The 18-week Ultrasound

January 7, 2019. In the afternoon, Jessica checked into St. Ann's Maternal Fetal Medicine for her 18 week ultrasound, where they check the key parts of the baby's anatomy. After much looking and scanning, and a long wait for the doctor, it was all a blur.

What the doctors saw: the back of Caroline's skull had not closed and a portion of the brain was outside - near the neck. They also saw that her kidneys were enlarged and had multiple cysts, and there was some fluid around the heart.

In a conference room, the MFM doctor answered some of our initial questions. The issues with the brain and kidneys are strong indicators of a rare genetic disorder known as Meckel-Gruber Syndrome.

That's where we heard the worst. Compared to a normal pregnancy, babies with Meckel-Gruber have an increased chance of stillbirth and those that are carried to term do not live long - might be minutes, maybe an hour or a day. It is always fatal. Unfortunately, there is not much information, in part because the condition is so rare, but also because many of the parents who hear this possible diagnosis do not choose to carry their baby until their natural time - a fact that is truly heartbreaking to us.

Combined with some conversations with Katie, the genetic counselor, we learned that Meckel-Gruber is genetic. Although the condition has been observed for over a century, it was only about 5-10 years ago that it was discovered as genetic, and therefore capable of being tested. It is a complicated test, and is not on the common panels of blood work.

The doctors at MFM told us that an amniocentesis can confirm Caroline has MG, and we were able to try that afternoon/evening. While it should have only taken a few moments, after 45 minutes, both doctors were unable to get the needle to pierce the amniotic sack - it would "tent" and push in like pushing your finger into a balloon.

Physically, Jessica felt pain as they tried so many times but were unable to succeed. Emotionally, we had a level of sadness neither of us have ever experienced before, as we started to comprehend the life our daughter would never have. However, Jessica experienced the presence of our Blessed Mother, and the peace that the Lord can bring when He's with people. In that moment, she didn't feel abandoned, which is a grace she doesn't fully understand. She was also thankful that Tom was able to be there to hold her hand.

We rescheduled to try another amniocentesis again the following week. At home that evening, that's when we started to share the news with some friends and family, and started a week very different than we had expected.