“I have 2I, but I am not 2I.” Misty’s Journey Living With LGMD2I/R9
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In today’s episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, speak with Misty about her experience living with limb-girdle muscular dystrophy, type2I/R9 (LGMD2I/R9). Misty details the suffering she experienced in her childhood from bullying for the symptoms she now realizes are connected to LGMD2I/R9 and shares the many frustrations and significant challenges that resulted from her delayed diagnosis. Despite noticing alarming symptoms as early as junior high school, Misty was dismissed by medical professionals for years. Finally, and only after both her younger twin sisters were diagnosed with LGMD2I/R9, Misty received her own genetic confirmation of LGMD2I/R9. She was 32 years old. Receiving her diagnosis was like an emotional tornado, and immediately, Misty feared that she may have passed LGMD2I/R9 on to her children. Throughout her journey, Misty has tried to hold on to the positives. She talks about the creative ways she has adapted to life with a progressive disease and emphasizes the importance of showing oneself grace and finding community.

Ada Lee, M.D., the Medical Director at ML Bio Solutions, a BridgeBio company, the program working on LGMD2I/R9 provides a medical overview. She explains that limb-girdle muscular dystrophy (LGMD) is an umbrella of diseases associated with progressive muscular weakness in the girdle muscles, some of the central muscles that support limbs. LGMD2I/R9 (also called “LGMD R9 FKRP-related”) is a genetic 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 people living with LGMD2I/R9 lose the ability to perform routine daily activities unassisted—such as walking or standing up. Because it is a rare disease that can have a variety of symptoms early on, many people with LGMD2I/R9 have prolonged pathways to diagnosis.

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