Clinical Translation Seminar With Karen and Ty Quandt

October 7, 2011. Karen and Ty Quandt visited Notre Dame and presented the CRND Clinical Translational Seminar, "Niemann-Pick type C disease - Ty's story - told by Karen and Ty Quandt." Mrs. Quandt, RN, MN is the Chair of the National Niemann-Pick Foundation Board (NNPDF). As the largest Niemann-Pick family support organization in the world, NNPDF unites parents, medical professionals, researchers, educators and friends to fight Niemann-Pick disease.

Ty led off the seminar at Jordan Hall with a powerpoint from his Ipad. Ty's love of life and good humor were evident as the teen shared pictures of his family, many friends, community and favorite sport - baseball. Following up, Karen Quandt delivered an in-depth presentation of the survey of NP-C families, which was the core of her master's thesis, "NNPDF Collaborative Study: Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C." Her research was conducted with the assistance of the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and the Ara Parseghian Medical Research Foundation. Quandt's study has been reviewed by researchers at the NIH and National Human Genome Research Institute, where it has stimulated further investigations of the potential links between common disease risk factors and rare diseases like NP-C disease. In the near future, Mrs. Quandt plans to continue the survey with an international NP-C family group in Spain. Mrs. Quandt shared moving stories about her family's experience, the work of NNPDF on behalf of families, and the state-of-the-art research NNPDF is sponsoring.

Ms. Marisa Truong, coordinator for CRND's course, "Developing Health Networks for Rare and Neglected Diseases" observed a number of critical learning elements students took away from the afternoon sessions:

" The students received advice on how to be compassionate physicians, nurses and healthcare providers in the future.  They learned the value of patience and answering whatever questions the patient or family member may have.  Even if there is no answer, it is still comforting to the patient to know someone is willing to listen and take the time to answer all of his or her questions.  Students also learned the importance of family history and how it may reveal links to other common diseases.  By knowing this history, they may be aware of possible risks for certain rare diseases based on the family history of common diseases. "

To be sure, the Quandts are of a gallant tribe and instruct us in the ways of fierce dedication. Not surprisingly, Karen loves to quote Margaret Mead: "Never doubt that a small group of thoughtful, committed citizens can change the world."

(Photo of Ty Quandt and friend: Will Wall, 2011)

 

 

 

 

Of Interest...