Follow up on Rare and Neglected Disease Day 2018

Author: Barb Calhoun

This year’s Rare Disease Day Conference started strong on Friday, February 9th, with exceptional research talks along with patient perspectives on the importance of research for Rare Diseases. NonKetotic Hyperglycinemia, Rare Cancers, Cystic Fibrosis and Niemann Pick Type C were some of the research topics presented. Sadly, Saturday was cancelled due to a snow blockade, but we present great highlights from Friday below.

Rob Long, Director of Strategic Development of Uplifting Athletes, was one of our keynote speakers. He shared his courageous battle with a rare form of brain cancer, anaplastic astrocytoma. He is currently 8 years cancer free and is working with 25 different Uplifting Athlete chapters around USA college campuses to help football players engage in events to raise awareness about rare cancers and other rare diseases.

Karen Quandt was a special guest who has frequently attended prior Rare Disease Day conferences at ND in past years. All of the CRND family would like to extend our deepest condolences for the loss of her son, Ty. He and the entire family have been friends to our center for many years and we are deeply saddened by his passing.

A special thanks to all of our students who are also rare disease patients for sharing their perspectives about the importance of research.

Nicole Boice, CEO and Founder of Global Genes, was another keynote speaker. She was accompanied by the Senior Manager of Corporate Engagement, Kathy O’Connell. Nicole shared how Global Genes has been instrumental in helping families affected by rare diseases connect with innovative tools, resources and support. Kathy also assisted in sharing information about the roles that patients can play to positively affect disease related outcomes.

Notre Dame graduate students, undergrads, faculty and student clubs were energetically engaged in afternoon interactive “stations” and posters. Much information was shared and those patients that were able to make it educated us about their diseases and shared personalized posters.

Saturday was cancelled after learning that the county was under a Travel Warning, but Friday did not end until we attended the Notre Dame vs. Ohio State Hockey game. It was so exciting, and Notre Dame ended up winning, clenching first place in the Big 10! Go Irish! Our Rare Disease Day video was played for the crowd and those that attended had a wonderful time.

We plan to reschedule Saturday’s events at a future date. Please know that we will continue to have events and activities with you that will enable us to raise awareness about rare diseases.

Thank you for all that you do in the fight against rare and neglected diseases. Alone we are Rare, Together we are Strong!