Let’s Stay on the Cutting Edge of Research

I can’t believe it’s been 13 years since I started exhibiting muscle loss.

A lot has happened since then. My loss is slow but steady. Even when I plateau, I look back and realize that I’ve weakened over time. But if my column has one overarching theme, it’s that we must continue to live, learn, and thrive.

The progressive nature of limb-girdle muscular dystrophy type 2L (LGMD2L) means I must adapt to my capabilities. Creative living is characterized by constant change. Every day, we learn how to move, how to get our bodies from here to there. We also discover what helps us feel better and what has an adverse effect. We find ways to do what’s necessary, even as we lose muscle mass. Creative living is important to me because it keeps me mobile and participating in life.

Of equal importance is the work that many of us are doing to find treatments and cures. I have talked to many of my readers by phone or on social media. I am amazed at how many people are involved in clinical trials and experimental research. Some of you are waiting for a breakthrough in gene therapy. You are ready to jump into research and contribute to what might be a life-changing intervention.

Therapies are important. I hope that one day they become a reality. However, small contributions can also have a positive impact. They may be less significant than gene therapy, but that doesn’t negate their positive outcomes. Small contributions can also lead to knowledge that might expedite research.

We must stay on the cutting edge by being proactive. All the researchers I’ve reached out to responded positively to my interest. They need our help. Without patients, tools they need are unavailable.

I had a muscle biopsy early in my diagnosis process. Little did I know that at the time, LGMD2L was impossible to diagnose. In fact, in 2006, LGMD2L hadn’t been discovered yet. We didn’t have a diagnosis until 2010, but after that, all of my biopsies were donated to research.

One of the recipients used my biopsy to learn about genetic mutation in LGMD2L. The university’s work over the past two years has culminated in a family study. My mother and my six siblings have donated blood, and we may seek additional muscle samples.

A Belgian study I am participating in also is interesting. I donated three muscle samples via needle biopsy. Each sample was taken from a different muscle at a different level of atrophy. I will be returning to Belgium next March for a second round of testing and full-body MRIs.

Next month, I will start a study on the efficacy of prednisone in strengthening muscles. I am willing to participate in a study like this if it means slowing down muscular atrophy. I have thoroughly researched prednisone and believe I am going into the study with my eyes open.

We need to build registries for all types of muscular dystrophy. I started the LGMD2L Foundation primarily for that reason. We have registered more than 80 individuals in a little over a year. I hope patients can find the appropriate registry and add their information.

We are living, learning, thriving. And we are making a difference. Few things in life matter as much as helping to find solutions for future generations. I am impressed with how many of you are involved in cutting-edge research and would love to hear about your experiences.

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Note: Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to muscular dystrophy.