any woman's, or couple's, right based on their own experience and beliefs. But for us, we have seen Gavin all over the ultrasound. And I can feel him kick and move all the time. Chris and I have to fight for our son and ensure that we do everything in our power to give him the best life possible. No matter what challenges he may be born with or encounter, we will not give up on him. We will be there every step of the way and do everything we can to surround our son with unconditional love and support. He may not be a "perfectly" healthy baby, but he is ours and he will be perfect in his imperfections. I can't wait to meet him and hold him, no matter how long that takes.