Jun 13, 2023 32:25 min listening

Finding Rare Disease Treatments: 2 Patient Leaders Share Their Stories

Monkol Lek and Rachel Alvarez smile on a pink background.

Rare disease is not rare. More than 7,000 rare diseases affect over 300 million people globally. The vast majority are not well understood, and less than 5% have approved treatments.

Yet, worldwide, patients are meeting these challenges head on. CZI’s Rare As One Project brings together rare disease patients and advocates in their quest for cures.

Patients are experts in their disease. Their knowledge has the power to dramatically accelerate the pace of research, providing critical insights about diseases, fueling significant discoveries, and driving research breakthroughs. We work to support their efforts by offering new tools, grants programs, and capacity-building support and training.

In a recent podcast episode with The Story Collider, two of our Rare As One partners share their stories and experiences navigating diagnosis and organizing their communities to accelerate research, identify treatments, and change the course of their diseases.

Hear from Rachel Alvarez of Cure CMD, who after ending up in the emergency room for the third time, struggles to understand what’s going on with her health. You’ll also hear how Monkol Lek of Yale University refuses to give up on his ambitions as a young adult with muscular dystrophy.

Listen above for the full audio conversation.

This story was written and produced by The Story Collider, a podcast that tells true, personal stories about science, in partnership with the Chan Zuckerberg Initiative. For more stories like this one, visit the show’s website.

Also listen: 2 Rare As One Grantees on Why They Founded Patient-Driven Research Organizations

How AI Can Uncover the Laws of Biology
This Research Team Is Increasing Indigenous and Latin American Representation in Genomics Research