The Rare Moments

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!

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:

Homepage

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!

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

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.

My 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.