The Rare Moments

The Worldwide Rare Disease team just registered for the Rare Disease Day at NIH 2024 event located at NIH Main Campus on Thursday, Feb. 29, 2024, from 9 a.m. to 5 p.m. EST. I’m personally excited to learn more about what the NIH is thinking about in terms of AI during the session, Artificial Intelligence (AI), and Its Potential Role in Rare Diseases. Register at the link below, and see you there.

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!

Over the weekend, we attended the Uplifting Athletes 2024 Young Investigator Draft. We are proud to sponsor this event. If you were unable to attend the draft, you can watch a recording of the event on YouTube, link below. Congratulations to all the draftees!

Come join us at the Glut 1 Deficiency Summit in June 2024! We are excited about our biennial gathering with all stakeholders in our community. There will be a Scientific Session on Jun 26 -27, a Clinical Session on June 28, and a family session on June 29. Registration is now open!

2024 Glut1 Deficiency Summit

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!

Looking for a good resource for clinical trial advice and guidance? I highly recommend the Reagan Udall Foundation for the FDA.

Just in time for Rare Disease Day: “Qualifying Biomarkers to Support Rare Disease Regulatory Pathways”

Register at the link 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.

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.