#Epilepsy is common in people with v-ATPase. While our group funds research to better understand v-ATPase, organizations like CURE Epilepsy are doing the same to better understand the causes and treatment of epilepsy. Rare genetic epilepsy is a priority research area for CURE Epilepsy and together we are part of the Rare Epilepsy Network. Today we want to introduce you to this lovely lady with her story told by her mom, Cindy. "Anny, a joyful child with unique toes and a quirky laugh, a ray of sunshine in our life. From her earliest days, we noticed things weren't quite lining up - a little behind with her milestones, her teeth were fragile, her muscles were weak and a tiny appetite that could test the patience of a saint, such a picky eater. Then came May 2. A night that etched itself into our hearts. Anny, barely warm with a temperature of 38.5C (101F), suddenly seized. It wasn't just a shiver or a shake; it was a full-blown storm. Six minutes that felt like an eternity. Her face turned a shade of blue that I never want to see again, her eyes rolled back, and she fought for every breath. Panic choked me. We called emergency services and the hospital became our temporary home. Those hospital days were a blue of fear and flashing lights. More seizures. More questions. But amidst the chaos, a tiny seed of hope was planted. Those seizures, as terrifying as they were, became a turning point. They were the key that unlocked the door to answers, the path that led us, finally, to the diagnosis of ATP6VA. Now we knew what we were fighting and we found v-ATPase Alliance, the only organization in the world whose mission is to help Anny and all other kids affected in v-ATPase genes." The story can be found at https://lnkd.in/dJ48ruqm Get to know her story and others! #CareAboutRare #RareDiseaseDay
