Avery was just 4 weeks old when she first began having seizures. These episodes were initially brushed off by her pediatrician as reflux. Luckily, we followed our parent’s intuition and got Avery to CHOP, where she was admitted for the first of what would be many stays.

It was confirmed that she was having seizures and the following weeks were spent trying to get them under control. While there, the neurologist sent a genetic panel to find out *why* Avery was having untreatable seizures. Three long weeks later, we had our answer – CDKL5 Deficiency Disorder.

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function.
The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development.