The diagnosis: Transposition of the Great Arteries (TGA)

Wednesday July 6th, 2011...what a rough day. I was 19 weeks along and we had a 1:30pm appointment for the second trimester screening which is routinely performed during pregnancy. We were basically going to find out the sex of the baby, because the thought that our child could have a defect had never really entered our minds. We were excited and of course all of our family members were waiting to hear the big news...which ended up being much bigger than we imagined.

We brought our daughter with us to the appointment thinking that it would be a fun family memory having her there to share in the day. We waited for about 15 min in the lobby and that was long enough for our daughter, Brinley, who was already getting antsy (to be expected for a 15 month old.) They finally called us back and the tech got started with the ultrasound. Due to positioning, we found out almost immediately that we were having another little girl, Brinley would have a little sister. I was surprised...I was sure this was a boy. My heart sank a little for my husband who I knew wanted a son. In my mind, we were done...we got the news we came for and I was ready to go home and see how my hubby was coping with the idea of a house full of girls, but the ultrasound went on, and on, and on...for almost 2 hrs.

At about an hour and a half into it, my husband Bryan, had to take our daughter out of the room because she just couldn't sit there any longer. The tech was obviously having trouble seeing something, she had me roll from side to side and repositioned me several times. Shortly after my husband left, the tech said that she had to step out for a second and she would be back. I knew when she shut the door that something was wrong. My husband saw her leave and came back in with our daughter. A perinatologist and the tech followed him in. It wasn't going to be good news.

The doctor proceeded to tell us that they were having a difficult time visualizing the baby's heart, but they suspected that there was a defect, either transposition of the great arteries or double outlet of the right ventricle. He followed by saying that either way it would be an "easy fix" and that we shouldn't worry. Having been a pediatric nurse for 8 years, I knew that either diagnosis would require open heart surgery, and to me that was far from an "easy fix." I could feel tears welling up, but I held it together until we walked out of the office door, then I immediately burst into tears. This just couldn't be happening to us, this was something you hear about and sympathize when other people go through, but it couldn't be happening to OUR family...not OUR baby. On the way home, my husband and I called our parents and broke the news to them. I could hear the pain in their voices and knew that their hearts were breaking for us.

We would have to see a cardiologist as soon as possible for a fetal echo cardiogram to determine exactly what was wrong. I spent about 6 hours of the following day on the phone with various cardiology, neonatology, perinatology, and high risk OB offices until I found an amazing cardiac nurse practitioner who understood my sense of urgency and scheduled a fetal echo cardiogram for the following day. That evening, I scoured the internet, researching the two diagnoses and reading blogs of mother's who had children with these defects...it was horrible, but I decided that if she had to have one of these defects, TGA would be my choice (as if I had any choices here!) I cried most of the night and slept very little...I was devastated.

The next day, we went to our cardiology appointment. The office was wonderful- the staff was so supportive and knowledgeable. The echo cardiogram was performed and the diagnosis of TGA was confirmed. On the spectrum of heart defects, this was the most favorable of the severe, if that makes sense. Our cardiologist, Dr Puntel, sat down with us and explained exactly what the diagnosis meant, how it would be treated, and what to expect through the pregnancy and into her childhood. I walked into that appointment with an entire notebook paper full of questions, and Dr Puntel answered all of them before I asked a single one! The news was bitter sweet...TGA is not compatible with life, so our baby girl would have to undergo surgery shortly after birth, but afterward would be expected to have a full life with little to no restrictions. I was still devastated, but I felt blessed that she had something that could be treated with great success. I was impressed with the office and felt confident that she would be well cared for, and I couldn't ask for anything more.