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Dear Friends, As we welcome fall and the final stretch of 2025, I’m reminded of how much we’ve accomplished together—and how much hope and momentum we’re carrying into the future. Whether through research, advocacy, or simply showing up to support one another, your involvement continues to strengthen our shared mission. This week, we’re celebrating DAF Day on Thursday, October 9th—a simple, powerful way to make an impact through your Donor-Advised Fund (DAF). We hope you’ll consider supporting The RYR-1 Foundation as part of your giving plans this season. I want to extend a heartfelt thank you to the incredible speakers and patient – led community members who participated in our 2025 Research Workshop and Family Conference. Your expertise, experiences, and generosity helped make this year’s events the most impactful yet. We’re excited to share that all 24 recorded presentations from the 2025 Family Conference are now available in our Video Gallery. We’re proud to make this valuable resource accessible to the entire community. If you weren’t able to attend the 2025 Family Conference, we’d love to hear from you. Please take a moment to complete our short survey—your feedback helps us shape future events and better serve the community. As we head into the giving season, we invite you to be part of the RYR-1-RD Community Giving initiative. Whether through a Facebook or Instagram fundraiser, an end-of-year gift, or simply spreading the word, there are so many ways to give back and support our mission. Looking to better understand your rights as a rare disease parent or patient? Don’t miss the upcoming free Global Genes webinar, “Knowing the Rights for Your RARE Child (and Yourself!),” on October 16th. We’re proud to share new research: “Exercise Capacity in Individuals with RYR1-Related Myopathies” was recently published in the Orphanet Journal of Rare Diseases. This study provides important insights into endurance and fatigue in our community. Lastly, the NIH Clinical Study on RYR-1-Related Disorders is actively recruiting. If you think you or a loved one might be eligible, we encourage you to learn more and consider participating in this important research effort. As always, thank you for being part of this incredible community. Together, we are creating real change—for today and for the future. Best Wishes, |
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| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
Happening This Week: Join Us for National Donor Advised Funds (DAF) Day!
We are excited to participate in National DAF Day, taking place this Thursday, October 9, 2025! This special day is a nationwide celebration of community giving through Donor Advised Funds (DAFs)—one of the fastest-growing forms of philanthropy in the United States.
With over three million Americans now using DAFs to amplify their charitable impact, this giving tool has become a powerful way to support the causes that matter most—strategically and flexibly.
Whether you already have a DAF or are just learning about how they work, this week is the perfect time to get involved!
Here’s how you can take part:
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Learn more about creating or donating through a DAF at DAFday.com
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Follow The RYR-1 Foundation on social media for updates, tips, and inspiration throughout the week
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Spread the word and encourage others to give in support of RYR-1-RD research and advocacy
Let’s make an impact—together—this DAF Day, October 9th!
For more information contact Lindsay Goldberg.
We would like to extend our deepest thanks to all of the expert speakers and patient – led community members who participated in the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions, as well as The RYR-1 Foundation International Family Conference 2025. Your participation, insights, experiences, and dedication brought meaning and energy to these events.
Throughout the events, our speakers shared their knowledge on a wide range of topics—from the latest research findings and scientific breakthroughs to innovative approaches in treatment and care. In addition to these medical and scientific insights, the Family Conference also featured valuable discussions on practical living, education about the spectrum of RYR-1-RD, and daily living considerations. These presentations sparked meaningful conversations and offered new hope for the future of RYR-1-RD therapies and, ultimately, a cure.
We are incredibly grateful that these leading experts traveled from across the globe to join us in Pittsburgh, Pennsylvania, USA. Their willingness to invest time and energy—despite their demanding schedules—demonstrates their unwavering commitment to the RYR-1-RD community and to advancing science in partnership with patients and families.
The 2025 events were marked by collaboration, discovery, and shared purpose—thanks in large part to the contributions of our speakers and patient-led community members. Your participation not only educated, but also inspired attendees from all walks of life.
Once again, thank you to each and every speaker and patient – led community members who made the effort to be with us. Your support, passion, and expertise were instrumental in making these events a resounding success.
Due to the ongoing U.S. government shutdown, critical telehealth flexibilities for Medicare patients have expired. These provisions allowed millions—especially rare disease patients—to access specialized care remotely. Without action from Congress, patients may now be forced to travel long distances to see knowledgeable providers, causing unnecessary hardship.
In addition, enhanced ACA tax credits (eAPTCs)—which make health insurance more affordable—are set to expire at the end of this year. If not extended, premiums could rise by over 100%, putting essential coverage out of reach for many.
Take action today to urge lawmakers to:
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Permanently extend telehealth flexibilities, and
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Renew ACA tax credits that make healthcare affordable
Coordinated by NORD. Learn more and contact your representatives!
Watch the 2025 Family Conference Lectures – Now Available Online!
We’re excited to announce that all 24 recorded lectures from the 2025 Family Conference are now available in our Video Gallery on The RYR-1 Foundation website!
Hear from top experts on the latest in clinical care, research, and quality of life for RYR-1-Related Diseases (RYR-1-RD).
Featured topics include:
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Clinical Care: Overview of RYR-1-RD, genetics & family planning, ryanodine receptor mechanisms, symptom-specific information and guidance (e.g., rhabdomyolysis, malignant hyperthermia), female health, respiratory care, and physical therapy
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Research: The RYR-1 Foundation-funded projects, gene therapy updates, and patient survey findings
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Expert Panels: Aftereffects of RYR-1-RD, current treatment approaches, and practicality of future treatments and a cure
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Quality of Life: ADA rights, financial & estate planning, and educational support
Don’t miss this opportunity to learn from top experts in the field. Visit our Video Gallery and start watching today!
Video Gallery
The RYR-1 Foundation is seeking feedback from individuals and families who did not attend The RYR-1 Foundation International Family Conference 2025. This anonymous brief survey is designed to help us better understand the reasons behind non-attendance and how we can make future conferences more accessible and engaging.
Your input is invaluable and will directly inform our planning for the next Family Conference.
The survey will remain open through October 31, 2025.
Thank you in advance for your participation!
For more information contact Lena Leghart.
The end of the year is approaching—and that means GivingTuesday is right around the corner!
Mark your calendar for December 2nd, one of the most impactful days of the year to support causes that matter. We hope you’ll be part of this global movement and help drive progress for those affected by RYR-1-related diseases.
Don’t miss our End-of-Year Newsletter, where we’ll celebrate all we’ve accomplished together in 2025 and share what’s ahead in 2026!
Want to Start a Fundraiser? It’s Easier Than You Think!
Thinking of fundraising on Facebook or Instagram (Meta)? Great news—Meta sends all donations directly to The RYR-1 Foundation, ensuring that the funds support our mission.
Need help getting started? Step-by-step instructions are available on our website. It’s a simple, impactful way to contribute!
Looking to do more?
Whether it’s a personal fundraiser, a creative giving idea, or a community event, we’d love to support your efforts. We can even connect you with others in the RYR-1-RD community who’ve hosted successful fundraisers and are happy to share ideas and inspiration.
Get Started with Our Fundraiser Toolkit
Our Fundraiser Toolkit is here to guide you—whether you’re organizing a campaign, hosting an event, or simply spreading the word. Every dollar raised helps fund critical research into potential treatments and provides essential resources for individuals and families living with RYR-1-RD.
Together, we can make a lasting impact.
Thank you for being a part of this incredible community.
Learn More About Supporting Our Cause
Global Genes is a 501(c)(3) nonprofit organization dedicated to eliminating the burdens of rare diseases for patients and families worldwide. Global Genes RARE Advocacy Exchange is a free virtual webinar series designed to empower individuals impacted by rare diseases with the knowledge, skills, and confidence to lead and drive change.
This series is open to patients, caregivers, family members, community leaders, healthcare professionals, and anyone affected by a diagnosis who wants to grow as an advocate. All past webinars are available on-demand, and you can register to attend upcoming sessions live.
Upcoming Webinar: Knowing the Right for Your RARE Child (and Yourself!)
When: October 16, 2025, 12:30 pm – 2pm ET (US)
Join a panel of experts including:
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Benita Talati, attorney and rare disease patient advocate
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Kelley Coleman, rare disease parent and author
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Michele Erwin, President & Founder of All Wheels Up
This session will cover essential topics such as insurance coverage, education laws, and healthcare access. Attendees will gain practical tools to navigate complex systems, advocate effectively for their child, and access tailored support resources.
Submit your questions in advance and be part of the conversation!
For more information about this webinar and the full Rare Advocacy Exchange series, visit Global Genes RARE Advocacy Exchange.
New Study Explores Exercise Capacity in Individuals with RYR1-Related Myopathies
A study titled “Exercise Capacity in Individuals with RYR1-Related Myopathies” was published on September 24, 2025, in the Orphanet Journal of Rare Diseases by researchers Lisa M. K. Chin, Joshua J. Todd, Irene C. Chrismer, Jessica W. Witherspoon, Minal Jain, Melissa Waite, Katherine G. Meilleur, Bart Drinkard, and Tokunbor A. Lawal. The study provides valuable new insights into how RYR1-related myopathies affect physical performance and endurance.
Neuromuscular disorders—caused by pathogenic variations in the ryanodine receptor 1 (RYR1) gene—are the most common form of congenital myopathy. Individuals affected by RYR1-related myopathies often experience skeletal muscle weakness, fatigue, and reduced functional capacity.
The study specifically assessed exercise capacity in both adults and children with RYR1-related myopathies (muscle weakness and low stamina) using cardiopulmonary exercise testing. Key findings include:
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Reduced Exercise Capacity – Individuals with RYR1-related myopathies generally showed lower-than-average ability during exercise testing.
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Stability Over Time – Despite reduced capacity, most participants did not show a decline over a six-month period, suggesting that stamina and strength may remain relatively stable in the short term.
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Six-Minute Walk Test as a Useful Tool – This common test correlated well with overall exercise capacity, making it a helpful and accessible tool for clinicians, physical therapists, and patients to monitor progress and guide activity planning.
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Tailored Exercise Programs Are Important – Exercise should be customized for each person, with a focus on regular, moderate activity. Overexertion or high-intensity training may increase fatigue or pose risks, so balance is key.
“Our research highlights reduced exercise capacity as a critical aspect of RYR1-related myopathies and offers a foundation for more effective exercise approaches to better support affected individuals,” said Lisa M. K. Chin, PhD, Staff Scientist, Rehabilitation Medicine Department, National Institutes of Health.
We’re also proud to share that Minal Jain, PT, DSc, FAPTA, one of the study’s co-authors, is a valued member of The RYR-1 Foundation’s Scientific Advisory Board.
There is still time to participate in the Natural History Study on RYR-1-Related Disorders (RYR-1-RD) being conducted at the National Institutes of Health (NIH). The goal of the study is to better understand the clinical features and progression of RYR-1-Related Disorders (RYR-1-RD) in both children and adults.
Tokunbor A. Lawal, PhD, FNP-BC, an independent research scholar in the Division of Intramural Research at the NIH, is leading the study.
The details are below:
Who Can Participate?
- Individuals 7 years or older
- confirmed genetic diagnosis of RYR-1-RD
- Resides in the United States
Who Is Not Eligible?
- Individuals with other neuromuscular diseases causing muscle weakness
Interested in Participating?
To learn more or to enroll, contact the NIH Office of Patient Recruitment: call (800)411-1222 or email ccopr@nih.gov. Please refer to Research Study #01737-CC.
Participation in the study could help advance research and future treatments for RYR-1-RD!
