The Rare Moments

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.

Working with the rare community is a privilege — being able to connect in-person is even better! I’m very excited to celebrate 10 early-career scientists who are passionate about rare research this Saturday, February 3, 2024, ahead of Rare Disease Day at Uplifting Athletes’ 2024 Young Investigator Draft. This year, Uplifting Athletes will also be celebrating surpassing their first $1 million of grant money funded!

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!