Dealing with a Rare Diagnosis: Our First Genetics Appointment

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.

The Pompe Community

In this episode of the Macie's Mission Podcast, hosts Jeff and Caitlin discuss the crucial role of community for families dealing with Pompe Disease. They are joined by Julie Duenges, a board member and mother of two daughters, diagnosed with Pompe Disease. Julie shares her personal journey from the initial diagnosis to finding support within the Pompe community.   The episode emphasizes the emotional and logistical challenges faced by families, the significance of community support alongside medical treatment, and the positive impact of connection and mutual aid among families dealing with rare diseases.

Launching our First Pompe Fundraiser

In episode three of the Macie’s Mission podcast, Jeff and Caitlin recount their experiences around the first fundraising event for Pompe disease, highlighting community support and awareness efforts. They are joined by Peggy, Macie’s godmother and vice president of Macie’s Mission, who was integral to planning and execution. The podcast dives into the urgency felt to take action and the rapid organization of their inaugural event, which successfully raised over $10,000 for the National Organization for Rare Disorders (NORD). The episode reflects on the challenges and learnings from their initial efforts, the emotional impact on the family, and the support from friends and family. The podcast concludes with a teaser for future episodes, focusing on the importance of research and their involvement with Duke Children's Hospital.

Dealing with a Rare Diagnosis: Our First Genetics Appointment

In this episode of the Macie's Mission Podcast, Caitlin and Jeff Harris discuss their emotional first appointment with a genetics team following their daughter Macie's diagnosis of Pompe disease. They share their initial reactions, the important information they received, and how they plan to navigate their daughter's treatment and monitoring. The episode also touches on the importance of understanding rare diseases, the support of a dedicated medical team, and the challenges faced during the early stages of the diagnosis. Join them as they recount the journey from shock and confusion to taking proactive steps for Macie's health and future.

The Diagnosis That Changed Everything

Join Jeff and Caitlin Harris as they share the emotional and life-changing experience of learning their daughter Macie’s diagnosis of Pompe disease. In this opening episode, they reflect on that pivotal day, the challenges that followed, and the strength and hope that carried them forward.