H F S D dvocate2020 • Issue 2 Carden Wykcoff FSHD Radio Julie Hershberg Ramp Fitness Taylor Quigg Johanna Hamel Tina Duong Jack Gerblick John Hogan FORWARD TOGETHER The Genetic Finding a pandemic testing for way to keep pivot FSHD working See pages 4–11 See page 12 See page 16 1 Table of Contents PAGE SPECIAL SECTION: FORWARD TOGETHER 6 The pandemic pivot . .4 Adapting nimbly to the new normal . 6 PAGE Resolve in the face of COVID-19 . 8 9 You are the future for FsHD . 9 What a difference two years have made! . 10 Together, we Walk & Roll to Cure FsHD! . 11 FRONTIERS OF MEDICINE special Genetic testing for FsHD — a new frontier . 12 section Telehealth for FsHD . 14 PAGEs PAGE FORWARD Biopharmaceutical industry news: TOGETHER 4-11 Dyne Therapeutics ramps up its FsHD program 16 and Fulcrum adapts to the pandemic . 15 PAGE LIVING WITH FSHD 12 Finding a way to keep working . 16 “eddie-mechanics” was my secret to success . 18 NOTEWORTHY sequester Camp webinars . 20 Fitness with Mitch and Bill . 20 UPCOMING EVENts Webinars, chapter meetings, radio, fundraisers . 21 PAGE 15 BACK PAGE National Virtual Walk & Roll . 22 H F S D PAGE dvocate 18 Our reporting on developments regarding FSHD does not imply that the FSHD Society endorses any of the drugs, procedures, treatments, or products discussed. We urge you to consult your physician about any medical interventions. FSHD Advocate is published by the FSHD Society. This issue is distributed to its members electronically. All material is copyrighted and may not be reproduced without written permission. To be placed on the mailing list, provide feedback, or propose an article for future issues, please write to: June Kinoshita, Editor FSHD Society, 450 Bedford Street, Lexington, MA 02420 USA [email protected] Look for us on the Internet at fshdsociety.org. We thank the FSHD Society staff for their editorial assistance. Copy editor: Elaine Alibrandi Graphic design: Leslie Anne Feagley 2 CEO Letter Forward Together The power of an active community hile catchphrases have proliferated during the You will also see it in our signature Walk W COVID-19 pandemic, they are nonetheless & Roll to Cure FSHD – now a nationwide, a clarion reminder from public officials, medical virtual event on September 12 – as our professionals, and leaders that we are indeed in this community has expanded with more together – and we will get through it together. families joining us in our quest for We have seen the power of community as residents treatments and a cure for FSHD. And the Mark A. Stone in cities large and small join together from balconies, power and potential of our collective force fire escapes, and roadsides to honor front-line workers. is certainly evident in the articles about our response to Expressions of appreciation for delivery personnel and the COVID-19 crisis, and the amazing growth and impact grocery clerks, who have kept our stores stocked and of our national chapter initiative. allowed us the privilege of security, have become regular The strength of our community lies in the commitment features on news outlets. of the individuals within it. We salute those who step The former Secretary of Agriculture Tom Vilsack once forward to become an even bigger part of the solution – said, “People working together in a strong community people like our volunteer chapter directors and individual with a shared goal and a common purpose can make the fundraising leaders, who reached out into their personal impossible possible.” This aptly describes not only our communities to enlarge and empower ours. current situation, but also the power and potential of the We join together from our figurative “balconies, fire FSHD community. escapes, and roadsides” to applaud all of you who work As you read this edition – our first digital-only tirelessly and give generously for the day when the magazine – you will see that, through innovation, impossible becomes possible. resilience, and commitment to our common goal, the Until then – forward together! FSHD Society community is more connected and truly stronger together. Our communal strength is highlighted in Dr. Jeff Mark Stone Statland’s article on the ReSolve study – the largest global President and CEO observational study documenting the effects of FSHD. FSHD Society Editor David Glass, MD, Co-chair, Scientific Scientific Advisory Board FSHD Society June Kinoshita Advisory Board David Glass, MD, Co-chair 450 Bedford Street L. Frank Kolakowski, PhD David E. Housman, PhD, Chair Lexington, MA 02420 USA Copy Editor Stuart Lai Michael R. Altherr, PhD (781) 301-6060 Elaine Alibrandi Linda Laurello-Bambarger Robert H. Brown Jr, MD DPhil [email protected] William R. Lewis III, MD Rune R. Frants, PhD Graphic Design Michelle H. Mackay David J. Glass, MD fshdsociety.org Leslie Anne Feagley Marie Morrell Louis M. Kunkel, PhD George Pollock Jr. William R. Lewis III, MD Board of Directors Thomas Ruekert Katherine D. Mathews, MD James A. Chin Sr., Chair Bruce Ryskamp George W. A. M. Padberg, MD Howard Chabner, Vice-Chair Neil Solomon, MD Kathryn Wagner, MD PhD Ellen K. Hannan, Treasurer Carden Wyckoff Christine Ford, Secretary Mark Stone, President & CEO Amy Z. Bekier Daniel P. Perez, Co-founder, Director Emeritus Jack Gerblick William R. Lewis Sr., MD, Chair Emeritus 3 3 Forward Together The PANdemIC PIVOT BY JUNE KINOSHIta, FSHD SOCIetY hen the world shut down in mid-March to stall the spread of COVID-19, the FSHD Society team not only pivoted, but it embraced the challenges W posed by the crisis by turning this sow’s ear into a silk face mask. As the FSHD Society is a rare-disease organization, many of our stakeholders are accustomed to being socially distanced. The digital highways and byways have been the primary channels where we connect and support one another. Adapting to social distancing through technology was already engrained in the FSHD community. Our nimble FSHD Society team nity. We worked with the CTRN to leaped into action. We developed a develop and distribute a survey on rich online program with research the impact of COVID-19, and hun- updates, mindfulness sessions, dreds of you responded. Amazing! chapter meetings, fitness, and more. Our major conferences this year Many in the community offered – the International Research Con- help and advice, compiled lists of gress, FSHD Connect, and Voice of resources, shared tips and tricks, the Patient Forum – were forced to and reminded us all to attend to our go virtual. Even though we were mental well-being. We called these disappointed at our inability to activities “Sequester Camp,” inject- convene in person, we found a ing a little cheeky fun as our way of silver lining: Anyone with a laptop defying the darkness of the times and affirming the bonds that make us strong and positive. The doctors and researchers of the FSHD Clinical Trial Research Network have begun to offer tele- health consultations while working tirelessly to adapt their ongoing projects and even come up with new studies to understand how this pandemic and the public health policies are affecting our commu- 4 Forward Together sociation, miRecule, PerkinElmer Genomics, Optum Health, and the James Chin Sr. Scholarship Fund made these events possible. We are deeply grateful to them all. Being forced to think out- side the box has pushed us to innovate. We have found new, exciting opportunities that will continue to shape and elevate how the FSHD Society serves the community in years to come. We or smartphone and decent WiFi can’t wait to share them with you. could attend. We reached thou- Through all of this, we have sands of people with each webinar deeply appreciated your support and radio show. Wonderfully, our and encouragement. Amazingly, in meeting sponsors and foundations a season when many donor-sup- stuck by us. Financial support from ported organizations are struggling, the National Institutes of Health, our spring campaign raised more Bionano, Fulcrum, Association than $200,000, a record that testifies Française contre les Myopathies, to your determination and com- Allard, Avidity, Dyne, Genomic mitment not to let anything – not Vision, the University of Nevada FSHD, not COVID-19 – stand in our Reno, Muscular Dystrophy As- way. Together, we will prevail. COVID-19 advisory For most individuals with FsHD, the risk of serious illness from COVID-19 infection is the same as for the general population. The CDC and MDA websites provide detailed information about who is most at risk and how to avoid getting infected. • Older adults (more than 50 years of age), especially those with chronic illnesses such as heart disease, diabetes, compromised immune systems, and lung disease, have the highest risk of serious illness. • If you have FsHD-associated restrictive lung disease, you should consider yourself at higher risk for serious illness regardless of your age and take extra precautions to avoid becoming infected. This applies to anyone who is using nighttime ventilation or is at or below 50 percent of the predicted value for forced vital capacity (FVC), maximal inspiratory pressure, and peak cough flow. • If you get sick, inform your care providers that you have restrictive pulmonary disease and should not receive oxygenation without ventilation (e.g., BiPAP or NVs), as this can cause you to retain carbon dioxide and stop breathing. • Download and carry our Medic Alert Card to warn emergency medical care providers that you have FsHD. 5 Forward Together Adapting nimbly to the new normal BY JAMSHID ARJOmaND, PHD, CHIef SCIENCE OFFIcer, FSHD SOCIetY nprecedented times,” ”social distancing,” ”Zoom Society’s Therapeutic Accelerator program. These plans “U calls,” ”new normal….” These phrases have be- included a series of workshops, academic and industry come all too common in our daily, self-sequestered lives meetings, grants, and international conferences peppered and reflect our inherent abilities to adapt to new condi- throughout the 2020 calendar.