Emelyn's Journey

Emelyn joined our family on March 20, 2013, four days past her due date. For so many reasons, we were grateful to be able to hold her in our arms. At 24 weeks of pregnancy, we were referred to maternal-fetal medicine for suspected clubfeet. That was our first experience with a “diagnosis day” and it was terrifying. No matter what, being told there is something "wrong" with your child is gut-wrenching. After far too many scary ultrasounds and possible issues, we entered the delivery room on March 20 with our faith and a great deal of uncertainty. In the hectic minutes after Emelyn’s birth, we learned she didn’t have clubfeet or arthrogryposis (another potential diagnosis tossed around by specialist). We counted our blessings and took our precious bundle of joy home.

Big sister, Aubrey, holding Emelyn just a few
hours after arriving home from the hospital.

It was about three months later when the red flags appeared for us. Since Emelyn was our second child, we couldn’t help but compare milestones and realize Emelyn wasn’t where she should be at three months old. She wasn’t holding her head up, she wasn’t reaching and grabbing for objects, and she still struggled to focus her eyes on faces and objects. Emelyn’s pediatrician promptly referred us to early intervention due to her low muscle tone, also known as hypotonia. This was our second experience with a diagnosis day. Looking back, this was likely one of the scariest days. And the weeks that followed were equally as scary as we learned low muscle tone is typically a symptom of a more serious condition.

Our third diagnosis day came when Emelyn was about ten months old. In an appointment with a pediatric neurologist and genetics doctor, we were told Emelyn had choreoathetoid cerebral palsy. I have to tell you, this was one of the easier diagnosis days. Cerebral palsy is a big bucket and the broad range of those affected gave us hope for Emelyn. For the next year and a half, we operated under the assumption Emelyn had choreoathetiod cerebral palsy. At the recommendation of Emelyn’s therapists and doctors, we embarked on several rounds of very sophisticated testing.

Emelyn (11 months old) after her first MRI. 

Emelyn’s first test was a brain MRI, which revealed an underdeveloped hippocampus, the clinical significance of which is unknown (I hate this statement by the way!). Through a blood test at about 18 months old, Emelyn had a chromosome microarray, which revealed no duplicated or deleted chromosomal segments. The next recommended testing, a combined mito genome plus mito nuclear gene panel, revealed some potential gene mutations or involvement, but nothing of any clinical significance (errr!). That’s when the Cadillac of genetic testing was called in—whole exome sequencing. This required a blood sample from both Patrick and I. And with a small bribe (Sweet Frog), Aubrey volunteered to be stuck with a needle for her sister as well. And then we waited—for five months we waited.

Our first trip to UVa in January 2015 (almost 2 years old) to see the genetics doctor.
She thought she was big stuff in her giant chair. 

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 greatest opportunity for us to uncover a genetic condition, 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 mutation on her DDX3X gene on her X chromosome. It’s a condition that almost exclusively affects 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. To learn more about DDX3X syndrome, visit ddx3x.org.

Emelyn in the fall of 2020—7.5 years old.