2024 Mid-Year Review

Dear Friends,

As The RYR-1 Foundation celebrates its 10 year anniversary, we want to illustrate what our organization and the RYR-1-Related Disease (RYR-1-RD) community means to affected individuals and families through the experiences of Adam and Courtney Woomer, whose daughter Maisie was diagnosed with an RYR-1-RD after she was born.

We share this update with the hope that our collective activities will lead to a treatment or cure for RYR-1-RD and provide support to affected individuals and families, like Maisie and the Woomer Family. With input and support from the entire RYR-1-RD community, we are able to better serve them and others. Of course, none of our accomplishments would be possible without the support of our growing RYR-1-RD community and donors!

Courtney Woomer recalls how the day after Maisie was born, she was transported to the University of Kentucky Children’s Hospital and admitted to the Neonatal Intensive Care Unit (NICU). After several inconclusive tests, at 8 weeks old, Maisie underwent full genetic testing which revealed two inherited mutations in the RYR1 gene, one from Courtney and one from Adam.

“To be honest, I was selfishly relieved when we received her diagnosis because, as her mother, I felt so much responsibility.” Courtney said. “Quickly, the relief turned to despair. I’m a worrier by nature, and those first few months of navigating the unknown were absolutely gut wrenching. However, during this time, we found The RYR-1 Foundation.”

She continued, “Those affected by RYR-1-RD are immediately disadvantaged due to the rarity of the disease. But thanks to the advocacy, persistence, and passion of Dr. Goldberg and his team of dedicated advisors, I’m optimistic that we are getting close to a treatment and, one day, a cure.”

In describing Maisie, Courtney said, “She is adored by her family and quite literally smothered in love by her big sisters. Simply put: she is special. She is my hero.”

It is with Courtney Woomer, her family, and especially her “hero” Maisie in mind, that we are grateful for the many affected individuals and families who are part of our expanding community, which in turn has led to the growth of our organization.

• The Board of Directors appointed Co-Founder Lindsay Goldberg, BSN, RN as Executive Director & Patient Liaison. In her new role, Lindsay is focused on expanding patient outreach and advocacy and to continue new research in RYR-1-RD.

• Started planning The RYR-1 Foundation International Family Conference 2025 and the RYR-1-RD Patient-Led International Research Workshop. The fourth Family Conference will take place July 24 – 27, 2025 in Pittsburgh, PA! We are excited to have the RYR-1-RD family reunite to learn more about RYR-1-RD and to meet with experts. The second Research Workshop will be held immediately preceding the Family Conference.

• Opened a new round of Individual Investigator Research Awards totaling almost $500,000. Researchers from around the world submitted 23 letters of intents, and 20 investigators were invited to submit full grant applications. This round of research grants will focus on: novel therapeutic approaches to RYR-1-RD; cell and molecular mechanisms of RYR-1-RD and other muscle diseases; and regenerative medicine.

• Expanded patient outreach programming by hosting regular webinars. The topic of this year’s first webinar was the Rycal Clinical Trial that was held at the National Institutes of Health (NIH). The webinar was a great success with more than 150 registrants! Additional webinars will be coming in the near future. The webinars can be watched in our video gallery.

Despite our significant progress so far this year, our work is a long way from being complete. We are hopeful that we can continue to support the Woomer family and more heros like Maisie.

Once again, thank you for being part of our RYR-1-RD community. For any questions, suggestions, or concerns, please contact me via email.

Best Wishes,

Lindsay Goldberg, BSN, RN
Executive Director & Patient Liaison
The RYR-1 Foundation