Our 3rd child, Shirley Rose, born a few days after Thanksgiving in 2018. Shirley is the sweetest and most joy-filled little girl you will ever meet. Despite her suffering, she always has a smile for anyone she meets.
Shirley had her first seizure at 10 weeks old, and after much testing, the doctors concluded everything was fine and chalked it up to RSV. After a month, I started noticing delays in her gross motor skills, but she didn’t have any more seizures. But by the time she reached 4 months, her seizures started up with a vengeance.
After multiple trips to multiple children’s hospitals in our area, with no answers, we pursued genetics. On July 3rd, we received our answer; SCN8A variant of unknown significance. This variant or genetic mutation causes incredibly hard to control seizures and global delays. Shirley may never walk or talk. Again our hearts were devastated.