Remi was born in October of 2017.  We had a normal pregnancy and delivery. Remi is a sweet, loving little girl with a BIG personality. She loves Minnie Mouse, animals, and babies. She enjoys riding her bike, playing outside, doing puzzles, and playing with her Barbies. She has one big brother who she absolutely adores. 

Our journey first started when we noticed that Remi was a bit behind her peers just before her first birthday. She had just started trying to crawl the night before her first birthday, sometimes had difficulty swallowing while eating, and was non verbal. We enrolled her in a daycare when she was one and a half where they noticed some areas that she was behind in and started her in physical, speech, and occupational therapies. She started to walk when she was two and a half. Her speech had not come along and her gait still wasn’t steady. Her therapists recommended that we ask our pediatrician about genetic testing due to her delays. Remi’s pediatrician agreed with the concerns and sent us to our local children’s hospital to visit with a geneticist who carried out genetic testing. We were given the diagnosis of GRIA2 in October 2021.  We were told it was a rare neurological genetic disorder that our local hospital hadn’t ever seen before. Our biggest concern was what this meant for Remi’s future but they could only tell us that it was up to Remi and how she responded to her therapies. They informed us that seizures and regression can also be common with this neurological disorder.  

This has not slowed Remi down. She is now 5 years old and still attending the same school with her therapists. She can speak some words and certainly knows how to get her needs addressed. We have good days and bad days. The bad days consist of behaviors when Remi is asked to do something she does not want to do. The main behaviors we have noticed are biting, pinching, hair pulling, and screaming.  We have got her in to behavioral therapy now. The good days are full of laughs, hugs, and kisses. 

We continue to take one day at a time and do whatever needed for our sweet girl.