Abel was born on February 15, 2021. (Literally in the middle of a blizzard). My pregnancy and birth was normal, there was never a sign that anything was wrong. I did have to have a c-section because my body wasn’t going as fast as he was trying to come out. But c-section went great, I had no problems with it. When we got Abel home after a couple of months I noticed he wasn’t doing a lot of the things that babies around his age and younger were doing, but I also know everyone learns at a different rate.

I know I did mention it a couple of times and everyone was saying like, oh he’s fine. Well, when he was 3 months old, I picked him up from daycare and he had green gunk in his right eye. By the time I got home it was closed shut and moved to the other eye so we decided to take him to Children’s (per his pcp). We didn’t even get half way and he had a seizure so we had to call the ambulance and they rushed him here. They ran all the tests and did all the blood work and genetics test. Two genetic tests came back. Grin3a and coq04. His Dad has the coq04 and he is fine, so I think they said it’s most likely not causing everything.

At that time they didn’t think the GRIN3a was causing his issues because they didn’t know anything about it. They thought he just had infantile spasms. So now we are going to appointments like crazy, trying all different medicines, but nothing is working.

At 8 months he got his first grin! We had never seen him smile or cry for that matter. At nine months, he got to where he would take a bottle without silently aspirating and losing weight. We had more appointments to see what was causing those issues. We had an ng tube placed for 3 months before we got a g-tube. He finally started gaining weight again.

He is now 3 (February) and it’s been a lot of appointments and medication. He is more vocal, but he doesn’t play with toys, can’t hold his head up, even his babbling isn’t like a “normal” babble! The medicine we are on now has calmed his seizure activity down a lot, but he still has them all day. He’s more aware now, but sometimes it’s like he doesn’t even notice you are there. We are trying to see if he has CVI. The eye dr referred us to a retinal specialist and said he can look more into it, but he does have a lot of the symptoms for that. Now we are just trying to get where I can stay home with him so I can put 100% into getting him where he needs to be!