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.

Summer Progress

Splashing in the pool, playing in the grass, blowing bubbles in the warm sun, and flying through the air in her swing – these are a few of Emelyn’s very favorite things. If she could speak, I’m confident Emelyn would tell you her season of choice is summer. As summer 2015 wraps, I can’t help but be grateful for the progress Emelyn has made over the past several months.

In June, Emelyn started pulling herself from her belly to a sitting position. This comes after more than a year of working on hands-and-knees in physical therapy. By the time mid-July came around, Emelyn was army crawling several feet, then popping up with ease into a sitting position. Of course this put her in the dreaded W-sit position. However, the W-sit brought another development, this time on the cognitive front. When we asked Emelyn to, “fix your legs,” she would swing her legs around in front of her. Shortly after that, we started noticing her following other verbal instructions, such as, “stand up” and “give me a hug.” This was adding to her growing vocabulary of receptive language. 

In early August Emelyn began pulling herself straight up onto her knees. Within just a few weeks we heard a crash one night. Emelyn had pulled herself from her knees to her feet and knocked over her quilt rack in her room. We were ecstatic, and of course, promptly lowered her crib down to the lowest setting. We didn’t want the next crash to be her! 

Emelyn pulling herself to her knees.

Emelyn pulling herself to her feet. You
can see the quilt rack she knocked over.

While we’re making progress in the receptive language category, expressive language is still fairly limited. We’ve worked over the summer to give Emelyn a voice. In July we introduced the Speak for Yourself app. However, we’re still struggling to get Emelyn to use the app consistently. The verdict is still out on whether Emelyn’s cognitive skills are the challenge, or whether her motor skills are the challenge. Overall though, we’ve been thrilled with Emelyn’s progress this summer. We look forward to an equally productive fall.