PCDH19 Related Epilepsy
“Sloan had her first seizure when she was eight months old. After several seizures and a variety of treatments we thought the seizures were a fluke and believed she would never have another. Fourteen months later the seizures returned and genetic testing confirmed our daughter has a mutation of the PCDH19 gene.
In addition to her seizures, Sloan is at high risk for autism, developmental delays, and intellectual disabilities. It took some time, but our family has learned to adapt.
Since receiving her diagnosis, Sloan has had many more seizures, been prescribed various medications, and has endured more hospital stays. Despite it all, she bounces back after every seizure cluster and continues to meet her developmental milestones. Sloan surprises us with new skills every day and is the sweetest, funniest, spunkiest little girl our family could have been blessed to have.”