Meet Ellie J
Written by her mother, Kay:
When Ellie-J (EJ) was born, we had no idea of the journey ahead. However, by 3 months we noticed that she wasn’t hitting her gross motor milestones like she should. We were told to give her a little time, but by 6 months we were referred to Occupational Therapy (OT) who then referred us to Physical Therapy (PT).
After EJ started PT, things really got to rolling (literally)! By 10 months she was rolling over and she started army crawling at 13 months. Our pediatrician referred us to Orthopedics, who x-rayed her hips, knees, and ankles at 14 months and found that everything looked as it should. Per our PT, we requested SMOs and our request was granted. Ortho told us to come back when she turned 18 months if she still wasn’t walking. Soon after she started crawling on her hands and knees. During this time we were still going to PT once a week and had added OT back into the mix to work on some sensory issues.
At 18 months we went back to Ortho. EJ had made progress. She could stand with support and had started crawling, so Ortho wanted to wait 6 months before they referred to us to Neurology. This didn’t sit well with us. I have worked with Early Intervention for years and felt like there was some kind of “reason” behind EJ’s delays. We spoke with our pediatrician and were referred to neurology.
From the moment we met our neurologist, we knew that if anyone could help us figure out what was going on with our girl, it was her. She immediately set to work having us complete genetic testing as a family. She order Whole Exome Sequencing for Mom, Dad, and EJ. She also referred us for a gait trainer and new SMOs.
By this time, we had just celebrated EJ’s second birthday. Over the next few months we were released from ortho, graduated from OT and received our gait trainer (who we lovingly refer to as Scooter). Once EJ’s diagnosis came back of a de novo variant of Uncertain Significance, c.2275 C>A (p.Arg759Ser), of the DYNC1H1 gene, our neurologist and genetic counselor scheduled an EMG (electromyography) and brain MRI. From her MRI we were able to see some abnormalities that would explain her motor delay. All parts of her EMG came back normal. After talking with our neurologist and genetic counselor about the test results, we started working on a game plan. We were sent to get fitted for AFOs to see if the extra support would stabilize EJ more. We also learned that because of the DYNC1H1 variation, EJ is at risk of seizures. Although we have not seen any seizure activity, our medical team wants to make sure that there isn’t any absent seizure activity and scheduled us for an EEG (electroencephalogram) before the end of 2025. All of these doctor visits haven’t been the easiest for EJ, especially when blood samples are needed. This has led to quite the fear of doctor’s offices, but it’s something we are working through!
While EJ still struggles with her balance and walking unassisted, she has figured out lots of ways to keep us on our toes. She is constantly impressing us with her problem solving skills and independence. We jokingly call her “speed racer” because when she needs to get somewhere, but Scooter doesn’t quite fit, she can crawl faster than you would believe. She has also figured out how to walk while just holding one hand and sometimes prefers it.
EJ is also exceedingly funny. She loves to put on a show and keep us laughing. She attends the same daycare that she has since she was 2 months old. Her daycare has been amazing throughout this entire journey. From giving Scooter its designated parking spot in the classroom, to finding ways that promote accessibility awareness in a daycare that’s learning along with us, they have gone the extra mile. EJ still goes to PT once a week and has made amazing strides because of it. She has even let go of her beloved Scooter a few times to take a couple steps. We are looking forward to see what sort of progress can be made with the help of the AFOs.