National Organization for Rare Disorders

For #FlashbackFriday, I'm remembering the "radical joy" I witnessed over and over during the #NordSummit this week. I saw dozens of hugs during the National Organization for Rare Disorders Breakthrough Summit. Watching the intense networking conversations, the devoted attention given to loved ones living with rare disease, and the vivid, heartfelt revelations shared onstage was incredibly inspiring. It reminded me that there is tremendous power in claiming laughter, hope and the ability to feel joy even when facing difficult challenges. And I couldn’t resist snagging a selfie with the NORD mascot, Mr. "Show Your Stripes." The Zebra is the symbol chosen by the rare disease community based on the old medical school advice, “When you hear hoofbeats, think horses, not zebras." In other words, clinicians were told to look for the most common diagnoses. Today, medical professionals now know that zebras (rare diseases) do exist, and it's crucial to identify them. I will carry the optimism, collaboration and focused commitment that flowed from the NORD Summit into next month's National Press Foundation Rare Disease Reporting Fellowship for international journalists. In fact, there might even be enough radical joy left over to last until next year's meeting.

It was a treat to be at the #NORDsummit this week to host a panel on federal and state policy with Carolyn Sheridan, MPH Leigh Ann Fairley and Jackie Weinrich, MPH I’m honored and humbled to be working with the National Organization for Rare Disorders and rare disease warriors like Senator Amy Klobuchar, Senator Susan Collins Pamela Gavin, and Cheryl Herbert to ensure that every kid has access to lifesaving innovative therapies. Congress needs to get back to DC now to reauthorize the FDA priority review voucher program by passing #HR1262 the Give Kids a Chance Act of 2025 and reauthorize or restore the HHS advisory committee on newborn screening. It saves lives!

For #WednesdayWisdom, stay open to possibility that artificial intelligence can be a force for good. The headlines can be scary, but by the end of the National Organization for Rare Disorders Breakthrough Summit, I gained a new perspective. Two conversations yesterday yielded a big breakthrough for me. During a networking lunch, Vik Sharma saw my press badge and shared information about MiraKare, the health tech startup he named after his daughter. Mira was born with cerebral palsy, and Sharma and his wife have focused on caregiving for the past 23 years. MiraKare is dedicated to improving the lives of caregivers and recipients through the use of AI wearables that gather and analyze data. The goal is to identify crucial information that can help caregivers identify problems and note progress. Next, a session about the use of AI in the rare disease research realm was absolutely fascinating. Panelist Jian Wang, VP and Head of Digital Innovation with IQVIA, offered a simple yet elegant analogy. Research and development in the rare disease space can be challenging because though the conditions are relatively few, the costs of identifying solutions are often prohibitive. Mining the data through the use of AI, which can find connections and redirect existing data toward new purposes, can potentially yield new therapies. It's just one of the topics journalists will explore during next month's National Press Foundation Rare Disease Reporting fellowship for international journalists. Grateful to NORD for once again hosting this incredible learning and networking opportunity. #NORDSummit

This year’s NORD Summit was a success! Put on by National Organization for Rare Disorders, this conference provides a space for patients, caregivers, providers, researchers, and advocates to come together to advance the care for those affected by rare diseases. I’m grateful to the organization for accepting my abstract in which I was able to share the outcomes of a patient with Kleine-Levin Syndrome, an extremely rare neurological condition. While my study is an N of 1, especially in the rare disease community, every patient and their response to treatment matter! My study is the first case study (in this condition) to report the outcomes of IV treatment in a longitudinal manner. It is being submitted and should be published in the near future! Not only was this an opportunity to share my latest research activity, but I’m so glad to have met some amazing people! Till next time NORD! National Organization for Rare Disorders Brooke Friedman Edward Neilan, MD, PhD Advait Wattal Geneva Eisel Himanshu Kaushik Kevin Chandra Cara Weaver Samantha McStocker AHN Allegheny General Hospital Schmidt College of Medicine at Florida Atlantic University Alabama College of Osteopathic Medicine #nord #nordsummit #raredisease

The last few days at National Organization for Rare Disorders’ Breakthrough Summit have been nothing short of inspirational. I am consistently in awe of the dedication, bravery, and commitment this community has to bettering the future for those impacted by rare diseases. There are so many opportunities for research, development, and innovation that could change and save lives, but this potential needs to be nourished and supported. To do so, it is essential for Congress to pass legislation to reauthorize the Priority Review Voucher (PRV) program (Give Kids a Chance Act). This policy would restore a program that incentivizes companies to develop treatments and cures for rare diseases, which would promote research and innovation that otherwise might not be possible. This is a bipartisan initiative that presents no cost to taxpayers, and it was incredible to hear Sen. Amy Klobuchar talk about the importance of this program. And last but not least: It was such a joy to attend with my longtime friend, Brittany Argote! From college roommates and close friends to now colleagues working towards a more accessible future for patients, I always love the opportunity for our professional paths to cross. Global Liver Institute #RareDisease #HealthPolicy #Advocacy #LiverHealth #PRV

It had been such a special few days having so many amazing #RareDisease advocates gathered here in DC! The wall really is right, “alone we are rare, together we are strong”. I am feeling so much hope knowing that there are so many passionate people working hard for patients across the country. Today’s highlight: a surprise address from Senator Amy Klobuchar! The rare disease community is truly blessed to have champions like her fighting for our patients. NORD - you sure know how to throw a great conference!! Cholangiocarcinoma Foundation National Organization for Rare Disorders