The Rare Moments

Check out the Minnesota Twins’ Target Field lit up for Rare Disease Day!

In celebration of Rare Disease Day, I am excited to share our most recent draft class from the 2024 Young Investigator Draft! This year we highlighted the significant potential of research in this space when powered by the platform of sports—especially as we surpassed our $1 million in total funding granted. You can watch a recap of the event at the below link!

When my daughter was diagnosed with WAGR syndrome, none of the doctors that were treating my daughter knew anything about WAGR. Since that time, I’ve dedicated my time and energy to advocate for my daughter, spreading awareness of WAGR throughout my local and the international communities.

Rare diseases affect hundreds of millions of people globally, presenting a massive challenge to health equity. Our team is focused on changing that sad reality for patients across many therapeutic areas. From rare cancers such as the one that took my sweet cousin Ryan last year to rare cardiovascular diseases, I’m proud of how hard our teams work every single day to improve the standard of care for rare disease patients. Their passionate and purposeful commitment to saving and improving lives is not just a job; it’s creating meaningful change for our loved ones, their caregivers, and for humanity as a whole.

The Phelan-McDermid Syndrome Foundation is excited to celebrate Rare Disease Day 2024! You can learn more about Phelan-McDermid Syndrome by reviewing our infographic and by visiting our website at pmsf.org.

The Castleman Disease Collaborative Network (CDCN) is a global nonprofit organization dedicated to accelerating research and treatment for this rare and often deadly disease, supporting patients on their journeys, and revolutionizing biomedical research to cure countless other diseases. As we recognize Rare Disease Day on February 29, 2024, we are proud to share with you the story of one of the many thousands of Castleman disease patients who inspire our work every day. Learn more at cdcn.org.

Fall of 2015, I attended my first rare disease advocacy conference. It was Global Genes Patient Advocacy Summit. I was overwhelmed and amazed at how many people were advocating for rare diseases and how many different paths they took. Meeting Bo Bigelow there certainly shaped my path. Although we faced different diagnoses (USP7 for his daughter Tess and Menkes Syndrome for my son Lucas), we had so much in common. Eventually we co-founded The Disorder Channel to stream rare disease films on TV. We collaborated with Global Genes to screen some of these films. And three years ago, I joined the staff at Global Genes to lead an online support community, to encourage others to share their #ZebraTales, to teach them rare disease filmmaking, and to help plan that same conference that started it all for me.