A Rare Disease Day Special

In honor of Rare Disease Day, this episode of the Macie’s Mission Podcast shines a spotlight on the rare disease community and the urgent need for awareness, earlier diagnosis, and continued research. Jeff and Caitlin sit down with Gabby Zeppieri, founder of Gabby’s Wonderful World, whose personal journey embodies the challenges faced by millions living with rare conditions.

Gabby lives with neutral lipid storage disease with myopathy (NLSD-M), an ultra-rare genetic disorder, and shares her powerful story of navigating nearly ten years of misdiagnosis before finally receiving answers through blood findings and genetic testing. Her experience highlights a central message of Rare Disease Day: while each condition may be rare, the collective impact on families is significant, and timely diagnosis can be life-changing.

She opens up about managing progressive muscle weakness while working full-time as a school psychologist, all while maintaining an intense schedule of therapy and physical training. Gabby also explains NLSD-M in clear, accessible terms, underscores the importance of advocacy and community support, and reflects on how connecting with others in the rare disease world has been essential to her journey.

The conversation also explores how her foundation aligns with the mission of Rare Disease Day by raising awareness, bringing families together, and helping fund critical research. 

This episode serves as a reminder that Rare Disease Day is not just about one day or one diagnosis, it’s about amplifying voices, building community, and pushing forward toward better treatments and brighter futures for all affected.