The Rare Moments

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This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.

Updated 4 months ago
Trinity Life Sciences Trinity Life Sciences Trinity Life Sciences

Read our latest blog post to learn about the cell and gene therapy trends Trinity Life Sciences is watching for 2024!

John Morris John Morris International WAGR Syndrome Association

When 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.org
Katherine StilI Katherine StilI Phelan-McDermid Syndrome Foundation

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.

Infographic

PMSF.org
Sandra Ojeda Sandra Ojeda Glut1 Deficiency Foundation

We 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
Amy Raymond Admin Amy Raymond Worldwide Clinical Trials

The 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!

Peter Benton Admin Peter Benton Worldwide Clinical Trials

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.

Sandra Ojeda Sandra Ojeda Glut1 Deficiency Foundation

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
International Autoimmune Encephalitis Society International Autoimmune Encephalitis Society International Autoimmune Encephalitis Society

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

Sandra Ojeda Sandra Ojeda Glut1 Deficiency Foundation

We are happy to share the resources we have put together for our research community. One of the most important resources we have available is the Research Compass, which is our research guide based on our patients’ and parents’ priorities. Take a look!

Research Compass
Aman Khera Admin Aman Khera Worldwide Clinical Trials

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/

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