Confirmation

Tuesday, February 19th, was an uplifting day. It started late morning with a phone call from staff at Mount Carmel's MFM department - the results of the amniotic tests were back. The lab confirmed that Caroline's genes had two genetic markers for Meckel-Gruber, and thus confirmed the diagnosis. Although a fatal diagnosis, it is one that we have now been expecting. In an odd way, it was somewhat of a blessing, because we have what modern medicine calls an answer. As Jessica mentioned to the person making the call, this wasn't the worse answer she could have heard - if the test had been inconclusive, or they couldn't find anything, that would have been heartbreaking.

In the early afternoon, the mail brought a card and a gift that moved both of us to tears. Tom's cousin had made a rosary using a crucifix and central medal that had belonged to his deceased Aunt Carolyn. "Auntie Karen," as the family calls her, died when Tom was young, but he has distinct memories of visiting her when she was hospitalized. Just a year or two ago, Tom's Grandmother shared a binder of memories, including some of her artwork and notes. But what struck Tom most from that binder were the notes from the staff that cared for her - cared for someone who couldn't thank them. Regardless, the rosary has already taken a special place in our family's life.


Later in the afternoon, Jessica actually visited Mount Carmel's MFM for a regular visit and ultrasound. While the fluid levels seemed the same, and the kidneys had not enlarged much, we had a small victory - Caroline's bladder was visible! It meant that her kidneys had produced some fluid that would soon be added tot he amniotic sack. Despite the best efforts over all the other ultrasounds and the MRI, this was the first time anyone had ever seen it, nevertheless seen fluid in it.

Thursday morning, both of us returned to MFM for a meeting with Katie the genetic counselor. She had been on vacation (and thus wasn't the one to call Jessica on Tuesday), but this was our chance to ask questions and take the next step of having ourselves tested to confirm if one or both of us are recessive carriers. We should have the results in the next few weeks.