A busy wife, mother, attorney and dog-lover, Cyndy has been living with LGMD2i for over 25 years. In her mid-twenties, she began experiencing difficulties walking upstairs but despite many tests, muscle biopsies and numerous interactions with doctors, it was over 2 decades before she had a definitive diagnosis— “So, for 25 years, I lived without a diagnosis and was slowly progressing. I was having more and more difficulty climbing steps, more difficulty walking distances, 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.”
On her own initiative two years ago, she purchased a 23 and me test kit which indicated that she was a carrier for LGMD2i. This initial result led her to a more thorough and extensive genetic test, and ultimately a definitive diagnosis. What was her reaction at receiving a definitive diagnosis after so many years of not knowing? “It was mixed. 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.”
Cyndy has always been a strong self-advocate. Even before the diagnosis, she took care of herself–she ate well and exercised –and now she has added a daily meditation practice to her self-care routine. “I absolutely feel the benefits of meditation. I feel stronger. I feel my mood changes. I just feel like I can do this. It gives me a sense of purpose and direction and helps me find gratitude.”
Cyndy focuses on being optimistic. She finds inspiration and hope from the research that is underway to find effective treatments for LGMD2i. “To know that people are working on this disease and care enough to make a difference for you means everything. It gives you a reason to be inspired and go on about your life because you know somebody cares enough to do that.”
She encourages everyone living with LGMD2i to seek support from other people who are on their own personal 2i journeys and to become an advocate for themselves and others living with 2i—“Learn as much as you can, do research on your own and assemble your own team of healthcare professionals who are knowledgeable and experienced in limb girdle disease”.