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Living with SCN8A epilepsy

The endless marathon

Hi I am Raquel, mother to Jacqueline but everyone calls her Jackie. She will be 8 this 11/21. I had just about a normal pregnancy with almost no issues. I did have gestational diabetes but it was controlled with diet. At 36 weeks pregnant, I had to be induced for intrauterine growth restriction. My placenta was taken for further analysis to check for abnormalities but everything came back normal. Jackie seemed like a perfectly developing baby, but I remember at about a month old I would look at her and get a sense that something wasn’t right. I remember asking my mom but she thought I was just nervous. 2 months in, her first seizure arrived. The beginning of an endless marathon. First it started with a leg shaking, and a week later her whole left side. Then these shaking fits as I would call them started happening more. Developmentally she was showing signs of regression and was not meeting milestones. We started seeing a neurologist here in our county, and we felt at first like he would find the solution. But our first experience with that doctor was disastrous and he made us feel like it was our fault. He claimed that he would cure Jackie. It was a constant battle and nothing seemed to progress and she would continue to have seizures. Finally I told my husband one evening to drive to Children’s Hospital Los Angeles where we could get the answers we needed. The beginning to a path of answers. We spent almost 2 weeks there. Jackie had countless tests done and we found out the neurologist back home had diagnosed her with epilepsy. The doctors in LA were upset that we were kept in the dark. Jackie was diagnosed with infantile spasms, a rare form of epilepsy that could either be controlled with a steroid or not at all. Unfortunately she has failed just about every seizure medication out there. Jackie has undergone a lot in her short life. But after genetic testing we found out she suffers from an even rarer form of epilepsy, SCN8A epilepsy, which puts her twice at risk for SUDEP (sudden and unexpected death in epilepsy) Jackie’s conditions consist of SCN8A epilepsy, cerebral palsy, cortical visual impairment, global developmental delay, ataxia, astigmatism, dysphagia, quadriplegic, infantile spasms, and Dravet Syndrome. She’s had surgery for a vagus nerve stimulator for her seizures and a g-tube for her feeding problems. Jackie overall is a happy child. She loves being outside, and lets us know when she is happy or upset. She’s been able to enjoy life more by going to Disneyland or live sporting events. Even in her darkest hours where life throws her curveballs, she fights back and comes back with a smile. Life is short but we try to make the best out of it and cherish our time with her because we don't know if that may be our last day with her. This whole journey with Jackie has taught me what real strength and unconditional love is just by how she looks at me. I’m lucky to be her mom and I hope to see her and my youngest daughter Gianna grow up together. But if our time with her is limited, we’ve accepted it. Mommy, daddy and baby sister Gigi will cherish whatever time we did have together.

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