My name is Beth Brownell and this is my daughter, Caroline. She has the GRIN2A mutation.

Caroline is now 13 years old and in the 8th grade. She was born after a pretty uneventful pregnancy but soon showed signs of development issues right after birth. We began our quest to better understand her and her health needs. She had already been diagnosed with Chiari Malformation Type I, Syringomyelia, Ehlers Danlos Syndrome Type III, and PFAPA Syndrome.  We found out that she was also having seizures.

Caroline had over 20 specialists and was going to therapies several times a week. We finally got the diagnosis of GRIN2a. We reached out to parents to better understand what our daughter was experiencing. Her lack of expressive language and slow response to verbal stimuli made more sense the more we learned about it.  We also found out that in addition to the tonic clonic seizures, she was having over 100 absent seizures a day. Once we finally found the right medication, her seizure activity reduced and she is now seizure free. Her health is mostly stable.

Caroline is making strides at school but still deals with auditory processing, expressive language, and memory challenges. She is developing her social skills and emotional regulation as she gets older. She enjoys going to the beach, doing makeup tutorial videos, drinking boba, taking pictures, and hanging out with her dogs.