Epilepsy Center | A journey of hope for PACS1 syndrome at Boston Children’s Hospital's Epilepsy Center

Shortly after Alya was born, her mother noticed concerning movements and behaviors that were later diagnosed as seizures. Her family spent the next several years traveling the East Coast in search of answers and effective treatments. When genetic testing revealed PACS1 syndrome, an extremely rare and incurable neuro-developmental disorder, they were relieved to find Dr. Tobias Loddenkemper and his colleagues at Boston Children’s Hospital's Epilepsy Center, who specialize in rare and difficult-to-treat epilepsy. Today, Alya is a happy and active 9-year-old and is seizure-free, and her family is thankful to have Boston Children’s supporting them all the way.