I looked at the baby, at her flat face and slanted eyes, and noted the protruding tongue, the Simian crease. Most of all, I remembered the chromosome report: Trisomy 21.
I looked the grandmother in the eye. "That is correct," I said.
Telling a family their child has Down syndrome is never fun, and this session wasn't one of my best. Mother was taking the news extremely well, but she had been prepared by her pediatrician and another neonatologist, who had told her that on a clinical basis her baby most likely had Down syndrome. Grandmother, though, looked a little ticked off, and father was just very quiet. I don't think they had heard the previous talks that mom had.
I wish I knew what families in this situation want to hear, because whatever I say seems so inadequate. I know they want the truth, which we give them, but unless they know someone with Down syndrome it seems a little hard to explain it to them. Also, of course, there is the normal variation in severity that we cannot predict. Often the family wants some hope, some chance that the baby will turn out normal after all. Although I usually don't like to take all hope away from a family, in this situation we simply cannot tell them there's any chance their baby will be normal. Then there's the whole chromosome thing, and trying to explain to the parents how this happened. The conversation can easily swirl down into one confusing mass, or at least it seems that way to me.
So I told them one bit of truth, something I hoped would cheer them up a bit. I told them about a patient I had back when I was a general pediatrician, a six year old with Down sydrome who was my favorite patient. She had frequent ear infections, and would always come to see me very excited, bouncing around pointing at her ears and telling me to look in them. She was absolutely delightful; I couldn't help but laugh every time I saw her.
But what is cute at age 6 is less so at 16, and even less at 26.