Miles (2023)

CACNA1E c.2104G>A p.(Ala702Thr)

We found out our Miles has Cacna1e when he was only 7 months old. While pregnant, we were told he would have bilateral clubfeet, but not to worry as it is most likely idiopathic. Fast forward to August 2023 and we are quickly admitted to the children’s hospital for eating issues and found his hypotonia which led to genetic testing. However, this diagnosis is only a small part of who Miles is. He is our Superman who loves to dance with mom, practice playing musical instruments with his sister, smile and laugh from ear to ear, and watch sports with dad. He continues to defy gravity every day with all the new things he’s learning like holding his head up and how to sit up. We can’t wait to find out what Miles will discover in his second year.