Born in 2019
Henry was born on April 15, 2019, as a healthy and happy baby. At 4 weeks old, he had his first seizure. We spend the next few months in and out of the hospital attempting to find a cause and to treat his epilepsy. Henry underwent a multitude of tests including an EEG, spinal tap, blood work, and an MRI that couldn't diagnose the problem. We started treating the seizures and finally found a combination of medications that worked to keep him seizure free right around his first birthday (Phenobarbital, Keppra, and Trileptal) . We have since weaned him off two of the three medications. As of his last EEG (Aug 2022), there was still activity in his parietal lobe consistent with epilepsy. We will repeat the test in a year and revisit weaning his medication based on the results. He continues to take Trileptal twice a day. At Boston Children's Hospital, we were referred to a geneticist for additional testing and shortly after received Henry’s official diagnosis of PACS2.
He has been in Occupational therapy since he was 6 months old and we eventually added speech and physical therapy. At 18 months, at his neurologist's recommendation, he was evaluated and diagnosed with Autism Spectrum Disorder. We now receive ABA therapy in addition to his other therapies. Henry has also started a preschool program, doing half days since his third birthday. He loves it and is thriving! He has global delays and is nonverbal, but we are working on basic sign language, speech and begun using an ACC device/photos to help him communicate. He has been working hard on mastering these skills.
Henry is the happiest, sweetest and snuggliest boy. Everyone who meets Henry falls in love with his laid back and silly nature. He loves to swing, jump and climb and loves being outside as much as possible. We love watching him constantly progress and can’t wait to see what's in store for him in the future.
Phenotype as of October 2022 ( 3.5 years old):
- global delays
- focal Seizures (seizure free since June 2020)
- particular about food textures and flavors but getting better at exploring new options
- Trileptal 2x a day
- Physical Therapy
- Occupational Therapy (school and private)
- Speech (school and private)
- ABA Therapy