The Rare Moments
You know those rare moments that give you goosebumps? The ones that provide a new perspective, connect two ideas in a way you’ve never considered before, or just really hit home?
For Rare Disease Day this February, you’ll find a curation of those moments here — The Rare Moments. Patients, families, researchers, and people working to advance rare disease treatments will be using this space to pass on their goosebump moments. From past moments, to the significant highlights of the 2024 Rare Disease Week and Rare Disease Day, and even hopes for the future, here you will find diverse and valuable insights that matter to our community and expand our reader’s understanding of what it means to live with and work with rare diseases.
Be sure to check back regularly throughout the month to catch the latest posts and submit your Rare Moment for consideration!
See what’s been shared
That’s a wrap for now!
This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.
Resources
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.com/posts/canaryadvisorsllc_raredc2024-rarediseaseday-activity-7165679368831275008-NDiu?utm_source=share&utm_medium=member_desktopCanary Advisors® on LinkedIn: #raredc2024 #rarediseaseday
We first engaged with Amy Skiba, Executive Director of the Lung Transplant Foundation, to deliver on the organization's externally-led patient focused drugâ¦
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?
Keto Care Project | Glut1 Deficiency Foundation
about Glut1 Deficiency is a rare, metabolic condition where glucose transport into the brain is impaired, causing a wide range of neurological symptoms. Ketogenic diets are the current standard of…
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.org/world-rare-disease-day/I’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!
Bright Horizons Project | Glut1 Deficiency Foundation
about Glut1 Deficiency is a rare, metabolic condition where glucose transport into the brain is impaired, causing a wide range of neurological symptoms and social challenges. The goal of the…
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:
The International Autoimmune Encephalitis Society (IAES) is the only family/patient-centered organization for people with a diagnosis of Autoimmune Encephalitis. The services we provide are all-inclusive, from getting a diagnosis to recovery and the many challenges experienced on that journey. IAES provides science-based information backed by trusted medical experts in the field of autoimmune neurology and relies on the expertise of our Medical Advisory Board. We are an established non-profit organization with a history of supporting Autoimmune Encephalitis Warriors (patients, caregivers, and families) through their journey from diagnosis to recovery.
International Autoimmune Encephalitis Society
Our mission at Every Cure is personal.
This was David Fajgenbaum and I ten years ago at the NIH advocating for rare disease patients.
David was just months out of the hospital on a drug that wasn’t intended for his disease.
Fast-forward 10 years later, we launched Every Cure to offer repurposed treatments to patients who have otherwise run out of hope.
We’re incredibly encouraged by the progress we’ve achieved with limited resources, and we’re even more excited about the potential future impact as we integrate more data, optimize AI algorithms, and investigate our most promising leads.
We are taking on the responsibility of ensuring that every drug is used to treat every disease it possibly can.
It’s a huge responsibility but its desperately needed and we are well positioned to do it.
Go to EveryCure.org to learn more about how you can get involved!
EveryCure.orgWe have been able to push forward 30 years of work on galactosialidosis disorder one step closer to clinical trial after submitting a pre-IND to FDA in 2024!
Check out our website, below: