v-ATPase Alliance

On February 28th, Rare Disease Day, we were honored to be part of the PNRI Rare Disease Day 2025 Family Foundations! ??? Rare disease family foundations are a powerful force in advancing research ??, funding early-stage discoveries ??, connecting experts ??, advocating for change ??, and supporting families ??. Visit the link below and check the slideshow that highlights 31 rare disease family foundations represented at PNRI’s Rare Disease Day 2025 scientific symposium—organizations that work tirelessly to: ?? Fund early-stage research that may not receive government or industry investment ?? Connect researchers, clinicians, and industry partners to accelerate treatment development ??? Advocate for policies that prioritize rare disease research and patient support ???? Build strong support networks for families navigating complex diagnoses and limited treatment options Thank you Pacific Northwest Research Institute and Seattle Children's for having us and give us the chance to spread awareness for v-ATPase-related conditions. ?? Available here: https://lnkd.in/dbPScqZx #PNRI #PNRIRareDiseaseDay #FamilyFoundations #rarediseaseawareness #RDD2025 #Seattle

What an inspiring Rare Disease Awareness Month we had this February! ?? We’re overflowing with gratitude for the support, love, and awareness shared by our incredible community. Together, we’ve made a difference, but the journey doesn’t stop here. Let’s continue raising our voices - because for families affected by v-ATPase conditions, every day is Rare Disease Day. ???????????? #Grateful #RareDiseaseAwareness?#TogetherWeFight?#EveryDayCounts?#vatpase CURE Epilepsy National Organization for Rare Disorders Rare Epilepsy Network (REN) Citizen Health Global Genes Texas Children's Hospital SERaro.pt RD-Portugal

What an inspiring Rare Disease Awareness Month we had this February! ?? We’re overflowing with gratitude for the support, love, and awareness shared by our incredible community. Together, we’ve made a difference, but the journey doesn’t stop here. Let’s continue raising our voices - because for families affected by v-ATPase conditions, every day is Rare Disease Day. ???????????? #Grateful #RareDiseaseAwareness?#TogetherWeFight?#EveryDayCounts?#vatpase CURE Epilepsy National Organization for Rare Disorders Rare Epilepsy Network (REN) Citizen Health Global Genes Texas Children's Hospital SERaro.pt RD-Portugal

?? Office hours are back! Every 6th of every month, we will hold a recurring meeting to provide updates, share stories, offer an opportunity to ask and answer questions, connect with each other, and meet new members. Why the 6th? ?? All v-ATPase genes start with ATP6V-, so we decided to use the 6 as the unity symbol. On the 6th, we meet! ?? Let's take the time to check in with each other and move forward together, united! ?? ?? The first one is just around the corner: Thursday, March 6th. ?? ?? Starts at: 12 PM - Texas, Central time 1 PM - New York, Eastern Time 6 PM - London, GMT 7 PM - Central Europe Register here: https://lnkd.in/dzsxNqzN #CareAboutRare #vATPase #OfficeOurs #FamilyMeetings #United #StrongerTogether

What an incredible #RareDiseaseDay 2025! We aim to raise awareness for rare diseases, particularly on v-ATPase disorders, throughout the year. But today is special and all about celebrating rare and drive positive change for everyone impacted. Thank you to everyone who is participating today and hope you keep advocating for rare during the rest of the year. #careaboutrare #RareDiseases #RareDiseaseDay2025

Thanks to my friends at the vATPase Alliance for sending along this lovely shirt for Rare Disease Day! It's estimated that at least 300 million people suffer from a Rare Disease. As we take a moment to think about ourselves, our friends, and our family members suffering from a Rare Disease, let's figure out ways to support the community. That may be adding one more mutant line to an experiment, or raising money, or offering a little help to parents who are juggling too many things. We all need to Care About Rare to make a difference!

?? ?? ?? ?? ?? ?? ?? ?? #vATPase?#CareAboutRare?#WearYourStripes?#RareDiseaseMonth?#RareDiseaseAwareness?#rarediseaseday

This is amazing!!! We are so inspired today with all the people #ShowYourStripes and supporting Rare Diseases

#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

The Rare Epilepsy Network (REN) is an amazing network of individuals that works with urgency to collaboratively improve outcomes for rare epilepsy patients and families by fostering patient-focused research and advocacy. We are proud members of REN, and we are thrilled to have them partner with us today, on this Rare Disease Day, to help us talk about v-ATPase and raise awareness about this rare epilepsy condition! #RareDiseaseDay #vATPase #Epilepsy #RareEpilepsy #RareDiseaseAwareness