The Full Story

At only 6 months old, our daughter Allison (Allie) was diagnosed with an extremely rare genetic disorder.  Most people generally do not understand the severity of the statement “rare genetic disorder”, even after they are told that only around 800 people in the entire world have the same diagnosis.  It’s only when you hold your child as she cries and screams and moves in painful ways during every seizure that you start to get the picture of how devastating a rare genetic disorder can be.  It’s only when you sit in a sterile hospital room and a stranger gives you the “never will” list that you start to get the picture of how devastating a rare genetic disorder can be.  It’s only when you live with the fear that every good night kiss may be the last that you start to get the picture of how devastating a rare genetic disorder can be.  Our beautiful, tiny, innocent daughter will never walk, will never talk, may be blind, will never be able to care for herself, may have a short life span, and will have thousands of damaging and life threating seizures over the course of her life.

In January of 2013, we were given the diagnosis of CDKL5…a rare, x-linked genetic disorder that results in early onset, difficult to control seizures and severe neuro-developmental impairment.  Allie’s first seizure was on the morning of July 17, 2012, at only 6 weeks old, and lasted one minute. We tried to comfort her through 11 more seizures while in the emergency room that day.  The choice was made to give her sedating medications to let her poor little body rest.  Over the next 2 years, Allie experienced numerous seizures per day, some lasting upwards of 20 minutes.  These were followed by unplanned hospital stays, a multitude of repetitive tests (some very painful), traveling to find answers that no one seemed to have, endless blood work and various medications, all with damaging side effects and even surgery.

We are blessed with the unconditional support and love of family and friends; but even they are not enough to suppress the overwhelming concerns that CDKL5 presents…constantly wondering what each day will bring.