‘Living, Learning, Thriving’: The Start of Something New

‘Living, Learning, Thriving’: The Start of Something New

Welcome to my first column at Muscular Dystrophy News Today.

Let me tell you a little about myself. I turned 60 in January and have been dealing with muscle loss symptoms since I was 47. When I first noticed the symptoms, my form of muscular dystrophy had not yet been discovered. I have limb-girdle muscular dystrophy 2L (LGMD2L), also know as ANO5 or anoctaminopathy. This name comes from the anoctamin-5 protein that my body fails to fully produce. 

Last year, I started the LGMD2L Foundation, and we have just achieved 501(c)(3) status with the IRS. The organization’s main goal is to complete a registry that feeds a database of individuals with LGMD2L. We also provide information and education to people dealing with LGMD2L and other muscular dystrophies.

The registry is so important for many of the rare illnesses we focus on. Treatments and cures seem closer than ever, and we need to be prepared for the potential of clinical trials. Because so few of us have these rare illnesses, it isn’t always easy to find a large number of others who share our issues. The registry is building and the foundation is planning our next steps.

The only other piece I’ll add in terms of my background is that I have spent my career working in nonprofits, primarily on mental health, aging, and disability issues. My future columns will touch on all of these subjects as they relate to muscular dystrophy. And while I will write about muscular dystrophy, I will also focus on general “living with disability” issues, such as advocacy, accessibility, mobility, health, positive mental focus, and a variety of others.

Join our MD forums: an online community especially for patients with Muscular Atrophy.

In the coming weeks and months, I will venture into topic areas that are important to many of us. These topics will resonate with those who live with muscular dystrophy and other disabilities.

I look forward to having a great conversation with you as the reader. We all have different perspectives and backgrounds, and we all react differently to treatments and interventions. This happens even when dealing with the same diagnosis. We are unique in so many ways, and we can all learn from each other. I value your input and reactions to my columns.

The idea of “starting something new” is important. Life is abundant in rich possibilities. I’ve learned to be creative with the muscle loss I’m experiencing, and I look to new opportunities and adventures. I realize adventuring may not be as easy as it was for me years ago, but I truly believe that for all of us, new journeys are possible. That will play theme to much of my writing. (I’d love to hear about your adventures in the comments section below my column!)

I am also interested in what interests you. Please reach out to me to share topics you’d like to read about. While I may not be able to cover every topic, your feedback will provide insights into our community needs. Remember, despite our uniqueness, if you seek help or information for a particular situation, others probably are dealing with the same issues.

I look forward to this adventure and interacting with you. In fact, the entire Muscular Dystrophy News Today site has so much to offer. I hope you will read the news and all the columns, and get involved in great conversations in the forums.

Until next time!

***

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.

2 comments

  1. Edward C Bussom says:

    Just got diagnosed with LGMD2L a month ago. Took the Doctors 18 years of poking, testing and biopsies to finally get here. I do not blame them for not figuring it out right away. It just feels like actually knowing what it is has added a finality to the problem[no treatment, no cure]. Before knowing, there seemed to be a greater chance for “something” that could be done. Hoping your group can make some progress. I can donate my cells, too, if that would help. [Or case study]
    Thanks

    • Ralph Yaniz says:

      Edward, thanks for your comments and I understand the both positive and negative feelings that come with getting a diagnosis. Especially because you are willing to donate cells, you should definitely go the the LGMD2L Foundation and add your name to the registry. The 2L mutation was discovered only nine years ago and I am sure there are many people still undiagnosed. I will reach out to you and maybe we can talk more. I would love to hear from others on their journey.

Leave a Comment

Your email address will not be published. Required fields are marked *