Stories  >    lily | CDKL5 Deficiency Disorder

"Her sample was re-tested years later. Thanks to advances in genetic testing capabilities, we confirmed a diagnosis we couldn’t have found previously. "

As told by Kim, mother to Lily, who was eventually diagnosed with CDKL5 Deficiency Disorder. As genetic testing became more advanced, a university was able to re-run her genetic sample and correctly identified the gene deletion causing the disease. Getting the diagnosis gave Lily’s family purpose and comfort while navigating a scary disease.

My daughter Lily was born in August 2002. Everything seemed “normal-ish” at first. She was our beautiful firstborn baby girl.  Her birth was challenging. She suffered a lot of facial bruising and a broken collar bone. However, when we brought her home from the hospital, we had no worries about her health. All we worried about was how to care for her. Lily’s first few weeks were hard. She had trouble nursing, cried a lot, and made some strange movements.  

When she was three weeks old, I found her in her bassinet convulsing. That image is still set in my brain – eyes blinking, arms and legs moving erratically. I quickly picked her up, held her tight, and it stopped. I was scared and thought maybe it was a fluke, yet she did it repeatedly. When we went to her pediatrician, the doctor didn’t think Lily was having seizures. Why would a perfectly healthy baby born to perfectly healthy parents be having seizures at 3 weeks old? He did warn us that if it happened over the weekend, we should go straight to the ER.  

As you can imagine that weekend we ended up in the ER, and Lily was admitted to the hospital. The doctors performed a CT scan, spinal tap, MRI, EEG. All the test results indicated that Lily was okay. The doctors sent us home with a prescription for seizure-preventing medications and promised that she would grow out of this.  

That hospital trip, however, was just the first of lifelong hospital admissions.

By 8 weeks, Lily was at the children’s hospital under video EEG monitoring. We knew she was having seizures, but we didn’t know why.  We were on a hunt for an answer. We sought out specialists across the country. She went through multiple tests, muscle and skin biopsies, and the only genetic testing available at the time came back negative.  

Nothing gave us answers. It was her world we were living in and finding her help.

We were sure if we could stop the seizures, she would start to develop, but nothing would stop them. When she was 18 months old, she was the youngest patient in Arizona to try vagus nerve stimulation (VNS). It was unsuccessful. By age 2.5, she had corpus callosotomy. While the surgery didn’t stop her seizures, it did help the duration and intensity. We did it all – therapists, specialists, early interventionists, special pre-school – but her development never caught up.  

We became involved in the Rett Syndrome world (Lily tested negative for Rett Syndrome, but it was the disorder most like her symptoms). When the mother of a child with Rett Syndrome suggested that Lily get a genetic test for STK9 (which was the prior name for CDKL5), I asked our pediatrician to run it. He knew nothing about genetics, but he knew how badly I wanted the test run and agreed to it.  

It came back negative, and I was so disappointed. I was sure that was it.  

Two years went by with the same routine: therapists, school, specialists. At one point, we did take a break from the testing and searching. We were tired of testing our sweet girl and wanted to accept the situation as it was.  

Then, when Lily was 6 years old, the phone rang. A university-run hospital had re-tested samples that matched for CDKL5 (previously STK9), and Lily did have CDKL5 disorder. It was missed because she had a deletion, not a mutation, and the earlier testing could not detect the deletion.

What a difference having a definitive diagnosis made! While her treatment plan didn’t change, I was able to seek out other families who had children with the same disorder. I joined the board of a CDKL5 research organization. I was able to fundraise and promote awareness! It was work with a sense of purpose, and it helped us find comfort and safety in a scary world.  

Lily is now 18 and still struggles. She goes to high school, has siblings, loves sweets, outdoor walks, and the beach. She is our incredible girl who has had a rough road. Despite going through hard surgeries and scary infections, she still fights every day to enjoy her life. We will continue to seek the best treatment for her and do all we can to give her the best quality of life.

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