Our daughter Kasia is the most funny and adventurous kid. She is curious like no other; she loves music, dance and electronics are her favorites. She also loves water and is a pretty good swimmer. Kasia could spend all day outdoors playing with plants, feeling the wind and just exploring the surroundings.
Kasia has a rare genetic mutation called Syngap1. She was diagnosed in October 2020 after three years of searching for a reason for her developmental delays. She was born a seemingly healthy baby, it wasn’t until 6 months her eyes started shaking and she was diagnosed with nystagmus. We also noticed a gross motor delay and started testing. She had brain scans, evaluations, and everything was coming back normal. We started physical therapy. She crawled at 14 months and started independently walking at 2 years, 4 months. She was delayed but we were hoping she would catch up. At 16 months we added speech, occupational and feeding therapies.
At 3 years old--when she still wasn’t speaking--we took her to a geneticist. Diagnosis gave us a road map to her medical condition and soon after we learned that she is having frequent seizures, we just didn’t recognize them. We also gained a support group of friends with children with the same diagnosis, which was and is a lifeline for us. When you are a parent and you learn that your child is very ill with a rare disease you think that there is no hope, no one will care. The incredible parents of SRF gave us realistic expectations, hope for treatment/cure and a chance for our Kasia to have a life we all want for her. We believe in her and I hope the world will too.