National LGMD Conference Builds the MD Community

National LGMD Conference Builds the MD Community

This past weekend, I had the opportunity to take part in a very special conference in Chicago. I’d had the honor of seeing this event grow from the idea stage; the first planning meetings were over a year and a half ago. This was a watershed moment, as the limb-girdle muscular dystrophy (LGMD) community has not seen this type of event before. It reminded me of my column on finding your community, because many of us who attended felt a sense of belonging.

The lead organization was The Speak Foundation. Kathryn Bryant, its founder, has a mission to help people who don’t have a voice. Kathryn and other leaders came together to plan this wonderful national event. I was fortunate to be on the periphery and to be a speaker on advocacy and effecting positive change.

The conference was a success by any measure. We brought together more than 400 people from all over the United States and several international sites. There were patients representing many — if not most — of the LGMD subtypes. We also had great clinical leaders, scientists, and researchers from many great institutions around the country, who were able to come together and talk about new research and the latest advances.

I met more than a dozen people with my form of MD, LGMD2L. I knew many of them from the LGMD2L Facebook page, but others told me they had never met another person with their type of muscular dystrophy. We had lots of time between the sessions to talk and get to know each other. We shared creative living skills and learned helpful hints on getting around. This type of sharing is essential for all people with neuromuscular illnesses.

Join the MD forums: an online community especially for patients with Muscular Dystrophy.

Besides this fantastic social opportunity, there was a plethora of presentations that gave us a lot of hope for the future. These are a few of the most important.

The first day of the conference began with an overview of the LGMD groups. We learned about symptoms, genetics, inheritance, and incidence. This session provided a good baseline of knowledge.

Next came the information we were all waiting for. The next two sessions were about drug development and the patient’s role in it. Critical to this discussion was the topic of clinical trials. The prevailing mood in the huge ballroom was one of hope for the possibilities ahead.

We have been hearing a lot about CRISPR and stem cells and gene therapy. The focus here was on gene therapy. We heard about the use of the adenovirus to carry the correct gene sequences to a patient’s body. Studies on several LGMD subtypes have reached the stage of clinical trials. Several others are still in a preclinical stage, where studies are conducted with animals.

The first day ended with with a conversation about opportunities for patient involvement. I spoke during this session about building our advocacy work. We immediately began to add to our database of “volunteer advocates.” Our plans are to have a lobby day and rally in Washington, D.C., in September 2020.

The second day continued with a genetics lesson that focused on understanding mutations. After this session, we heard a heartwarming presentation about spinal muscular atrophy (SMA) success stories. We actually saw children who had overcome their SMA symptoms after receiving gene infusions as babies. The room broke into applause and tears! The final talk was on emerging treatments for LGMDs and a deeper discussion of gene therapy.

The LGMD2L Foundation, which I lead, had a table in the exhibit area. There was a fabulous group of exhibitors, and people learned a lot. I had an opportunity to connect with leaders from many of the LGMD organizations. There were also representatives from major MD foundations and some biotech companies.

The Speak Foundation Facebook page will be sharing videos of many of the plenary sessions. Please check back, as they will add footage weekly.

This event will happen again in two years. We are all eager for more successes in treatments. We are all better for the sense of hopefulness and the chance to connect with our communities.

If you were at the conference, share what you got from the sessions in the comments.

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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.

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10 comments

  1. Bryan Stubenrauch says:

    I not only enjoyed the various breakouts sessions but also the water-cooler time getting to know my now extended LGMD family. For the first time in my life I was able to meet other patients with LGMD; specifically LGMD-2D (Now LGMDR3). We were able to exchange our battle stories like Martin Brody (Roy Scheider), Matt Hooper (Richard Dreyfus), and Quint (Robert Shaw) did in the movie Jaws when they exchanged scary underwater encounters. I think what struck me the most was this underlining theme of optimism, never giving up, and the drive to live life now. During the “Recreation and Travel with LGMD” breakout it was truly inspiring to hear the adventurous stories from Melanie Bordes, Jenna Keindel, Yumi Shim, Jill Wagner, and Josh Thayer. Because of all of you my bucket list just got bigger!

  2. Chuck Cole says:

    Ralph, a great summary of the weekend’s presentations. A huge thank you for all you do for the LGMD community. Are you originally from the Berwyn area?

  3. Sabah Shaffou says:

    Ralph:
    Thank you for your hard work on informing people with rare diseases. Any possible involvement of the Federal Government in funding research .?

    • Ralph Yaniz says:

      Thanks for your comment. Just came from an MDA walk and they stated having put over a billion dollars into research since they started doing this. And I believe they mentioned that only the federal government does as much. There is a lot of research at NIH. Let’s keep hoping for cures.

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