05/08/2026
Meet this week’s patient spotlight: Sofia
Her mother shared:
Hi! My name is Sofia and I am 6 months old!
I love tummy time, trying new foods, and babbling with my mom and dad. I smile, laugh, play, and love talking to everyone around me. Even though I’m still little, I’ve already overcome so many big challenges.
When I was 4 months old, I started having seizures. My doctors were very confused because all of my tests kept coming back normal. My MRI was normal, and I wasn’t showing many other symptoms. After lots of appointments and testing, my doctors decided genetic testing would be the best next step. That’s when my parents found out I have a mutation in my DYNC1H1 gene.
My journey has been a little different from other babies my age because my variant is currently the first of its kind that doctors have seen so far. That means nobody really knows exactly what to expect for me yet. At first, my mom and dad were very scared, but catching my symptoms early helped me get the support I need.
Now that I’m 6 months old, I’m continuing to hit milestones, maybe not as quickly as some other babies, but I’m getting there in my own time! Recently, I developed a new seizure type, called infantile spasms, but thankfully I am no longer having them. My parents are so happy seeing all the progress I’ve made.
I go to occupational therapy and physical therapy every week, and I love my therapists! They help me grow stronger every day, and I’ve been reaching so many of my goals.
My story may look a little different, but I’m still a happy baby girl with a big smile and lots of determination. My parents wanted me to share my story in case there are other families out there going through something similar. It can feel really scary in the beginning, but early intervention, support, and love can make such a big difference.
Who knows what the future holds for me, but for now I’m going to keep growing, learning, smiling, and getting stronger every single day!
