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.