Some of you have known Angela for years in the DS community. Others are more recent additions to our circle, either via the adoption community or connections through friends. For you lad timers, you remember the days when Angela kept everyone guessing, either due to erratic behavior or unusual medical symptoms. Yesterday we received a diagnosis that now makes sense of all the oddities of previous years.
Partial Ornithine transcarbamylase deficiency
I'm going to post a link to information for you to read at your leisure. Wrap your brain around it a bit. Pick your jaw up off the floor, then come pack and I'll explain how this all came about. I'm sure you'll notice as you read that many features associated with Down syndrome masked the symptoms of POTCD.
http://path.upmc.edu/cases/case335/dx.html
