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Steph was born having seizures and had no normal brain activity so we were told she would not live and there was nothing doctors could do. She thrived despite the predictions and at age 18 was finally diagnosed with KCNQ2 which had just been discovered through whole exome sequencing. We are so happy to have a small close knit group of families with the same disorder so we can share our daily struggles and joys with!
Steph continues to thrive and gain new skills daily. She has come so far and still surprises her doctors 🙂
