Rare Awareness Radio with Kristin Anderson (v-ATPase Alliance)
In this deeply moving and insightful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Kristin Anderson, co-founder of the v-ATPase Alliance, a global community of parents, caregivers, scientists, and advocates dedicated to one of the world’s ultra-rare neurodevelopmental disorders.
Kristin shares the powerful story of her son Jacob’s diagnostic journey, the overwhelming isolation of initially finding no information or community, and the spark that led her to create a Facebook group that slowly—over many months—began connecting families from across the world. Today, that spark has become an international alliance serving fewer than 100 known patients worldwide across several v-ATPase-related genes.
Together, Richard and Kristin explore:
🔬 The Science & Rarity
Why v-ATPase disorders are considered ultra-ultra rare
How recent genetic discoveries (2018–2022) are transforming diagnosis
The critical importance of early access to whole-exome and whole-genome testing
🤝 Building Community Across Oceans
How families meet monthly over Zoom to share updates, grief, hope, and progress
The profound connections formed through shared lived experience
The emotional realities of meeting other parents face-to-face—sometimes in moments of both joy and heartbreak
📣 Advocacy, Policy & Research
Why data sharing and patient registries (via Global Genes/RareX) are essential for future treatments
The Alliance’s work with researchers in Italy and around the world
How rare communities band together across diagnoses to push for scientific advancement
The urgent need for policy change to democratize genetic testing
❤️ A Mother’s Determination
Kristin opens up about balancing life with three boys (including her joyful, nonverbal 12-year-old son), the impact on siblings, and how her background in business, marketing, and nonprofit leadership shaped her approach to advocacy.
She shares her belief that while the Alliance may not find answers in time for every child today, the work being done now will help future generations.
💡 Call to Action
Kristin leaves viewers with a powerful message:
“Please care about rare.”
Support equitable access to genetic testing.
Support legislation that accelerates rare disease research.
Support families who live these journeys every day.
And when possible, support with radical generosity.
✨ About This Series
Rare Awareness Radio amplifies the voices of rare disease families, scientists, founders, and advocates working tirelessly to bring light to conditions that the world often overlooks.
For more information, please visit - https://vatpasealliance.org/
