Follow up on Rare and Neglected Disease Day 2018

Author: Barb Calhoun

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The Rare Disease Day Conference started strong on Friday, Feb. 9 with exceptional talks along with patient perspectives on the importance of research on rare diseases. 

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Though the conference began with presentations on Ketotic Hyperglycinemia, rare cancers, Cystic Fibrosis and Niemann Pick Type C, the second day of the conference was cancelled because of of snow. That portion of the conference will be rescheduled.

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

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 and undergraduate students, student clubs and faculty were energetically engaged in afternoon interactive “stations” and posters. They were able to share information and educate patients and others through their personalized posters. 

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

The event did not end until the group attended the Notre Dame vs. Ohio State Hockey game and watched an exciting Notre Dame win. Those who attended had a wonderful time. The Center would like to give special thanks to all of the students who are also rare disease patients for sharing their perspectives about the importance of research.

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

Originally published by Barb Calhoun at on February 19, 2018.