4/27/11: worst day of my life (part 1)

I debated whether I should write about this. I opted to for one reason. When Alex and I were dealing with this, all we wanted was hope, another person's story, to know that we were not alone. I spent many hours searching online and the few articles and blogposts I found made the future a very bleak thing.

Alex and I had gone to Charleston, SC for a week and got back on Sunday, 4/24/11. The next day was our scheduled Anatomy Scan. This is an ultrasound that is done around 20 weeks gestation to make sure the baby is measuring properly.

After a completely uneventful 20 weeks of pregnancy, we fully expected an uneventful Anatomy Scan. We were led into the ultrasound room and the tech got to work. We were so excited because we had not seen the baby since I was 8 weeks pregnant. At 8 weeks, the baby looked like a gummy bear. But at 20 weeks, the baby looked like a baby. It was awesome.

After the ultrasound, the doctor came into the room and immediately said that there were some things that the tech saw that concerned her and that we needed to go to a high-risk doctor. I asked what it was the tech saw and my ob replied that there were 'markers'.

Now, I had done my research on Anatomy Scans prior to ours and  knew that sometimes things called 'markers' are found on these scans. They are indicators that there may be a problem with the baby.

I asked which markers the tech saw and my ob said that it would be best if I waited to talk to the high-risk doctor. He said that he would arrange an appointment for us and left the room. As soon as he left, the floodgates opened. My husband, my big and strong husband lost it. I told him to go wait in the car and I would make the arrangements with the high-risk doc.

After securing an appointment for 4/27, we went to my parents armed with ultrasound pictures of our baby. We took no joy in these pictures. But we looked at them and studied them and tried to see what the tech saw. Our baby looked perfect to us, but there was obviously something that we were missing, something important. The rest of that day was spent at my parents's house and my in-law's house, telling them that there might be something very wrong with the baby.

The wait until the appointment with the high-risk doctor was awful. I spent hours looking up information online. Every new article and blog that I read made the prognosis seem worse. I did learn some info that was useful. I learned that the most common conditions that are associated with 'markers' are the Trisomys. The most common Trisomys are 13, 18, and 21. They are Down Syndrome, Edwards Sydrome, and Patau Syndrome. I was very familiar with Down Syndrome, but had never heard of the other two. What I learned about them terrified me.

In addition to the Trisomys, there are a slew of rarer conditions that these 'markers' are indicators for. It also seemed that it is quite common to find one 'marker' on Anatomy Scans. The concern comes in when there is two 'markers'. Finding more than 3 'markers' seemed quite rare. My ob did not tell us how many 'markers' our baby had, so I could not do more specific research.

Our appointment was late morning on 4/27. The high-risk doctor was a very nice man and he gave it to us straight. Our baby had 5 'markers'. The news was a slap in the face. I expected to hear 2 'markers', not 5. I had not come across a single article about a baby having 5 'markers'. He said that the 'markers' were:
-a heart without 4 defined chambers
-eyes that were too wide set
-shriveled kidneys
-short femur bones
-fat nuchal fold

He let us absorb what he was saying for a few moments before advising us that there were options. He said that an amnio could test for 98% of known genetic issues. He also advised us that the limit for abortions in New York state was 24 weeks. I remember that as he was telling us about the 24 week limitation, the baby was kicking furiously. It was surreal.

My head was spinning and I had two things to say to the doctor. I first told him that we needed time to consider the amnio, as it has a risk of miscarriage. Secondly, I asked him a question and I told him that I wanted a straight answer. I asked him if he had ever heard of 5 soft markers ever turning out okay. He replied that he was sure that it had happened. I asked if he was assuming or had known it to happen. he said that he had never personally known 5 markers turning out okay.

With very little hope, we walked out into the parking lot to discuss our options.