In January of 2020 our caboose, Asa, was diagnosed with GRIA1 at only 1 and a half years old. We were in shock and disbelief due to this being his third diagnoses and how rare the mutation is. When Asa was 5 months old we found out that he was profoundly deaf he then had surgery for bi-lateral cochlear implants at 13 months old. He is non-verbal and we use ASL to communicate. When he was around 1 we found out he has a collagen duplication that makes him create extra collagen so he has lots of elasticity. This affected his ability to sit up and walk. He crawled until he was 3 and over the years his walking has gotten so much better.
Our geneticist is confident that all three diagnoses are independent of each other as there haven’t been any found connections of causation. Regardless of his diagnoses and his global delays, he is truly thriving. Asa is a second grader in elementary school and is in a SPED self contained class. He does exceptionally well at school and loves to learn.
Asa is rambunctious, loves to laugh, is always smiling and giggling, loves his brother, his dog, and carbs. Puzzle solving and flashlights are his obsessions. Terrorizing people is a specialty of his and he’s very good at that. We love him so much and are so proud of his growth.
He has come so far in 7 and a half years. We can’t wait to see what the future holds for him. We love our Asaritto!!
