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This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.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!
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
We 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:
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.
I’m amazed with the technologies used to treat patients living with a rare disease, including gene-based therapeutics. These drugs often target the underlying cause of the disease. One example of this is Casgevy, which was approved to treat patients with sickle cell disease in December 2023 and was recently approved for patients with beta-thalassemia in January 2024. I look forward to seeing more of these treatments throughout 2024.
www.fiercepharma.com/pharma/vertex-crispr-win-early-fda-nod-gene-therapy-casgevy-treat-beta-thalassemiaMy son was born with the disease biliary atresia, a serious and life-threatening disease in which babies are born with an abnormal opening in their bile ducts, either outside or inside the liver. BA is rare and only affects 1 out of every 18,000 infants, according to the NIH website. Without treatments, surgery, or transplants, the infants with BA are unlikely to live past the age of 2 years. My son received his life-saving liver transplant as an infant. The follow-up biopsy appointments, regular blood draws, and a scary time post-transplant with elevated EBV, there have been so many ups and downs. A short time ago, we were unsure where his path would lead. We had to do school from home, and his activities were limited. I am happy to share that my son is now in 3rd grade. He is doing well academically, and he’s playing soccer on a club team. He’s living a happy and active life thanks to a care team that included many doctors, nurses, patient advocates, and the pharmaceutical drugs that keep him healthy.
www.linkedin.com/posts/tearomeromba_rarediseaseday2021-biliaryatresia-activity-6771818075999264768-mySk?utm_source=share&utm_medium=member_desktopTéa Romero, MPsy, MBA on LinkedIn: Rare Disease Day: Biliary Atresia
How is your family impacted by Rare Disease? #rarediseaseday2021 #biliaryatresia
www.linkedin.comThe number of rare disease clinical trials increases every year. Not only are these trials getting more and more complex, but the mode of administration is often very challenging. In December 2023, the FDA released its guidance document entitled Rare Diseases: Considerations for the Development of Drugs and Biological Products. The comments from the FDA on the importance of engaging patients, caregivers, and their advocates in the drug development process is something we take very seriously at Worldwide.
www.fda.gov/regulatory-information/search-fda-guidance-documents/rare-diseases-considerations-development-drugs-and-biological-productsGuidance for Industry
Rare Diseases: Considerations for the Development of Drugs and Biological Products
www.fda.govThe increase of newborn genetic screening has led to earlier diagnosis, treatment, and even prevention of disease, as in the case of Spinal Muscular Atrophy (SMA). I am eager to see how earlier diagnosis will transform the landscape of rare disease research and the development of new therapies in the years ahead.
doi.org/10.1038/s41431-022-01259-8We have been working closely with Worldwide on a number of rare indications. They have a very engaging and knowledgeable team!
www.rarediseaseresearch.com/We are so excited to launch Rare Moments, our website dedicated to sharing updates from the rare disease community throughout the week of Rare Disease Day. Please share your memories, notes, events, thoughts, and resources during this week so that we can help elevate each other’s voices. So much happens during Rare Disease Week, so favorite this page and visit often to stay current on all things Rare Disease!