Finding Our Way

This is what I have been up to recently along with beginning the process of closing my business.

Drop of Sunshine

Three years ago we were new parents to a sweet, but feeble and frail 2 year old girl we had newly adopted from China.  In our attempt to determine the source of her weakness, slow development, and very low weight we underwent genetic testing to make sure we covered all of our bases.  The answer came back that our daughter had a microduplication on her second chromosome.  2q23.1 to be exact.  The only problem was that this duplication had never been seen before.  Ever, anywhere.  Meaning that the geneticists had no idea what the duplication might mean.  Now there were recorded cases of children with deletions at 2q23.1 but duplications were entirely uncharted territory.  So even though we gained information from the genetic testing, we had not really gained any useful information.

A year later at our genetic follow up they had discovered 3 more children with a 2q23.1 microduplication…

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