Meet Skylar! Mom Lauren shares about her sweet daughter!

It has been almost a year since we walked into the hospital office to receive the devastating results of our daughter’s genetic testing, CDKL5 Deficiency Disorder. I remember the day vividly. After tons of labs, multiple spinal taps, a brain MRI, several EEG’s, failed meds, etc., our family was hopeful that the genetic results would give us an answer as to why our infant daughter, Skylar, was having hard to control seizures at such a young age. The result was not at all what we were hoping for, nor were we prepared for it.

At just 2 weeks old, Skylar seemed to have some subtle involuntary jerking movements in her feet. Things progressed quickly, and as soon as I began capturing video, we were immediately referred to our first neurologist. That word, neurologist, was frightening. We were seen by a pediatric neurologist and told that she was not concerned…it did not look like seizure activity to her. 2 days later, we were in the emergency room for what would be our first of many hospital stays and a lifelong journey that we did not see coming.

We started Skylar in Early Intervention at 5 months of age, shortly after receiving her diagnosis.

This was a difficult step. I worked as a special education teacher for many years before resigning to stay home full time with Skylar. I never thought it would be me needing these services for my own child. Skylar was on track developmentally until about 6 months of age. Things were going so well… she was getting her in-home physical therapy and occupational therapy, and even getting pool therapy once a week. When therapies went virtual due to the Covid-19 pandemic, that is when we coincidentally noticed that Skylar was showing some deficits. The older she gets, the more noticeable some of her deficits are, especially in terms of gross motor. However, we know that Skylar will master new skills at her own pace.

This has been the most challenging year of my life.

We are only 1 short year into our CDKL5 journey, but to those parents who are just receiving their diagnosis, I have just a few small pieces of advice. First, always trust your gut. I think back to that first neurologist that we saw who dismissed everything. As Skylar’s parents, my husband and I knew something was not right. (We now see all our specialists at Boston Children’s Hospital, which thankfully has a CDKL5 Center of Excellence.) There will be lots of decisions along the way… trust the one that you make at that time is the right one for your child. Our Skylar is now almost 15 months old. She just started to crawl this past week, and her smile lights up a room. She is doing things that we were told she might never accomplish, which brings me to my next point… do not focus on what doctors tell you your child might never accomplish, such as walking or talking.

Focus on what they can do! Can Skylar feed herself with a spoon currently? No. But she CAN hold her own bottle. Can she walk? Not yet, but she CAN sit independently and just began to crawl! Skylar brings out the absolute best in her big sister, Jordyn, and we know how lucky we are to have 2 beautiful daughters who truly are the best of friends. She defines the words strength and resiliency, and we are so grateful and proud that she is ours. CDKL5 does not define her, and we are hopeful she will continue to beat many of the odds against her.