On July 23rd 2008 our daughter, Violet Millay was born. The next 11 months we lived our dream of being parents. Our hearts melted at Violet’s first smile, her first laugh, her first words. We had just sent out the invitations to her 1st birthday party, when Violet had a first that was not part of our dream for her: her first seizure. We were awoken around 3am to find Violet in her crib making a strange gurgling sound, then her eyes rolled back into head and she stopped breathing, and turned blue. We thought our baby was going to die right then and there. We called 911, and that was the beginning of a nightmare we would learn to call PCDH19 Epilepsy.
We spent two and a half weeks in the Pediatric Intensive Care Unit, being transferred to three hospitals when one could not help our girl; we tried numerous medications that should have worked, and the teams of physicians could do nothing to stop our baby from having violent seizures, sometimes 30 a day. Violet had over 200 seizures during that two weeks. With every seizure, she would stop breathing and turn blue and we learned the meaning of “code blue”. The moments when Violet was awake, she was unaware of who we were, and she had lost the ability to say “mama” or “dada” -the sweetest words we’d ever heard were gone and so was the daughter we knew. After numerous blood draws, MRI, CT Scans, PET Scans, we finally had a cause for Violet’s hard to control seizures. On December 15th we received the call to come into the Neurologists office to discuss Violet’s genetic test results. Violet had PCDH19 Epilepsy. Our Phyisician could only provide us the only two published articles on this seemingly rare condition. The first question we had was “is there a cure”, and the answer was “no”. Not only was there no medication that was sure to keep the seizures away, but regardless of how many or which Anti-epileptic drugs she is on, anytime Violet has a cold or virus she is at high risk of seizing and as she gets older the seizures will likely come with no known triggers at all, putting her life at risk with each one.
In an effort to control the seizures, Violet has been on and off of at least a dozen medications that inhibit her ability to learn, speak, sweat, walk and dull her bright personality. Since Violet was 11 months old, she has spent too much time in Intensive Care Units, ambulances, and emergency rooms due to numerous and sometimes prolonged seizures. Despite the numerous challenges she faces everyday, Violet loves life, works hard in school, and continues to make progress with her speech, motor skills, and social skills. Violet is absolutely enjoying the the 1st grade. She loves playing with her little brother, the park, the beach, and making new friends. As her parents, we make the absolute best of the times when she is healthy and happy, and with the PCDH19 Alliance we hope for and work toward a day when Violet can live without seizures.