The Hard News

I know our posts have been slowing down a bit lately. My words have dried up. When my writing focused on all the amazing things that happened leading up to Leah’s birth the words poured from out of my heart. They flowed as freely as my tears did as I sat at the computer and wrote and cried and remembered. Thinking about my pregnancy and Leah’s birth and the miracles God worked during that time is easy. The joy those memories bring dulls the pain of loss.

When it comes to writing about anything from June 25^th on, it gets much harder. The only good things that have happened since then have been the amazing support and care we have received from our friends and family.

I have been struggling to write this post for weeks. I have tried recounting the events of June 25^th, to paint a picture of the grief, shock, and devastation of that day, but it is entirely too painful.

That day, the day after Leah was born, our genetic counselor came to meet with us before we checked out of the hospital. I hoped it was just routine, but seeing her at the door made me apprehensive. She had told us at our last meeting that there was no reason, based on the ultrasound, to suspect a genetic cause. The majority of cases of lethal skeletal dysplasia result from dominant mutations that randomly occur at conception, and Leah’s ultrasounds didn’t display any of the characteristics common to recessive (i.e., inherited) genetic dysplasias.

However, the examination Leah received post-mortem indicated that she probably did have an inherited disorder, called short-rib polydactyly. The gene for this dysplasia has not been located, so there is therefore no test to verify the diagnosis. However, families that experience this with one child who chose to have more children frequently deal with it again. It also occurs mostly in marriages where the spouses have a relative in common. Thus they have determined there is a genetic link.

This condition is so rare, that the hospital did not feel comfortable giving us a final diagnosis even after completion of the full autopsy. Instead they have sent everything to the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center in Los Angeles for expert confirmation. They did this because they feel uncomfortable giving us such a serious diagnosis when they have so little experience with it, not because they believe the diagnosis will change.