My pregnancy was completely normal up until my 20 week ultrasound. I went to my usual doctor and had my ultrasound done. We found out we were having a boy and we were so excited. Nothing was mentioned to us about any abnormalities. We thought that Owen was healthy and everything was normal, until the doctor called us. She said that she needed some more pictures of Owen's heart. I automatically thought the worst, I had no idea was was going on. She reassured me that everything looked fine, but she needed some more detailed pictures and she wanted me to go see a high-risks OB/GYN in another town.
Were we ever in for a surprise? We went in thinking that everything was OK; nothing to worry about, but we came out devastated. The doctor started asking questions like if I had had any prenatal screening done or if my regular doctor had talked to me about anything of these concerns. My answers were all no, I didn't think I was at a high risk for any genetic problems, considering my age. As the doc continued through the ultrasound my stomach turned. We couldn't believe this was happening to us. He started to proceed through all of the abnormalities he was seeing. He said it appeared that Owen has some sort of heart defect, a thicken nuchal fold, an increased amount of amniotic fluid, one clubbed foot; possibly two, and something abnormal about his hand. As he threw around words like soft markers and genetic problems, my world turned upside down. He gave us two options, wait until Owen was born for a diagnosis or have an amniocentesis done. When the doctor left the room both my husband and I broke down. It was so overwhelming and we couldn't imagine wondering and waiting for 20 more weeks so opted for the amnio.
After having the amnio done, my husband and I went and talked with a genetic counselor. He informed us that we were probably dealing with one of two syndromes; either trisomy 18 or 21. I didn't know very much about either syndrome although i was somewhat familiar with Down Syndrome. Well it turned out that T18 is a more severe syndrome that is fatal. At this point we were hoping that it was T21. The genetic counselor gave us some information and we went home to wait for the results, which would be back in a few days. We got the call the following Monday that Owen did in deed have Down Syndrome. At that point we were relieved. We had come to accept that our son had some sort of genetic problem and we were going to love him no matter what.
We did our research and learned as much as we could about DS. We set up an appointment with a pediatric cardiologist for a fetal echocardiagram. We learned that Owen had an atrial ventricular septal defect, which meant that he had two holes in his heart. One between the upper two chamber, known as the atriums, and one between the lower chambers, known as the ventricals. The cardiologist informed us that this type of defect would require surgery around the age of 6 months. She reassured us that although the surgery is somewhat complex, it is considered to be a easy problem to fix.
We followed up with the cardiologist two more times before Owen was born to track any changes in his heart condition. Although we had come to terms with everything, we still wondered "why us?", "why couldn't we just have a healthy baby?" Sometime I would see other mothers with their young babies and just admire them. Admire the fact that they didn't have to deal with the challenges or worries of having a baby with special needs. As time went on the hurt and the resentment, for lack of a better word, went away and we awaited the arrival of our precious baby boy.