May 2024 Newsletter
May 6, 2024
May 2024 Newsletter

Dear Friends,

As the newly appointed Executive Director, and on behalf of our team, I want to express my deep gratitude for your support, interest, and engagement with The RYR-1 Foundation! I am also beyond excited to introduce you to The RYR-1 Foundation’s monthly newsletter!

Our organization has experienced recent growth and momentum, and we want to share our news with you on an ongoing basis! The newsletter will feature the latest news related to the organization, provide information on resources available for affected individuals and families, announcements, and updates on our research grants. In addition, we will recognize those engaged with us including families, researchers, collaborative partners, healthcare providers, and others!

This month’s newsletter features several items including organizational news, a new round of research grants and an exciting announcement of The RYR-1 Foundation International Family Conference!

We are looking forward to hearing from you as we continue to develop our newsletter, and in the meantime, thank you again for engaging with us as our international community continues to work together on finding a treatment or cure for RYR-1-related diseases.


Lindsay Goldberg, BSN, RN

Executive Director

The RYR-1 Foundation

Patricia (Pat) Raffaele, M.A., CAE, joined the organization in February 2024 as the Development, Public Relations, & Research Director. In her role she focuses on development to support the mission of the organization; communications to “tell the story” of The RYR-1 Foundation and those it serves; and manages the research grant program. Pat is excited to support the organization’s work with researchers throughout the world; families and individuals affected by RYR-1-related diseases; and the medical community.

Lena Leghart, BSW, now serves as the Program Manager & Administrator. Prior to her new position, Lena was the Administrative Assistant for the organization. In her new role, she manages programs related to patient outreach, including Family Conferences, webinars, and the Clinical Care Guidelines, among others. In addition, she coordinates daily operations, including managing the organization’s website and social media.

Plans are underway for The RYR-1 Foundation International Family Conference! Affected individuals and their families are encouraged to attend the next Family Conference, which will be held from July 24 through July 27, 2025 in Pittsburgh, PA, USA. The Family Conferences are unique opportunities for affected individuals and families to meet, form friendships, develop a true RYR-1-Related Diseases (RYR-1-RD) community, learn more about RYR-1-RD, and meet and interact with RYR-1-RD world experts.

The 2025 Family Conference will take place at the Hyatt Regency Pittsburgh International Airport. More details will be available in the near future. If interested in volunteering during the Family Conference, email Lena Leghart.


The RYR-1 Foundation recently opened a new round of research grant awards to be awarded in early 2025. The almost $500,000 in research grant funding will be distributed to individual investigators in specific research priorities within RYR-1-Related Diseases (RYR-1-RD). Letters of Intent are due May 18, 2024.

“These research grants are designed for concentrated research in areas that will have the greatest potential to move towards treatments and cures for RYR-1-RD,” said Board President Michael Goldberg, MD, MPH. “As someone who is affected by an RYR-1-RD, I also understand first – hand the importance of building a community of similarly – affected individuals and families, and the importance of funding research.”

For more information about prior and currently funded research grant awards and the LOI, please click below. To submit an LOI visit ProposalCentral. For questions, please contact Patricia (Pat) Raffaele.

Cody Hodgson, who was forced to retire from the National Hockey League (NHL) due to Malignant Hyperthermia (MH) caused by an RYR1 mutation, was featured in the national media for his recent comeback to the American Hockey League (AHL).

After his diagnosis, he connected with The RYR-1 Foundation and now serves on the Board of Advisors. His comeback to the AHL drew national media attention. He was featured in an Associated Press article written by reporter Steve Megargee, who also spoke with Mike Goldberg, Lindsay Goldberg, and Pat Raffaele for the article.

The article describes Hodgson’s diagnosis, treatment, and how his treatment led to his comeback. The article appeared in several media outlets including The Athletic, The Washington Post, Sportsnet, and The Hockey News.

Hodgson has become a spokesman for The RYR-1 Foundation and is committed to raising awareness of those affected by RYR-1-related diseases. Not only is Cody committed to raising awareness, he also volunteers as a support for those affected by RYR1 mutations that present similarly to himself.

A special thank you from The RYR-1 Foundation to Brentney Simon and Ashlynn Stafford for hosting fundraisers for the organization earlier this year.

Board of Advisor member Brentney Simon raised money in honor of her milestone birthday and Rare Disease Day. Ashlynn Stafford sold cookies she baked and decorated to raise money for The RYR-1 Foundation.

“On behalf of The RYR-1 Foundation, we deeply appreciate Brentney and Ashlynn’s hard work to successfully raise money for our organization as well as bringing awareness to RYR-1-Related Diseases (RYR-1-RD) and The RYR-1 Foundation. Ultimately, these efforts will help make a difference in the RYR-1-RD community,” said Executive Director Lindsay Goldberg.

To learn more about hosting a fundraiser, visit Host A Fundraiser. A comprehensive Fundraising Toolkit was designed to help third-party fundraisers effectively raise money and awareness for The RYR-1 Foundation.

The RYR-1 Foundation published the Clinical Care Guidelines: What Patients & Families Need to Know About RYR-1-Related Diseases (CCG). These guidelines are written in non-technical, easily understood language to empower patients and families affected by RYR-1-Related Diseases (RYR-1-RD) with the intention to increase knowledge of the diseases, improve medical management, and increase quality of life. Copies of the CCG are freely available and easily downloadable in the following languages: Arabic, Chinese (Simplified), English, French, German, Portuguese, Russian, Spanish, and Vietnamese.

There is also a brief video near the bottom of the web page that introduces the CCG and explains some of its unique features. The CCG covers a wide-range of topics including signs and symptoms of RYR-1-RD, genetics, clinical features, considerations for school, physical activity, physical therapy, and other topics.

The CCG was made possible by a generous grant from The Oscar and Elsa Mayer Family Foundation.


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