dup15q: The Road Not Taken

on Mar 10, 2018

Collin and I were cutting vegetables for a salad on Wednesday evening, making a quick dinner before yet another baseball game in the sea of baseball games that have become our life lately. I was chopping the tomatoes into little pieces when the phone rang and I answered with my clean hand and heard Dr. Sankey’s diminutive voice on the other end. “We got results from Rory’s blood work including the chromosomal microarray analysis and she has a duplication of her 15th chromosome.” It was one of those dividing moments in time when your world gets split into before and after.  One minute you’re doing something so normal and banal and the next your ears are ringing and you are trying to process something so monumental you feel yourself unraveling around the edges. Our 3-year-old daughter has what we now know is an interstitial microduplication of chromosome 15q11.2. Quite a mouthful, huh? ...