CDKL5 Deficiency Disorder
“When my daughter, Karly, started seizing at two weeks old, I grabbed a camera, recorded it, and brought it to our general practitioner. That started a 14-year journey toward her CDKL5 diagnosis where we met with pediatric neurologists at Hershey Medical Center, Johns Hopkins, Detroit Children’s Hospital, and more. We began an endless loop of MRIs, bloodwork, spinal taps, CAT scans, and PET scans, all of which came back normal, and made me hate that word – “normal.” Because I knew she wasn’t normal.
We couldn’t determine the cause of the seizures, so we focused on fighting their severity. As a nursing baby, Karly became the youngest child ever to start the ketogenic diet. For over a decade, we worked to control her seizures while I stayed up researching until 3:00 a.m. I found Rhett’s Syndrome and Angelman’s Syndrome – her doctor graciously tested her for both; she had neither.
At the time, we had a five-year-old and a three-year-old along with Karly, and while adjusting to my new circumstances, I fell into a very, very dark place. Before Karly’s seizures started, I was so happy. We had three beautiful babies and a new house. But then, her life became nothing but seizing, suffering, doctor’s visits, and horrible tests. I didn’t want to see anyone, I didn’t want to leave the house. Then, one night our young son saw me crying, and asked, “What’s wrong Mommy?” I told him, “It’s just Karly. I wish she was normal like you and Katie.” And he said, without a blink, “She is normal, Mommy. She just does things differently than other kids.” Those words from my little boy’s mouth immediately changed my life and started my healing process. Who was I to decide what was normal? It was my job to love her and do the very best I could. And so I did – we went to Disneyworld, multiple times. She’s been on a train, plane, and a cruise ship. I stopped thinking about myself and how this was affecting me, and realized it was time to make our family whole.
Still, I never gave up on finding a diagnosis. When Karly was 14, I wanted to have her eyes checked again, so we went to a new eye doctor who worked with rare diseases. She referred us to a colleague at the Harvey Institute of Human Genetics who recommended we have one more blood test. I said yes, though I expected this one to come back normal, like the rest. After all, Karly saw her neurologist twice a year and at each appointment I asked what else we can be testing for, and nothing new ever came up.
Two weeks later, the doctor called me back and said, “Karen, I know exactly what Karly has. She is missing the CDKL5 gene.” I thought – Hallelujah! Even if there is no cure, it was a wonderful feeling to know what I was fighting.
The diagnosis immensely improved our support system. We now had a support system of other parents whose children were suffering through the same things we were. I had somebody to talk to who knows my feelings, knows that level of desperation, somebody who really understands. They know I don’t want sympathy, just understanding. The diagnosis also affected the rest of my family. My son decided he wanted to be a doctor to help kids like Karly, and today, he’s on his second year of residency. Karly’s aunt and sister understand the severity of the diagnosis and love to spend time with her, offering my husband and I some much-needed respite time.
Last year, Karly graduated from high school, and as her seizures reduce with treatment, she’s easier to communicate with. I tell people that I have two languages fluently: Karly and English. Karly is not a shell of a person who is just here for no reason. She has things she likes to do, and she shows it. She adores having “girl time” with her sister, who loves taking Karly on special outings shopping or to the movies.
What I want other people to understand is: Don’t ignore her because she’s in a wheelchair and she’s acting differently than your children. If I’m in line at a store and there’s a child staring, I’ll get down beside Karly and say, “Hi, this is Karly. She doesn’t walk or talk because she has a rare disorder called CDKL5, but she likes a lot of things, just like you. She’s normal, just like you.” And that’s what I do. I take every opportunity I can.”