Friday's News

We arrived in Syracuse at 8:30AM on Friday morning. After the paperwork was completed, we settled in to our chairs in the waiting room. We waited until about 9:25 before being beckoned into the ultrasound room.

The technician performing the ultrasound let us know right up front that all she would tell us was what she was looking at, unlike our sonologist in Binghamton, who let us know at every opportunity that things looked good. So right from the start I knew I wouldn't get any information until we met with the doctor.

The ultrasound proceeded rather normally. It took a long time. The sonologist (Katie) took a very involved look at every single part of our baby. Many, many times she applied color in order to see blood flow. She told us what we were seeing on the screen for the majority of the ultrasound. However, she stopped talking halfway through, and that's how I knew she was looking at the "O". After measuring the omphalocele from various angles and applying the color, she "switched cameras" and soon we were looking at 3D pictures of our baby boy! Some of them were really cool - we could see his facial features, his arms, belly. But there were parts that were scary, like the omphalocele itself.

After about an hour of laying on my back, turning onto my right side, my left side, and the table tilting so that my feet were above my head, we were sent back to the waiting room. We spent only about ten or fifteen minutes out there, and then we were called back to a tiny consultation room where we would spend the next two hours.

A nurse came in to take a medical history. Then we waited for the doctor. We spent 45 minutes waiting in this room. I went through periods of high anxiety during this time. The room was about 10' X 12' and painted in beige with white and light blue stripes. There were three magazines to look at and several pamphlets and brochures. I went through all of the reading material in the first 20 minutes, then sat there in agony for the rest of the time. I couldn't think straight enough to care about anything else.

The doctor finally came in. His name is Dr. Nosovitch. He introduced himself and then began a 45 minute lecture on everything he could possibly think of related to our situation. He was very knowledgable and very kind, but at the same time, very direct and straightforward. Every time a question formed in my mind, Dr. Nosovitch answered it before I even had a chance to form words. It was like he was reading my mind.

So here's the long and short of it:

The good news is that the baby is essentially healthy. There are no detectable defects in brain, spine, heart, face, arms, legs, other organs, etc. The only problem is the omphalocele itself, according to the ultrasound. The bad news is that only bowel (intestines) was detected in the omphalocele. I originally thought this was a good thing. Then the doctor said that omphaloceles that do not contain any part of the liver have a higher correlation with chromosomal abnormalities. In fact, the chances are 50/50. I processed this news like this: one out of every two babies with an omphalocele containing only intestines will have either Trisomy 13, 18, or 21. I don't like those odds.

Trisomy 21 is Down's Syndrome. Trisomy 18, also called Edward's Syndrome, has about a 95% mortality rate. Most die in the uterus, but those who are born live usually die within the first three days. Of the very small minority who survive the first three days, most die within the first year of life. Trisomy 13 has a slightly lower mortality rate, but the life expectancy of a Trisomy 13 baby (also called Patau Syndrome) is only 10-15 years. All three of these chromosomal abnormalities carry with them definite, severe mental and physical disabilities.

Another possibility is Beckwith-Wiedemann Syndrome, which is characterized by oversized organs (mostly kidneys), oversized tongue, sometimes disproportionate sides of the body, and an increased risk for developing childhood cancer. This cannot be diagnosed prior to birth in most cases.

The best and most optimal outcome is just an isolated omphalocele. If that's the case, we are in good shape, because the omphalocele is small and only contains bowels, and the rest of the baby appears healthy at this point. We are hoping, obviously, that this is the case. This would mean an operation shortly after birth, a few days to a week in the hospital, and most likely a full recovery.

Dr. Nosovitch offered us amniocentesis, which we decided to go ahead with. We would like to know what we are dealing with. The amnio itself was not painful. They cleaned by belly, swabbed it with iodine, used the ultrasound to find a pocket of fluid, inserted a very small needle, withdrew two tablespoons of fluid, removed the needle, cleaned my belly again, and we were on our way. The whole process took less than ten minutes. Then I got a shot of Rhogam in my ass. That hurt.

We left the doctor's feeling resolved. We treated ourselves to Dinosaur Barbeque, and then went home. We are proceeding with life as normal.

We will receive notification of the amniocentesis results in 7-14 days. I want to know as much as a I don't want to know. I am taking refuge in these next couple days, knowing that the news we receive will be dramatic either way. I am trying to stay busy and not think about it. Everytime I start to feel scared or sad, I think about my beautiful baby girl and how very lucky we are to have the life and family we have. We will be okay regardless.

If there is one lesson I have learned already from this experience it is that we are all vulnerable. Tragedy can happen to anyone at any time without any notice, and I have always taken my good luck for granted. Not so anymore.