The Perinatologist’s Office

Waiting for our appointment with the perinatologist was very difficult. It was hard to wait even another day, so we were very grateful when Wednesday arrived. We had a list of questions to ask the specialist after the ultrasound and were looking forward to getting some answers.

When we first got to the office, a technician took us back and performed the ultrasound. She spent about 45 minutes getting detailed images of everything she could. Then she left the room and the doctor reviewed the ultrasound in another room. After what seemed like forever, he came in and continued the ultrasound with us and described what he saw along the way and the multiple problems he saw.

First of all, he started with the skull: it was abnormally shaped, like a lemon, indicating some kind of neural tube defect or neurological disorder of some sort. Then, he noted something else in the brain that indicated it was possible the baby had spina bifida as well, but he couldn’t confirm that in the ultrasound. Then he pointed out a thickening of the skin at the back of the neck and fluid pockets there as well. He said this usually is indicative of some kind of chromosomal problem but he couldn’t be sure without an amnio. Then he moved onto the heart where he said the baby didn’t have all four chambers, the aortic valve had significant narrowing, and the septum between the two ventricles didn’t completely form, therefore leaving a hole in the heart. He also said the heart was tilted to the left. If none of this was enough, the baby’s diaphragm didn’t completely develop (diaphragmatic hernia) causing the liver to be shifted up into the chest cavity and pushing everything over to the left and probably preventing the right lung from growing and developing normally. Any one of these things by itself might not be insurmountable, but together, it makes for a very bleak situation.

When the perinatologist finished with his ultrasound, we wanted to ask him the questions we had prepared, but he practically ran out the door, passing us off to a genetic counselor. The feeling we got from him was that his assumption was we would get the amnio and choose to terminate the pregnancy so it wouldn’t be worth his time to actually answer our list of questions. It was very frustrating to say the least. And we felt the genetic counselor was really unable to answer any of our questions and was quite useless in general. All she wanted us to do was sign the agreement to do the amnio and showed us a couple pictures of various chromosomal problems which we might be facing. But we certainly didn’t feel like she had much knowledge about the situation.

Greg and I had originally chosen not to do any of the screening tests that are available to pregnant women because we felt that it didn’t matter what the results showed, it would not affect our decision to carry the baby to term. The genetic counselor was unable to give us any real reason why we should do the amnio because she told us we would be able to test the baby’s blood at birth and find out at that time what showed up. So that day at the specialist’s office, we opted not to do the amnio and solidified our decision to carry the baby to term. Once the baby was born, they could test his blood at that point and let us know what the results showed.

We left the doctor’s office feeling very frustrated and seeing no hope for our baby boy. We were given a much bleaker picture of what was wrong with our baby boy than originally thought. And, we weren’t able to get our questions answered. I felt really bad for Greg because he had to go back to work and somehow manage to be productive there. At least I could go home and have some time to absorb things.

Later that afternoon, I got a call from my OB, Dr. Sweeney. She had received the report from the perinatologist’s office and wanted to talk to me about it. I was so happy she called because it gave me the opportunity to express my frustration to her about the specialist. She was able to give me some answers and even suggested that Greg and I get our blood drawn for chromosome testing to see if we had something recessive we were passing on to the baby. She told us this was something we should do during pregnancy because that is the time that insurance covers it. We had specifically asked the genetic counselor about doing this and she kind of blew us off and said we could do it at some time. She didn’t bother mentioning the time to do it would be now. But, Dr. Sweeney wrote up the lab slips for both me and Greg so we could get that process started.

A few minutes after hanging up the phone with Dr. Sweeney, I got another phone call, this time from my nurse practitioner, Kelly. She is really great and I have gone to her for several years, but I don’t usually see her much more than once a year. She told me she had just talked to Dr. Sweeney and found out what was going on with me. She felt so bad for us and really wanted to reach out and see if there was anything she could do. We talked for awhile and she answered some questions for me. The she asked me about the fetal echo we had scheduled and wanted to make sure Greg was going with me. I told her Greg wasn’t planning on going because it would just be the technician and they wouldn’t be able to tell us anything anyway. But, Kelly said that since Greg wasn’t going, she was going to come with me. It was her day off and she would meet me at the cardiologist’s office for my appointment so I wouldn’t be alone. I was, and continue to be, completely blown away by her generosity and loving nature. She had a lot of patients and for her to take the time to do this for me was extremely thoughtful.

That night, Greg and I talked about how happy we were with Dr. Sweeney and the proactive role she was taking for us. And we were so impressed with Kelly and her willingness to help us out as well. These were more examples to us of how God was working in our lives and putting people in place to support us and lift us up. What an awesome God!