Abby’s Fundraiser – GRIA2: DONATE
Abby was born in December 2020 with two holes in her heart, called an ASD and a VSD (most likely not part of her GRIA2 disorder). She was a very sleepy baby, and lots of reflux. She was very thin because of the holes making her too tired to drink.
At 7 weeks old, Abby’s heart was repaired. The surgery went great except for the scary but common complication of post operative arrhythmia. They put her on some heart meds, and after a few extra days in the hospital, we went home.
By April 2021, she was on a reflux med that helped, and she was starting to catch up. She babbled by May, made great eye contact, started to grab at (even bringing to her mouth a few times) toys, and was sitting well in a high chair, but not able to sit alone or in tripod yet. She also started purees with no problem. We thought everything was behind us and we could just watch her thrive. I started worrying about childproofing the house because surely grabbing objects and crawling were right around the corner.
Sadly, by March 2022, ten months later, those things didn’t come. We lost eye contact and babbling. We were not significantly closer to sitting independently. We did learn to roll both ways and grab our feet, though.
During the past ten months of Abby’s plateau, I really became concerned she had another genetic condition called Rett syndrome. I felt this way because she would not use her hands to reach for objects anymore, and became obsessed with staring at them. Responses of her Dr.’s ranged from “I guess it could be possible, but unlikely” to outright dismissal.
We finally got our genetics results back in February 2022: GRIA2. The geneticist also sent us a research paper on the disorder and there was validation that although it was a different disorder, I wasn’t paranoid : ” Rett-like hand movements, no purposeful hand use” right there is the possible symptoms list.
And another shocker! My husband has the disorder, too. For some reason, he was much less affected. He has autism, and didn’t walk until he was 2 years old, but my husband is very mildly affected. Unfortunately, this meant that we had a 50pct chance of passing on the gene mutation again, and I was already in my late 30s when we had Abby, so she is our only child. We did find a wonderful neurologist who has experience in both Rett disorder and GRI disorders- she treats both in her clinic.
I was asked to update this story in early 2026, and I’m so happy to do so. When I first wrote this story in 2022, we didn’t know if she would ever use her hands, sit by herself, or communicate. Well, I’m so happy to announce she does all three things, and walks independently, too! (Even though she has used her hands to get into all sorts of messes- we definitely did have to childproof the house- LOL, and she communicates via talker or taking our hands to what she wants).
I wrote in 2022 that I felt all my dreams of teaching my child about the world were slipping away- and yes, I likely won’t get to teach her a lot of things that I hoped to. But she has also come soooo much further than I imagined she could back during the darkest days of 2021and 22. She rides horses with just a supportive saddle and one hand from the instructor on her back, she WALKS independently (with AFOs), she plays with at least a few toys and can make choices. AND I’ve gotten to have conversations with famous researchers (I was a science nerd as a kid so SUPER COOL), and I’ve learned just how strong all 3 of us really are, and I’ve learned to use the gifts of advocacy and compassion that my mom gave me.
For the newly diagnosed reading this: Life probably won’t look exactly how you imagined it. But things may very well get at least a little better, and I believe in all of you and your children to navigate this new reality. And together we really can help keep advancing research for treatments and a cure. We and our kids are all so very strong and capable.
