26 Week ultrasound and more genetic results

On Monday, March 4th, we met again with our counselor, to continue discussions on telling our kids. It's hard to see the kids grow to learn about realities of life, but we are lucky to have the opportunity to do so at their pace. She also reminded us that although each of us is processing this differently, we each have unique contributions that help our family accomplish this journey.

Tuesday the 5th we again returned to St. Ann's MFM department for another ultrasound.  We consider these as our special times with our daughter, because we can see and hear her in real time. We can see Caroline move on the ultrasound at the same time Jessica feels her move, and we can hear the rhythm of her heartbeat. We even got a picture of Caroline imitating her mommy -resting her open hand on her belly!

We had a few moments to talk with  Katie the Genetic Counselor. She already had our own test results back, and confirmed that both of us are carriers for the recessive Meckel Gruber gene.  She answered a few more questions, telling us that the MG gene is not on an X or Y chromosome or age related, and that the labs confirmed two separate markers in Caroline's sample, they can identify which one came from Jessica and which one one came from Tom.

Dr. O'Shaughnessey confirmed that there's virtually no amniotic fluid left, but he did see a small bladder that had a little fluid.  We had a chance to discuss some more practical issues, like what size to plan for Caroline's burial clothes. Dr. O'Shaughnessey also offered some important comments on an autopsy. Although we already know Caroline's diagnosis we are considering an autopsy because of the potential inconclusive nature of genetic testing for some families. Dr. O'Shaughnessey commented that some families only get that from the autopsy, and that the Doctor who performs ours and notes the records here in Columbus will now have those results to compare/share locally for others. Years later, that doctor can confirm someone else's diagnosis based on the experience and knowledge of seeing Caroline. And while it's always a devastating diagnosis, we can at least empathize with the comfort that comes from some additional knowledge and understanding.