Sofia is a happy, loving, and beautiful child. Epilepsy is a part of her, but it doesn’t define her. She enjoys being outside, reading books, watching movies and spending time with family. She has a younger sister named Addilyn and so many people who support and love her!
Sofia was diagnosed with epilepsy in May 2019 after being rushed to the ER following two back to back tonic clonic seizures. That was one of the scariest moments of my life, and the most helpless I have ever felt as a parent. Prior to epilepsy, Sofia developed on track and met majority of her milestones except a minor speech delay. Since her diagnosis she has had regression in majority of her abilities. Sofia has had multiple hospital stays and trialed 6 different anti-seizure medications, none of them controlling her seizures. There were days Sofia would have upwards of 50 seizures a day, causing a profound impact on her quality of life. Some of these seizures would make her fall causing her to suffer injuries, some would render her unconscious requiring rescue medication and others would hinder her ability to play, eat or walk.
We discovered an alternative treatment for epilepsy – the ketogenic diet. The medical ketogenic diet is a strict, calculated and weighed diet that is a high fat low carb+protein ratio. The medical keto diet for epilepsy has shown the most promise in controlling her seizures and allows her to have a better quality of life than when she was on multiple medications. After a child fails two anti-seizure medications, the odds of them achieving seizure freedom is less than 10%. The medical keto diet offers a 50% chance of a 50-90% reduction in seizures, without the harsh side effects of medication.
Here’s where her story takes a turn… Sofia doesn’t just have epilepsy… in July 2020 she was also diagnosed with an undiagnosed form of Leukodystrophy. Leukodystrophies are neurological disorders that cause abnormal growth or destruction of the brain’s myelin sheath. These disorders are rare; 1 in 7600 people have them. They are typically progressive and often times fatal disorders. Leukodystrophies cause loss of abilities such as walking, fine motor skills, cognitive function, eating and swallowing. There is no cure. Only symptom management. For Sofia, epilepsy is a symptom of her Leukodystrophy. Our best chance at providing her the most fulfilling life possible, is by controlling her epilepsy and other neurological symptoms to the best of our ability. Sofia sees multiple specialists across different states and attends 6 therapies a week.
Sofia is a fighter, and in our family no one fights alone. She has changed my life for the better, and made me a better human being and for that she is my hero.