Our Sweet Annabelle was born 2.5 months premature on March 10, 2008. After 62 days in the NICU, Annabelle was ready to come home with her parents and big sister, Ava. Once home, Annabelle progressed normally and hit all her milestones. She was a happy, chubby baby. Life was good.
Ten days before her first birthday our lives changed when Annabelle had her first seizure. While having a bottle, Annabelle's eyes popped open and she had a strange gaze that lasted a few seconds. This happened two more times before we recognized she was having seizures. Trying not to panic, we packed up and headed to the ER. These "gazing" episodes continued to occur on the way to the hospital. Once there, Annabelle stopped breathing during her seizures. We were terrified. Annabelle had 25 seizures those first few days. Her MRI and lab work were all normal. We were discharged home on new medication and no real answers.
Annabelle continued to have clusters of seizures and multiple hospital stays in the PICU until she was finally diagnosed with PCDH19 Epilepsy when she was four years old. While there wasn't a lot of information out there on PCDH19 Epilepsy, we were thankful to have a diagnosis and to find the support from others who are affected by this debilitating disease. Our family left the mountain town we loved to move back to the Midwest to be closer to the support of family.
Annabelle is now 9 years old and continues to have seizure clusters. She doesn't breathe during her seizures and medications don't seem to help. She has a nurse at school who is trained to treat Annabelle if a seizure should occur. She's been on several different medications through the years that affect her behavior, speech and ability to focus. She enjoys school, though her work has to be modified and she requires extra help and time to complete assignments.
Despite Annabelle's challenges, she is the most strong, brave girl we know. She loves being a little (and now big) sister, dancing, swimming and monkey bars. Annabelle is amazing, but our hearts break for her and for thought of what might have been without PCDH19 Epilepsy. We hope that no one has to go as long as we did before getting a diagnosis. We are so thankful for the Alliance and hope that through research, a cure or better treatment can be found.