The story of Stephanie

In 2019 our daughter was diagnosed with epilepsy. We noticed a decline in abilities and trouble with walking so we had further testing done. An MRI and whole exome sequencing revealed a variant in gene eif2ak2. We came to learn of 15 other children with similar clinical symptoms and this gene variant. Sofia was diagnosed with Leukodystrophy in 2020. Leukodystrophy is a rare progressive neurodegenerative disease. There are no cures only symptomatic treatment. We enrolled Sofia in a research study at Baylor College of Medicine where they are researching how this gene effects the cells on a molecular level. Our hope is that research will continue and one day a clinical trial for a treatment option will be available. Our family started a charity organization to raise funds for research for Epilepsy and Leukodystrophy. This summers event raised $28,000 for research. Founding this charity has helped our family mentally and emotionally to deal with the heartache and acceptance of Sofia’s diagnosis. Sofia’s story has sparked many fundraisers and inspired further efforts for inclusion in our community. Sofia takes several medications, is on a medical diet and attends various therapies each week to help her maximize her full potential. She is a real life hero and we are so proud of all she’s accomplished! It’s important to us to continue our fight for awareness and a cure for our daughter and all those suffering from these rare, life limiting disorders. 
The Kale Family