‘Living, Learning, Thriving’: The Start of Something New
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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.
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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!
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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.
About the Author
Comments
Edward C Bussom
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
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.
Edward C Bussom
Have you seen that a company named Sarepta is actually working on an ANO5 gene therapy[preclinical at this time]. They already have a working therapy for Duchenne's MD. Glimmer of hope on the horizon!
Ralph Yaniz
Yes, very interesting. The next few years will continue to show progress. I have given muscle cells via five biopsies, two regular and three needle, and many types of research will go on!
Richard
Hi Good evening, I was also diagnosed with LGMD 2L a year ago, I am 20 years, I wanted to ask you when they start to appear first symptoms? Are there health risks?
Sorry for my English.
Many thanks in advance.
Ralph Yaniz
Richard, I will also send you an email. Thanks for your comment. Let’s talk more but generally speaking, with 2L there can be great variability. My noticeable symptoms started at age 47. I am now 60. I use a cane and my biggest issues are stairs and chairs. Let’s talk more.
Moath
My boy age 13 he is lgmd2 he cant walk when he 12 years 2018 he is so angry because he cant walk and stay in the wheelchair can you help me .
Ralph Yaniz
I will send you email
MARIA GONZALEZ
My 12 yar old girl was diagnosed this year. She is showing it very mildly. But will like to be notified if anything came on studies or something new that gives us a hope of a tratment. Thanks
Ralph Yaniz
Maria, thank you for your comment and I’ll shoot you an email and see if we can find time to talk.
Roland Borchert
Just happened upon this page today. Now 61 years of age I have experienced gradual muscle loss for many years. First diagnosed as Becker Muscular Dystrophy perhaps 20 plus years ago a recent DNA test confirmed I have 2L MD. I will keenly follow the progress of your website and like all of us living with this condition I look forward to any news regarding the latest discoveries in terms of treatment or better yet a cure (realistically not holding my breath on that but as a neurologist once told me "medical breakthroughs are becoming more realistic than ever before').
As for assisting in any future studies regarding 2L MD please consider my interest high.
Regards,
Roland Borchert
Richmond Hill, Ontario, Canada