The Rare Moments
Every color tells a story, and we want to hear yours — the stories that offer fresh perspectives, inspire hope in the community, connect unexpected ideas, or simply resonate with you on a personal level.
For Rare Disease Day this February, you’ll find a curation of those stories here — The Rare Moments. Patients, families, researchers, and those dedicated to advancing rare disease treatments will be using this space to share their rare stories. From past experiences with lysosomal diseases to significant highlights of the 2025 Rare Disease Day, and even hopes for the future, you will find diverse and valuable insights that matter to our community and expand our understanding of what it means to live with and work with rare diseases.
Be sure to check back regularly throughout the month for the latest posts, and don’t forget to submit your colorful Rare Moments!
See what’s been shared
Resources
Amplifying Patient Voices to Understand & Better Serve the MPS Community
Infographic
Incorporating the Patient’s Voice
White Paper
How To Build Mutually Beneficial Relationships with Advocacy Groups
Insights
How Worldwide and Every Cure Are Using AI To Unlock New Rare Disease Treatments
Insights
Meet Your Rare Disease Team
Fact Sheet
Rare Disease Day
rarediseaseday.org
Glut1 Deficiency Foundation | Research Compass
g1dfoundation.org
Workshop: Qualifying Biomarkers to Support Rare Disease Regulatory Pathways
reaganudall.org
Galactosialidosis Network
galactosialidosis.org
Every Cure
everycure.org
Uplifting Athletes
upliftingathletes.org
We live for the rare moments.
Thank you for sharing and reading this curation from our rare disease community!
www.linkedin.comThe 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.
www.youtube.com
www.linkedin.comWe are excited to share our Keto Care Project! Ketogenic diets are the current standard of care for Glut1 deficiency. Not all patients have access to ketogenic clinical or high-quality ketogenic diet support. The Keto Care Project aims to provide expert ketogenic dietician care to underserved patients and families. Would this be a useful service to your community?
www.g1dfoundation.orgThe Orphan Drug Act (ODA) of 1983 made the development of desperately needed new treatments for rare disease patient communities a possibility in ways it truly had not been before. Over the 40 years of the ODA, 6,340 orphan drug designations were granted, representing drug development for 1,079 rare diseases. Additionally, 882 of those designations resulted in at least one FDA approval for use in 392 rare diseases. While having an approved treatment option for 5% of rare disease communities is progress, we’ve seen time and again how partnering with patient communities increases efficiency. Let’s all do more of that!
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.
globalgenes.orgI’ve worked in this industry approaching 25 years. When I first started, most clinical trials focused on treating disease symptoms so patients could feel better and live fuller lives. Today, though, we’re treating the underlying pathophysiology of diseases, and we’ve only just begun to do amazing science. I’m proud of the work our global teams are doing in Precision Medicine and Personalized Medicines, hopefully leading to a brighter future for rare disease patients everywhere.
Check out our Bright Horizons Project! The goal of this project is to provide individualized behavior support services to help navigate the unique social challenges of this disease, foster independence skills, and help build a brighter future for all who live with Glut1 deficiency. Check it out here!
www.g1dfoundation.orgThis year for Rare Disease Day the Tatton Brown Rahman Syndrome (TBRS) Community is celebrating our many accomplishments from 2023! We are building on that momentum in 2024 with additional research into TBRS biomarkers and continuing to enroll samples into our TBRS biobank. Read more and celebrate with us here:
tbrsyndrome.orgNick Allegretti won his 3rd Super Bowl ring this past weekend as a member of the Kansas City Chiefs! Nick is an advocate for the rare disease community through his work with Uplifting Athletes, where he is currently an active Board Member.