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A busy wife, mother, attorney, and dog lover, Cyndy has been living with LGMD2I/R9 for more than 25 years. In her mid‑twenties, she began experiencing difficulties walking up stairs. Still, despite many tests, muscle biopsies, and interactions with doctors, it was more than 2 decades before she had a definitive diagnosis. “For 25 years, I lived without a diagnosis. I was having more and more difficulty climbing steps, more difficulty walking distances. [I] started to use a cane and then used a mobility scooter for distances. Most of the time, I was physically fatigued, but I was determined to live a full life and focused on my work.”

Of her own volition, she purchased a genetic test kit, and the results indicated she was a carrier for LGMD2I/R9. This testing led her to a more thorough and extensive genetic test and, ultimately, a definitive diagnosis. “There was definitely a sense of relief in thinking, ‘Okay, now that I have it, I know what I can do to manage it.’ But the downside is that some of the things that can result from this disease are terrifying and can be deadly. And just sort of seeing how my disease has progressed over the years, it made me very scared of what was to come. Thinking about, ‘Am I going to be able to manage my family? How are they going to handle it?’ It opened up a lot of questions.”

She encourages everyone living with LGMD2I/R9 to seek support from others who are on their own personal journeys and to become advocates for themselves and others living with the condition. “Learn as much as you can, do research on your own, and assemble your own team of health care professionals who are knowledgeable and experienced in limb‑girdle disease.”

When Seamus was about 8 years old, he and his family noticed he was having trouble walking. He also experienced extreme fatigue and pain, which prevented him from bike riding, swimming, hiking, and running as energetically as his siblings and from focusing during school. He didn’t know what was causing the problems. “I just knew that I hurt when I moved.”

Getting a diagnosis was not straightforward, but after ruling out potential tropical illnesses and other diseases that could have caused his symptoms, he was ultimately diagnosed with LGMD2I/R9.

“I was confused at first and sad. I didn’t know anything about it.” Seamus’s mom, Annie, was very scared in the beginning. “I was terrified he would just wake up one day and not be able to move.”

At school in Johannesburg, sports were an especially important activity, and being unable to join in was hard on him. He also found that teachers and classmates were often not sympathetic. He described one particularly cruel classmate and some teachers who berated him, asking why he could walk in the early part of the day but had to use a mobility device later in the day. He liked drama and thought that participating in the school play would be something he could excel in and enjoy, but he was unexpectedly cut from the cast. Having so few opportunities for extracurricular activities was hard, and he was very discouraged.

When asked what advice Seamus might give to another child newly diagnosed with LGMD2I/R9, he said, “Know what your own power is—your capabilities and limitations. Expect other people to be confused and not always understanding. Also, find things you like even though they may not be everything you want to do.” Annie added, “Turn fear into problem‑solving and think about what changes you can make to adapt along the way. Try to not get too caught up in what you can’t do and keep everything in perspective.”