The Boler Parseghian Center for Rare and Neglected Diseases partnered with local families and the Neurofibromatosis Midwest Network to hold our first Neurofibromatosis Education, Patient Support, and Awareness Seminar. This interactive forum allowed for service organizations, patient families and health care providers to share experiences related to the care and treatment of patients with Neurofibromatosis.
NF Type 1 is a genetic disorder characterized by the development of multiple noncancerous tumors of nerves and skin and areas of abnormal skin color (pigmentation). Parents shared their personal experiences about having a child with NF1 and how the disease has affected their lives.
Nicole Severson, RN and mother to a child with Neurofibromatosis Type 1 shared her story about the rare condition associated with NF1 known as Pseudoarthrosis. Mrs. Severson has been instrumental in raising awareness about this disease in our community through organizing this seminar and presenting annually at Notre Dame’s rare disease day event.
Diana Haberkamp and Liz, from NF Midwest patient organization shared resources for patient families to include NF clinics, current research information, disease specific educational materials and patient family support programs and services. Mary Alice Reid, MD, a pediatrician from Beacon Pediatrics Group in Elkhart discussed the difficulties in diagnosis of NF patients and the need for collaboration with families, primary care and specialists in order to successfully meet the needs of NF patients.
Finally, Alec Biscopink, ND’18 presented preliminary work for his undergraduate neuroscience thesis related to disease related symptoms and frequency in patients in the South Bend Community. Alec is conducting a comparative analysis of patient medical records from the Michiana Health Information network with the records from the Notre Dame Natural History study. This information will be used to better understand the disease progression and symptom variability.