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Emelyn loves to swing. This picture was taken
in early September at Green Hill Park.

On September 16, 2015 we received a call from our genetic counselor at UVa. After several inconclusive tests, I had started telling people we probably wouldn’t learn anything from this latest round of testing. While the whole exome sequencing was the Cadillac of genetic testing, I was convinced we’d once again receive a report filled with gibberish and the words, ‘variant of unknown significance.” But not this time, instead we heard, “We’ve found your daughter’s diagnosis.” This is when the moment of panic set in, what is he about to say, will this be a good diagnosis day or a bad diagnosis day?

After nearly three years of uncertainty filled with the ups and downs of scary news followed by positive progress followed by more unknown, we finally had a tangible diagnosis. Emelyn has a DDX3X mutation on her X chromosome. It’s a condition that only effects females – talk about a girls only club. As I write this post, approximately three days after the call, I can say this diagnosis day was one of the better ones. We’ve developed quite an optimism about Emelyn and no matter what the coming months and years reveal, I can’t help but think our faith in God and Emelyn’s larger than life giggle won’t change that. Click here to learn more about Emelyn's diagnosis.