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!
We work in a way to make the data in clinical trials meaningful to the community. I recently had the honor of hosting a webinar to learn about endpoints that are meaningful to patients and their families living with developmental and epileptic encephalopathies (DEE). Check it out here!
youtu.beI had such a fulfilling experience visiting my members of Congress as part of Rare Disease Week on Capitol Hill. My fellow advocates and I raised our voices to encourage their support of policies that benefit rare disease patients. Hearing everyone’s stories was so inspiring.
www.linkedin.comCanary Advisors® on LinkedIn: #raredc2024 #rarediseaseday
Next up, we'd like to introduce you to Carolina Consuegra, a wonderful advocate and talented medical writer. Science2People #RareDC2024 #RareDiseaseDay.
www.linkedin.comIn 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!
www.youtube.comWhen 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.
Wagr.orgInternational WAGR Syndrome Association
The International WAGR Syndrome Association is a not-for-profit organization comprised of an international network of families, health care professionals and researchers, and others who care for individuals with WAGR syndrome.
Wagr.orgRare 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.
PMSF.orgHome – Phelan-McDermid Syndrome Foundation – The support you need today, the treatments and cures you're counting on tomorrow.
The Phelan-McDermid Syndrome Foundation is making today better and the future brighter for everyone living with this rare genetic condition.
PMSF.org
www.linkedin.comCanary Advisors® on LinkedIn: #raredc2024 #rarediseaseday
For our third introduction of the week, we'd like you to meet Jim Sliney Jr, RMA, BCPA, Chief Patient Officer at Patients Rising and One Rare board member. Jim…
www.linkedin.com
www.linkedin.comCanary Advisors® on LinkedIn: #raredc2024 #rarediseaseday
While there are only a few more days until Rare Disease Week officially kicks off and we pivot to posting live from DC, there's still time for a few more rare…
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