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
2 comments:
Wow! Angela really knows how to test the medical profession. Can see the tracking of her symptoms over the years. All those things that never really added up make much more sense now. Praying that you can find the right balance of nutrition and meditation for her that doesn't trigger this and that she recovers from these reactions without ongoing consequences. Xxxxx
Wow! Angela really knows how to test the medical profession. Can see the tracking of her symptoms over the years. All those things that never really added up make much more sense now. Praying that you can find the right balance of nutrition and meditation for her that doesn't trigger this and that she recovers from these reactions without ongoing consequences. Xxxxx
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