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Dear Friends, As we approach Rare Disease Day on February 28th, I want to take a moment to reflect on the incredible strides we’ve made in raising awareness for RYR-1-Related Diseases (RYR-1-RD) and the RYR-1-RD community. This day serves as a reminder of the importance of our shared mission to support those affected by rare diseases and advocate for their needs, especially RYR-1-RD. In this spirit, I’m excited to share some of our upcoming initiatives that continue to empower and connect the RYR-1-RD community:
We are incredibly grateful for your continued support as we push forward in these important endeavors. Your involvement helps bring us closer to our goals of improving lives and finding effective treatments for RYR-1-RD. Thank you for being part of this movement. I look forward to continuing this journey together in Strength In Numbers. Best Wishes, |
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| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
Special Registration Discount, Opportunity to Lead a Panel, and Introduction to A Sponsor’s Family, And More!
In celebration of Rare Disease Day on February 28, 2025, The RYR-1 Foundation is offering a one-week (February 23 – March 1), 15% discount per person for the 2025 Family Conference! The Family Conference will be held on July 24 – July 27, 2025 at the Hyatt Regency Pittsburgh International Airport. To register and take advantage of the special discounted rate go to the registration website.
Register For The Family Conference
In addition, the Family Conference Planning Committee invites RYR-1-RD affected individuals and families to serve as panel leaders and moderators of some of the Family Conference sessions. This is a great opportunity for RYR-1-RD affected individuals and families to get more involved in the event. By sharing experiences around similar challenges panelists and participants can offer valuable solutions, motivate one another, and provide support.
Those interested can nominate themselves or another person by completing a brief online application. Nominees are asked to describe the characteristics of their condition and share topic areas they are interested in discussing as a panel moderator.
The Family Conference Planning Committee looks forward to participation from more families and individuals affected by RYR-1-RD. To learn more information and to apply, view the application.
The Grendahl family—Eric, Karla, and Liam—attended both the 2018 and 2022 Family Conferences and are excited to join us again for this year’s event. We’re also grateful to have G3 Fabrication, Eric’s company, as a Silver Sponsor for the Family Conference this year. “When I saw the opportunity to help sponsor the event this year it wasn’t even a question for me. We are thrilled to be able to contribute to the 2025 Family Conference and grateful for everything the organization is working to accomplish,” he said.
The Grendahls learned about The RYR-1 Foundation after their son Liam, 11 months old at the time, was diagnosed with Malignant Hyperthermia after he had a reaction to anesthesia during surgery.
“In 2018 we made the trip to Pittsburgh, PA and it was a fantastic (also humbling) experience. We met so many amazing people. We left with new friends, great information and amazing hope for what is being done in the hunt for a cure,” Grendahl said.
“We made it a point to attend the Family Conference again in 2022. It was fantastic to see everyone again, make even more new friends and hear the latest on research and studies,” he said. Additionally, the family had the opportunity to meet Angela Gruber, PhD, a speaker at the Conference, who referenced a case with genetic test results from an unnamed patient. The Grendahls quickly realized that the case Dr. Gruber was referring to was Liam’s.
“Families like the Grendahls are the heart of our community, and their support strengthens us in ways words can’t fully capture. We are deeply grateful for their involvement and generosity. Their personal journey with RYR-1-RD, paired with their generosity, inspires us all,” said Executive Director, Patient Liaison, & Co-Founder of the organization, Lindsay Goldberg, BSN, RN. “We’re excited to reunite with them and all of our participants this summer to continue building connections, sharing experiences, and moving closer to a brighter future together.”
To learn more about becoming a sponsor of the Family Conference, view the Family Conference Sponsorship Opportunities.
Family Conference Sponsorship Opportunities
For those interested in volunteering for the Kids Club or in other roles to help make this Family Conference especially meaningful, please reach out to Lena Leghart for more details.
For more information contact Lena Leghart.
For more information about Sponsor Opportunities contact Pat Raffaele.
Join The RYR-1 Foundation and others worldwide in celebrating Rare Disease Day® on February 28, 2025! This global initiative, promoted by the National Organization of Rare Disorders (NORD), raises awareness and support for those on rare medical journeys.
Here are some interesting facts: NORD reports that 1 in 10 Americans live with a rare disease and the mascot for rare diseases is a zebra because of a metaphor used by Theodore Woodward, M.D., “When you hear hoofbeats, think horses, not zebras.” This metaphor emphasizes the need to consider rare conditions when diagnosing diseases and on Rare Disease Day, those with rare diseases “show their stripes.”
NORD provides toolkits, playbooks, and ideas on how to celebrate Rare Disease Day online, in schools, at work, and within communities. Find these resources on NORD’s Rare Disease Day webpage, use the hashtags #ShowYourStripes, #RareDiseaseDay, and tag The RYR-1 Foundation in your social media posts with #StrengthInNumbersRYR1.
Together, let’s spread awareness and show support for Rare Disease Day!
NORD’s Rare Disease Day webpage
Now is a crucial time to advocate for essential funding for RYR-1-Related Diseases (RYR-1-RD) research conducted through the National Institutes of Health (NIH) and also the Department of Defense via the Congressionally Directed Medical Research Programs (CDMRP). With federal budget discussions already underway in the U.S. House and the Senate this is the time to make an impact. The President typically presents their budget by the end of February, and it’s critical that RYR-1-RD receives the attention it deserves.
The RYR-1 Foundation has created resources to help members of the RYR-1-RD community advocate effectively. Visit the organization’s advocacy webpage for:
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A template letter for community members to send to House and Senate members representing their state and geographic area
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Links to find specific House members and Senators, searchable by zip code
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A link to the members of the House and Senate Budget Committees
The RYR-1 Foundation encourages members of the RYR-1-RD community to contact their legislators as soon as possible, as budget discussions are already in progress.
Additionally, The RYR-1 Foundation joined more than 200 organizations, coordinated by the EveryLife Foundation for Rare Diseases, in signing a letter to the new Administration, highlighting policy priorities for rare diseases, which was sent to the acting Secretary of Health & Human Services Dorothy Fink, MD.
Together, Strength In Numbers, can ensure RYR-1-RD research is funded and prioritized!
For questions or more information contact Patricia Raffaele.
Congressional Advocacy for RYR-1-RD
The RYR-1 Foundation is pleased to offer an exciting opportunity for young investigators, students, and trainees to apply to attend the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop).
The Co-Directors invite undergraduate and graduate students, postdoctoral fellows, medical students, residents, clinical fellows, and early-career researchers to apply for this unique event. To apply, please submit your application by March 31, 2025.
We look forward to welcoming the next generation of researchers to this critical event!
Additionally, we are excited to share that the Muscular Dystrophy Association (MDA) has generously awarded an $8,000 grant to support the 2025 Research Workshop.
The RYR-1 Foundation is seeking sponsors for the 2025 Research Workshop. For information about sponsorship opportunities please visit Research Workshop Sponsorship Opportunities.
For more information about sponsorship opportunities contact Patricia Raffaele.
For more information about the Research Workshop contact Lena Leghart.
Application to Attend
Join The RYR-1 Foundation and lead researcher Lizan Stinissen, PhD, candidate under Professor of Neurology at Radboud University Medical Centre, Nicol Voerman, PhD, on March 19, 2025, at 2 pm EST, for an informative session on a clinical trial readiness survey for the RYR-1-Related Diseases (RYR-1-RD) community. The following topics will be discussed:
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Participant experiences in clinical trials in neuromuscular diseases
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Importance of patient participation in clinical research in neuromuscular diseases
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Insights from the 2022 RYR-1-RD community survey conducted during the 2022 Research Workshop
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Discussion of the current survey on RYR-1-RD clinical trial readiness
Registration opens on February 20, 2025. Be sure to watch for an email announcement and updates on social media with all the details!
For more information contact Lena Leghart.
