Empowering the Becker Muscular Dystrophy community through education and engagement

By Jill Pease

A first-of-its kind event held in December at the University of Florida and three other sites around the country brought together scientists and people with Becker Muscular Dystrophy to share research updates, discuss clinical topics and provide an opportunity for people impacted by Becker to connect.

For many participants with Becker Muscular Dystrophy, the event was the first time they were able to meet someone else with the disease in person.

“I feel that this event has changed the trajectory of my life in a way,” said Evan Hakamaki who traveled from the Twin Cities in Minnesota to Gainesville to attend. “I didn’t expect that I would make what will likely be lifelong friends. Now I feel I have a support group of people who know me and what I’m going through. This was one of the best weekends in my life that I can remember.”

Attendees listen to a presentation on Becker Muscular Dystrophy research initiatives. “We can’t develop interventions and understand the natural history and progression of this disease without the help of people with Becker,” said Claudia Senesac, Imaging NMD project manager. “They are the most important part of the team.”

Becker Education and Engagement Day was hosted by several U.S. academic and health care institutions, including a UF research team led by Krista Vandenborne, Ph.D., P.T., a distinguished professor and chair of the department of physical therapy at the UF College of Public Health and Health Professions and director of neuromuscular dystrophy research program ImagingNMD. Additional partners included Parent Project Muscular Dystrophy, the Muscular Dystrophy Association and pharmaceutical companies Edgewise Therapeutics and ReveraGen.

“I was delighted to be able to host this event at the University of Florida and to see the positive impact it had on the men with Becker’s and their families,” Vandenborne said. “This is a population that clearly has been underserved and I am excited to see the community come together to create such an empowering network.”

Becker Muscular Dystrophy occurs in about one in 30,000 male births. The disease causes progressive muscle weakness that can affect walking, balance and stamina. Heart muscles are commonly affected and can lead to problems such as congestive heart failure and arrhythmias. People with Becker Muscular Dystrophy may also experience cognitive, breathing and gastrointestinal issues.

Most health care providers will never see a case of Becker Muscular Dystrophy in their lifetimes. Because of this lack of firsthand clinical knowledge, it may take years for someone with the disease to receive a diagnosis. Finding answers to treatment questions can be an ongoing struggle for both patients and their health care providers.

Participants in Becker Education and Engagement Day gathered December 2 at one of four sites — Gainesville, Pittsburgh, Sacramento and Aurora, Colorado — for a mix of in-person and virtual presentations and social time. Presentations by UF scientists included a disease overview by Barry Byrne, M.D., Ph.D., a professor in the College of Medicine and director of the Powell Gene Therapy Center. Vandenborne provided an update on studies conducted by ImagingNMD to better understand disease progression and develop sensitive measures that will help investigators quickly and accurately determine the effects of new drugs tested in clinical trials. Donovan Lott, Ph.D., P.T., and Claudia Senesac, Ph.D. P.T., ImagingNMD team members and faculty in the department of physical therapy, presented recommendations for exercise to maintain muscle health.

The Gainesville site of Becker Education and Engagement Day ended their day with a social event. Participants have requested more time for socializing at future events and a way to connect with participants at the other event sites. “I would love to see us continue to grow this community I have found,” Anthony Navarro said.

“Everybody’s journey with Becker is so different,” said Boston resident Anthony Navarro who attended the Gainesville event. “To have an event where we can get information in one place from the leading experts on Becker was so important.”

Navarro took home several new disease and treatment insights he plans to explore with his primary care physician and specialists.

“We know that this disease is going to progressively get worse until there’s a functional cure,” Navarro said. “I may not be bad now, but will that be the case in five, 10 or 15 years? I’m going to make sure that I’m doing everything I can to be as good as I can for as long as I can.”

Brian Springett of Holland, Michigan, was asked by event organizers to facilitate sessions on living with Becker Muscular Dystrophy and meeting the Becker community’s needs.

“It often feels the Becker community is overlooked and this allowed our community to be informed about the current strides being made with our disease,” he said. “I also truly enjoyed getting to meet and network with various other individuals with Becker MD. This networking allows for us to talk through the various obstacles each of us face and share how we navigate these situations.”

Brian Springett describes his experience participating in the ImagingNMD study at UF.

As scientists and clinicians build a knowledge base and treatment guidelines on Becker Muscular Dystrophy it can be easy to think only in terms of commonalities, Senesac said.

“Having all these men with Becker in one room reminds us that each one of them needs to be looked at as an individual and not as a condition,” Senesac said. “As researchers and providers, we can’t lose sight of the individuality and uniqueness of each of these men.”

Attendees hope Becker Education and Engagement Day is an important first step in connecting people in the Becker community, leading to increased education, research and advocacy efforts. Several men with Becker Muscular Dystrophy who attended the event have established a group chat through the messaging and social platform, Discord, where they share ideas and advice almost daily. Not wanting to wait until the next in-person Becker Education and Engagement Day, some men have already made plans to get together with other attendees across the country.

“My biggest takeaway from this is that I’m not alone,” Hakamaki said. “And the medical community has not forgotten about Becker.”