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So Much More Than a Natural History Study

Posted by mclark14 on 12 Oct 2011 at 02:01 GMT

The 'Developing Health Networks in Rare Diseases' course, which produced this paper, has taught more than just how to characterize Niemann-Pick Type C based on its symptomology and biochemistry. While knowing how the inability of the NPC protein to transport cholesterol within the cell translates into progressive neurodegenerative disease has proven both fascinating and stimulating, it is not the most important lesson learned in this course. Each week we were given a glimpse into the lives of the families, physicians, and researchers courageously fighting to end the tragedy of this disease. We have learned how families cope with the news that a loved one has an incurable rare disease and witnessed the courage those families demonstrate in standing with that loved one until his/her memory is all that remains. These experiences, combined with getting to meet and interact with the doctors and researchers who lead the charge in this battle has truly grounded my goal to become a physician. Knowing that we were helping free up the time and minds of physicians and researchers, in any way, by the results of this class so that they could focus more on patients was more rewarding than any grade I could have received. I simply can't speak enough about the positive aspects of the class. We were getting to think like doctors in a safe environment, which can only serve to make us all better clinicians in the future.
I concur with Ms. VanTrieste's observation that this kind of class should be offered elsewhere. The positive contributions of classes and studies like these should easily outweigh any operation costs in terms of student engagement, stimulating intellectual discussion, and promoting awareness of rare diseases like NPC.

No competing interests declared.