Samantha
Abel was born on February 15, 2021 — literally in the middle of a blizzard. My pregnancy and delivery were completely normal. There were never any signs that anything was wrong. I did end up having a C-section because my body wasn’t progressing as fast as he was ready to come out, but the surgery went great and I had no complications. When we brought Abel home and the months passed, I started noticing he wasn’t doing many of the things babies his age — and even younger — were doing.
I knew every child develops at their own pace, but something still felt off. I mentioned it a few times and was always reassured that he was fine. When Abel was 3 months old, I picked him up from daycare and noticed green gunk in his right eye. By the time we got home, his eye had swollen shut and it had spread to the other eye. His pediatrician told us to take him to Children’s Hospital. We didn’t even make it halfway there before he had a seizure. We had to call an ambulance, and he was rushed in.
They ran countless tests — blood work, scans, and genetic testing. Two genetic mutations came back: GRIN3A and COQ04. His dad also has the COQ04 mutation and is completely fine, so doctors believed that likely wasn’t the cause. At the time, they didn’t think GRIN3A was responsible either, simply because there wasn’t much known about it yet. Abel was diagnosed with infantile spasms, and we began the exhausting cycle of appointments and medications — trying everything, with very little success. At 8 months old, Abel smiled for the first time. We had never seen him smile before… or even cry. At 9 months, he stopped taking a bottle and began silently aspirating, which caused him to lose weight.
After more testing and appointments, he had an NG tube placed for three months before receiving a G-tube. That’s when he finally started gaining weight again. Fast forward to now — Abel is 5 years old, and he is doing amazing. We’re still working on head control, but he has come so far. He’s more vocal, more aware, and is starting to respond more than ever before. He absolutely loves therapy, and we go three times a week. While we still haven’t received much help or clarity regarding CVI, he does have glasses now.
He loves cuddles, bright lights, and being close to the people who love him most. This journey has been long, heavy, and emotional — but Abel is one of the strongest little humans I know. I am endlessly proud of him. He fights every single day without ever giving up, and watching him grow and progress, even in the smallest ways, is the greatest privilege of my life. 
He is strong. He is resilient. And he is so, so loved.
