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This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.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!
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.
This 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:
If being a rare disease patient has taught me anything, it’s that you need to be your own advocate.
There’s a common desire among us when facing health challenges to find a doctor who can provide all the answers, allowing us to simply follow their guidance and not worry about the intricacies of our conditions.
However, my own journey has taught me the value of being an active participant in my treatment plan. Had I adopted a passive approach, accepting the first set of answers without question, my story might have ended differently.
This isn’t about placing undue pressure on ourselves to become medical experts or single-handedly revolutionize treatment options.
Rather, it’s about recognizing the power we hold when we engage actively with our care, seeking out specialized centers, connecting with relevant foundations, and exploring all avenues for the best possible care.
I would love to learn in the comments how have you taken an active role in your healthcare journey!
Earlier this week, I watched Brain on Fire on Netflix. This movie details the real-life experience of Susannah Cahalan, a patient with autoimmune encephalitis. Susannah’s accompanying book brings much-needed awareness to this rare disease. If you haven’t watched this movie or read her book, I really encourage it. What a way to kick-start the month of Rare Disease Day!
I am in an extended family caregiver circle for a child recently diagnosed with a rare disease. The journey has been humbling and heartbreaking, and my lens continues to change with the work that needs to be done in this space. It’s not just a day, week, or month to highlight; it’s all day, every day, a constant struggle for families and caregivers every hour, a deeply vulnerable space where they need to have Clinical Research as a care option, no matter where they are in the world.
I know I’m privileged to work in this industry to help make a difference, helping companies navigate the development pathways, communicating with regulatory agencies, working with my colleagues to help incorporate the patient voice, and ensuring the experiences that patients and caregivers have in a clinical trial have them front and center not just data points in studies.
My personal lens serves only to raise the game with what we need to do. I am here to help make treatments for rare diseases less rare. Patients can’t wait.
https://www.efpia.eu/about-medicines/development-of-medicines/intellectual-property/help-us-make-rare-disease-even-rarer/
So excited that the countdown to Rare Disease Day has begun! I’m looking forward to attending Rare Disease Week on Capitol Hill in Washington, DC. This important week connects patients, advocates, caregivers, and community members with members of Congress to enact much-needed change to inform policy that impacts patients and families living with a rare disease. Keep your eyes on this page during that week, as we’ll continue to post updates as they occur.