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.