Research

On our road to finding Emelyn’s diagnosis I was often asked what we hoped to learn from finding a diagnosis. I even had medical professionals question the need for a diagnosis with statements like, “A diagnosis isn’t likely going to change the course of treatment.” While Emelyn’s diagnosis isn’t dramatically changing our current treatment, which mostly consists of a variety of therapies, we are learning very valuable information about Emelyn’s new diagnosis that will influence the focus of those therapy sessions. For example, not all, but many of the DDX3X affected girls are non-verbal. While I will never give up hope that Emelyn will someday use spoken language to communicate, I’m now even more determined to find an alternative means to help her communicate with us, such as through an app or communication device.

Emelyn using her Speak for Yourself app to
tell us she's, "All done."

Finding a diagnosis also means connecting with other families. Last week we began the process of enrolling Emelyn in a genetic research study at University of California, San Francisco. We didn’t learn about the research study from our genetics counselor or doctor, but from the parents in the DDX3X group. In fact, when we met with the genetic counselor at UVa, he told us we’d likely hear about research studies before he did. And he was absolutely correct.

I’ve been warned that research is a slow process. Good thing one of the lessons Emelyn has taught all of us is patience. While it’s likely to be some time before the research yields answers, I’m encouraged to see the research will focus on understanding the issues people with brain malformation face. Since no one has been able to tell us what “underdeveloped hippocampus” actually translates to in reality, I’m hopeful to one day have some insights from this research. The research will also focus on potential therapies that could help people like Emelyn.

I’m excited about the future for our little Emelyn. She’s has an amazing team of therapist and doctors vested in her development and now she’s going to have researchers too.

Answers

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.