Sunday, September 27, 2015

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.

Saturday, September 19, 2015


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.