Kayla and her twin brother were born in June 2010, joining their sister who is 18 months older than the twins. She was an easy going baby who loved to play and be carefree like any typical child. She tried any food we gave her and ate a wider variety of food than her sister and brother. She was a very physically active baby and child. She was the fastest crawler we’d seen and she loved to jump on anything she could find. While her physical strength blossomed, her language skills lagged behind. Kayla received help learning to talk for a year before we realized there was more behind her lagging language skills.
Our journey with epilepsy began unexpectedly the morning of October 16, 2012 when Kayla’s cluster of seizures began at age 2 years, 4 months. This cluster of seizures lasted three weeks and was resistant to some of the anti-seizure medications. For two of those weeks Kayla was sedated and placed on a ventilator to support her breathing because she would stop breathing during each seizure. She had a continuous video EEG monitor for two weeks while doctors tried to find a cocktail of anti-seizure medicines that would break this cluster. During this time the search for the cause of her seizures went in many directions. Was it meningitis? Did she ingest something poisonous? Is her body attacking her brain? Did she have rabies? Slowly the doctors did test after test and checked off one thing after another as they ruled out what could be the root cause of her seizures. During her two-month stay in the hospital, we learned the cause of Kayla’s seizures is a deletion of the PCDH19 gene. Our immediate thought was how can we cure it? It was heartbreaking to hear there is no cure. Kayla would have to live with the effects of this disease.
In the time since her cluster of seizures, we’ve worked hard to help Kayla live with the many attributes of PCDH19 related epilepsy. Kayla’s recovery included extensive therapies to overcome effects from the disease and the medicines used to control her seizures. She learned to walk, talk and eat again. It was a long journey to regain all of these skills, and she continues to make progress. Today, she is able to speak again and is continually increasing her conversational language skills. Kayla loves to run, ride her bike and jump on everything and everyone around her. There are times where she acts out or gets upset when something doesn’t go her way, and we’re continuing to help her find ways to express herself with less frustration. Overall, Kayla is a genuinely happy girl, and we hope she continues down the path she’s on without seizure-related setbacks.
We know there is a long road ahead for Kayla because the seizures can return without warning. We also know that finding a cure for PCDH19 related epilepsy will take her down a better path in life. We are grateful that the PCDH19 Alliance is here to support our family and to fund research that will bring us closer to a cure. We have hope that researchers will find a way to give children with this condition a brighter future.