Baby Violet’s PCDH19 Story
September 23, 2013
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, and 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 woke up at 3am to find Violet in her crib making a strange gurgling sound, then her eyes rolled back and up to the right, she stopped breathing, and she turned blue. We thought our baby was going to die right then and there. We called 911, and that was the beginning of this nightmare called Epilepsy.
We spent two and a half weeks in the Pediatric Intensive Care Unit, transferred to three hospitals, tried at least 6 medications and the Physicians could get not get our baby to stop seizing. Violet had over 200 seizures during that two weeks. With every seizure, she would stop breathing and turn blue. 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. 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 got the call to come into the office to discuss Violet’s genetic test results. Our Doctor could only provide us the only two published articles on this rare condition that our daughter had. The first question we had was “is there a cure”, and the answer was “no”, and there was no medication that was sure to keep the seizures away. 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.
In an effort to control her seizures, she has been on and off of medications that inhibit her ability to learn, speak, sweat, walk and dull her bright personality. Since Violet was 11 months old, she has been in and out of Intensive Care Units, ambulances, and emergency rooms. Violet continues to make progress with her speech and her motor skills, although she remains delayed. She thoroughly enjoys being tickled and chased, loves her family, and loves to go to school. As her parents, we make the absolute best of the times when she is healthy and happy, and we continue to hope for a cure.
In March of 2012 the PCDH19 Alliance Received their 501 (c)3 to become the first US charity dedicated to raising awareness and funds for research into PCDH19 Female Epilepsy. For more information on PCDH19 please visit: https://www.pcdh19info.org/
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