MED13L Foundation

February, 2025 Hello Reader, We’re so excited to invite you to the MED13L Family & Research Meet-up in Waltham, MA, happening July 9th–13th! We are also so excited to announce the meeting is co-hosted with our good friends at CTNNB1 Connect and Cure. Think of it as a mash-up of science, support, and community—where families, researchers, and clinicians come together to learn, connect, and make a difference. Whether you’re sharing stories, swapping ideas, or just soaking it all in, this is one...

October, 2024 Hello Reader, Conferences, Conferences, Conferences! The MED13L Foundation has been busy! From attending Global Genes in Kansas City to presenting our Strategic Research Roadmap in Boston, and now planning the 2024 Virtual Research Meeting and 2025 In-Person Family and Research Meet-Up—there’s so much happening! Read on to learn about the exciting research readiness tools we discovered at these conferences and the opportunities for you to dive deeper into MED13L research and...

September, 2024 Hello Reader, As we welcome September, a month dedicated to Self-Care Awareness, we want to emphasize the importance of taking care of those who care for others. At the MED13L Foundation, we recognize the incredible dedication and resilience of parents and caregivers in our community. This issue is devoted to providing you with valuable resources, such as the Global Genes RARE Concierge Support, our monthly support group, and other tools designed to support your well-being....

August, 2024 Hello Reader, As the summer draws to a close, we prepare for the transition back to school or a return to more structured routines. This time of year can evoke a wide spectrum of emotions for our families, from excitement to anxiety, and everything in between. We stand in solidarity with all our caregivers as we navigate this transition together. We are excited to share the news of the extension of the research grant awarded to Dr. Randy Strich at Rowan University for his work to...

July, 2024 Hello Reader, Last month, the MED13L Foundation's board met and voted to elect Katie Boychuck as Chair. Katie has served as a Board Member and Treasurer for the past two years and has also played many roles within the Foundation, from supporting fundraising efforts to welcoming new members to our community. As Chair, Katie Boychuck's goal is to work every day to move the ball closer to a treatment or a cure for MED13L while providing support to our community. Her favorite part of...

June, 2024 Hello Reader, We sincerely thank all those who participated in World MED13L Day and extended the celebration throughout the entire month of May for MED13L Awareness Month. Our community continues to grow thanks to your awareness campaign contributions, while our research and outreach projects keep expanding due to your fundraising efforts. MED13L Awareness Month was a success because of all of YOU! We are thrilled to report that our preliminary fundraising efforts raised just shy...

World MED13L Month is the perfect time to highlight the importance of the word community. The MED13L Foundation aims to host a Family and Research Meetup in 2025, and we need your support to make it a reality. Our goals hinge on the power of a strong and inclusive community that encompasses not only families affected by MED13L but also those who share our vision. Friends, families, and acquaintances of MED13L families are familiar with their everyday challenges and the urgent need for...

April 2024 Hello Families and Friends, A message from the Founder: Collaboration and networking are vital for the MED13L Foundation's success. Last April, our board members and parents actively participated in the RARE Drug Development Symposium in Philadelphia, engaging in discussions with key stakeholders and hosting a MED13L table. This engagement has fostered a partnership with RARE-X to establish a data collection initiative for MED13L-impacted families. Looking forward, we're excited...

March 2024 Keep Reading to learn about how YOU can make an impact by sharing your journey. Hello Families and Friends, How did you celebrate Rare Disease Day? Board Member Katie Boychuck represented the MED13L Foundation at Rare Disease Week on Capitol Hill, hosted by the Rare Disease Legislative Advocates, to advocate for change and foster connections that benefit rare disease patients for generations. This event educates and empowers advocates from all backgrounds to directly influence...