On March 17, 2015 during her first PEMU stay we agreed to send off lab work for genetic testing. When the neurologist brought up the suggestion stating it was to rule out genetic causes of epilepsy, I shrugged my shoulders in a cocky manner because Sam and I had genetic testing done through a reproductive endocrinologist prior to any pregnancy, and everything as far as genetic compatibility went, checked out great. Of course, in my mind, Sonzee didn't have anything genetic, how could she? On March 26, 2015, the lab received her sample and began to compare her genetics to that of 187 genes associated with causes of epilepsy. Life for us carried on, but oh, how naive I truly was.
4 years ago yesterday the report was sent to the hospitalist at Phoenix Children's Hospital. Theoretically, her fate was sealed with that fax, but really it was always present; before I even knew I was pregnant, the entire 9 months I carried her, and for those first few weeks of her life during every questionable movement that was attributed to "baby's do weird things". Who would have even considered a genetic mutation for epilepsy? Who knew such a thing existed, especially with no family history? I honestly didn't even think about the potential positive result phone call, thinking back I don't even remember thinking about the tests after they were sent off. While there was "no reason" for her epilepsy, that was "okay", it meant she could grow out of it, and that's what we wanted, that's what we hoped for, but that is not what we got.
4 years ago today, the hospitalist who sent for the testing electronically signed that she received this document. I wonder if she had even heard of CDKL5 before this was placed on her desk. I know when her neurologist at that time received the result she had not. We remained blissfully unaware of what was sitting less than 5 miles away for another 4 days until her neurologist called to let me know she received results. I wish I could remember life before seizures, before hospitalizations, before real worries and fears, before life with CDKL5 became our world and our normal. I wish I could remember what I was like as a parent before our lives became consumed with all things CDKL5, before my naivety of the medical world was stolen from me, and essentially before her fate was signed, sealed, and delivered on a faxed piece of 8 x 11 paper to a doctor we hardly knew.