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!
One of the families in our community had an event annually for 10 years that was a 3 day hangout session on a farm for FA families. People camped out, and there were all kinds of activities, such as swimming, fishing, yoga, tie-dying, crafts, fireworks, and all-you-can-eat ice cream. At this event, people with Friedreich’s ataxia (FA) never felt out of place, and we were all able to be together without the awkwardness that can be present around people who might not understand the experience of FA.
My Rare Moment is anytime I get to be with my people.
curefa.orgFARA – Friedreich's Ataxia Research Alliance
The Friedreich’s Ataxia Research Alliance (FARA) funds and facilitates research to slow, stop, reverse, and cure Friedreich’s ataxia. FARA is a key resource for both FA families and researchers.
curefa.orgI have seen so many families without hope losing children (young and adults) to rare diseases despite the investment of time/money, and emotions. One of the most fulfilling days for me was when one such family was able to watch their child markedly improve about 8 months after treatment!
Hear from Nathan Chadwick, Senior Director and Therapeutic Strategy Lead for Rare Disease.
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.
We are proud to support and bring awareness to Triple Negative Breast Cancer Day which was yesterday, March 3rd. Individuals in the United States have a 1 in 8 chance of developing breast cancer and TNBC accounts for 10-25% of those breast cancers. Me and many others at Worldwide are excited to take part in the many events occurring throughout March that bring awareness to this disease. Please join us at any of the highlighted events listed below.
tnbcfoundation.orgIn 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.comJim Geraghty said it best today at the 9th Annual Rare Disease Day Event at the Broad Institute. “It’s a marathon, not a sprint,” when it comes to rare disease research. Always a science-focused and inspiring event at the Broad!
Connecting, Collaborating, Communicating, Challenges: Sharing experiences navigating family conversations in an n-of-1 investigational treatment setting. Learn more, below!
www.n1collaborative.orgConnecting, Collaborating, Communicating, Challenges: Sharing experiences navigating family conversations in an n-of-1 investigational treatment setting
Monday, March 4, 2024 12:30 pm US ESTFrom an initial email request or conversation at a meeting… to (for some) the possibility of additional assessments… to (for a few) the potential or actual delivery of an n-of-1 treatment to an individual, researchers and clinicians are in contact with patients, families, and caretakers throughout this process. These contact points are crucial for evolving treatment development, but also present challenges on each side. For this webinar, we invite you to join
www.n1collaborative.orgHappening now through 25 Feb – VCP International Conference!! Check out the abstracts from the many researchers who are participating in this meeting. By bridging the gaps between various disciplines, from oncology to neurodegeneration, the Cure VCP conference will drive innovation and coordination in research, accelerating our progress to find a cure for valosin-containing protein (VCP) associate multisystem proteinopathy (MSP).
www.curevcp.org2024 Poster Session – Cure VCP Disease
www.curevcp.orgFall 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.orgWorld Rare Disease Day
World Rare Disease Day is an annual observance to raise awareness for the 400 million people affected by rare disease globally.
globalgenes.org