Violet's Story: The Amnio and Diagnosis

After our anatomy scan, we did our research and knew that we were most likely dealing with a trisomy diagnosis or possibly DiGeorge Syndrome caused by a chromosome deletion.  Best case scenario we were dealing with our daughter being handicapped for her life and worst case she would die before she was born.  It was a lot to process in a few days.

Four days after that ultrasound and a long worrisome weekend, we reported to Maternal Fetal Medicine for a more thorough scan of our sweet girl.  The first thing I remember is laying on the table and watching my information pop up on the screen in front of us.  It had all the vital stats identifying us, but it also listed what the previous ultrasound had found, so right away I saw that there were even more markers that we hadn't discussed with our midwife.  The ultrasound technician took measurements and pictures for the doctor to review and we waited.

We were relieved to have the same doctor that had done E's follow up ultrasounds because familiar is comforting.  He explained in detail all of the physical abnormalities he was seeing, but after a several descriptions, something happened.  I'm not sure if I went into shock or if I just couldn't absorb any more of what he was saying, but I found myself later asking Mr. SPS for clarification on many things that were discussed.

The doctor suggested that we do the amnio immediately and we agreed.  He made it clear that based on her markers, he thought for sure that we were dealing with a condition more severe than Down Syndrome (which is Trisomy 21).  Since there is a chance of miscarriage with amnios, I had read not to be persuaded if you weren't sure, but there was no question in our case.  There was no denying that something was very wrong with our baby.  We needed to find out exactly what to have all the information we could.

The doctor told us that we would have the option to terminate but that most families choose not to do so. I'm not sure if he based his statistics on his practice alone, but I feel that this is important to mention.  In future discussions with many parents in our shoes, I have learned that many felt persuaded one way or another on the decision of termination by the medical team when they were given a diagnosis.  I think the doctor was trying to show us all options, but even in saying that "most" choose one thing, he was influencing us when we weren't (yet) asking for statistics.

I cried a lot in that room that day, but I held still as they inserted the needle into my uterus through my belly. It was surreal to watch it on the ultrasound.  I felt the cramping they had warned us about, but it was done quickly and again, now all we could do was wait.

I turned to the doctor before he left and said, "I don't think I can do this."  I wasn't referring to our impending decision about termination or carrying to term.  I was just marveling how I would simply survive the next 48 hours until we got her diagnosis, then the next few days or weeks or months until she arrived, then after.  The rest of my life.  How?

"You'll find the strength," he said.  I thought he was utterly wrong.  It was the first bit of advice I received regarding Violet's journey that I simply didn't believe could be true until it happened.

My husband worked from home two days later so we would be together when we got the phone call.  It ended up taking an excruciating extra day, but the phone finally rang giving us an answer.

Trisomy 13.

I held up my fingers to my husband, one then three.  A week ago we didn't know that Trisomy 13 existed but that afternoon we both knew exactly the weight that those two numbers carried.