Dan joins David Rintell, Head of Patient Advocacy at BridgeBio to share the story of his long diagnostic odyssey and how ultimately a cancer scare attributed to his LGMD2I/R9 diagnosis. Dan shares that, during this time, he felt relief receiving a diagnosis, but it was quickly paired with the fear of facing the unknown of a progressive neuromuscular disease.  

Dan describes the challenges of traveling, living alone and developing the constant fear of falling. Fiercely independent, Dan is concerned about the future. Living with a progressive condition means that you are always forced to adapt and plan – as daily life gets harder and harder. Dan talks about the importance of connecting with others who are living with the same condition and how he looks for the blessings in life. Even though the prognosis of LGMD2I/R9 is scary, Dan remains hopeful that at some point there may be something that will help him with the progression of his disease.  

Divya Reddy, M.D., the Medical Director at ML Bio Solutions, a BridgeBio company, describes how LGMD2I/R9 (also called “LGMD R9 FKRP-related” in the new proposed nomenclature) is an inherited disease caused by a mutation in the FKRP gene. The FKRP gene is involved in helping muscles build a glycoprotein called alpha-dystroglycan. When the gene doesn’t work correctly, it causes damage to muscle tissue and over time develops into scar-like, fibrotic tissue. As fibrotic tissue overtakes healthy muscle tissue, muscle strength and function declines, and LGMD2I/R9 patients lose the ability to perform routine daily activities unassisted – such as walking or standing up.

To learn more about LGMD2I/R9 and the LGMD community visit the LGMD Awareness Foundation, the CureLGMD2i Foundation, and The Speak Foundation.