Medium-Term Goals

on Jun 6, 2018

I met with a very cool speech therapist today who (among many other things, and in between me vomiting information at her as I am prone to do) asked me what our long-term goals are for Rory.  It kind of took me aback, because of course our long-term aspirational goals for Rory are for her to catch up to her peers with speech, mainstream in school and go on to live a perfectly normal life.  As I’ve been thinking about it though, I’ve come up with some more medium-term goals that I think are more attainable and I wanted to share them here: 1. I want Rory to become more of a “complete” person.  Right now she is very centered on what she wants or doesn’t want, and being happy or mad because she has or doesn’t have whatever the current desire is.  She doesn’t really care about anyone else but herself, which in some ways is typical for a young child,...

Microduplication 15q:11.2 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? ...