Global Impact of Rare Diseases in Our Community: Neurofibromatosis Workshop, Jordan Hall ND - Sept 23rd, 2017
CRND’s engagement with Neurofibromatosis (NF) began in 2015 through pediatrician Dr. Mary Alice Reid (ND ’84,) and her patient family (mother Nicole Sevison with daughter Skylar) when they were invited to campus by RareND club. Skylar was diagnosed with an unusual case of NF1, which led to the development of case report (co-led by Dr. Reid and Senior Madeline Zupan ND ’16, ESTEEM ’17; doi:http://dx.doi.org/10.1101/066316) suggesting that current federal guidelines for NF1 diagnosis should be expanded, exemplifying how a single local case of a rare disease may have broad impact. Supported by Ganey from the Center for Social Concerns, UND.
In 2017, Alec Biscopink (ND ‘18) has undertaken Senior Thesis work in NF1. He is utilizing the resources of the Michiana Health Information Network (MHIN) (one of the largest health information exchanges in the country with ~80,000 rare disease records) as well as the published literature of ~1400 international patients to further analyze the global significance of Skylar Sevison’s unique case.
Alec presented his preliminary findings at the NF1 workshop held by CRND and the Neurofibromatosis Midwest Network, whose focus was education, patient support and awareness. Diana Haberkamp and Liz Campana, from NF Midwest Network shared resources on both clinical and research findings with BIOS 60565 and local NF1 patients and Dr. Reid. Skylar attended too - improved and walking, with a brace!
All students are trained in patient privacy and are HIPAA (Health Insurance Portability and Accountability Act) compliant. Patient engagement is supported by Nurse Calhoun, CRND