A Decade of Determination: Real Research on UBE2A Begins!

After 10 years of hard work, advocacy, and unwavering hope, I am beyond thrilled to share some life-changing news: real research on UBE2A Deficiency Syndrome is officially underway!
This journey has been one of persistence, fueled by love for my son and a deep commitment to supporting families affected by this ultra-rare genetic disorder. And now, partnering with Mayo Clinic and the University of Minnesota, alongside dedicated rare disease doctors and medical researchers, we are taking a monumental step forward.
Major Milestones Reached:

• Research Launch: We’ve secured our first $20,000 grant, allowing us to begin comprehensive research in both English and Portuguese.
• Global Collaboration: Families from across the globe have graciously agreed to participate in this long-term family study, creating a diverse and invaluable research pool.
• Future Goals: The team aims not only to publish findings in medical journals but also to build a dedicated website and establish a formal foundation for UBE2A awareness and advocacy.

What This Means:This is more than just a scientific endeavor—it’s a beacon of hope. For families living with UBE2A, this research could unlock critical insights into diagnosis, care, and treatment options that were previously unimaginable. It’s a step toward answers, progress, and connection.
A Heartfelt Thank You:I am so proud of the UBE2A community—families who have opened their hearts and lives to make this research possible. Your courage and willingness to participate in this study are the foundation of what we’re building together.
I’m also deeply grateful to the incredible medical professionals who believe in this mission and see the potential in our shared efforts.
This is just the beginning, and I can’t wait to see where this journey leads. Thank you for believing in this cause and standing with us.
With hope and gratitude,