Date of Award


Document Type

Thesis - Open Access


Rare disease is a significant healthcare burden, affecting an estimated 25-30 million U.S. citizens. This equates to 1 in 10 Americans, over half of which are children. It has been suggested that primary care can significantly aid the medical management of rare disease patients’ unique conditions, but data on the relationship between rare disease and primary care is limited. Current knowledge consists of physician opinion pieces and analyses of medical records, but it lacks patient-reported data and perspectives. For the first time, 282 U.S. patients with rare diseases were surveyed regarding which primary care services they were receiving and which healthcare professionals were involved. Our study was limited to metabolic disorders listed by the National Institute of Health Genetic and Rare Diseases (GARD) Information Center and excluded conditions with a life expectancy under 12 years. The anonymous 12-question online survey was sent to patient organizations and advocacy groups associated with these conditions. Overall, respondents reported receiving the majority of their primary care from primary care physicians (PCPs), including family physicians, internists, and pediatricians, rather than specialists. The majority (86%) of respondents reported being satisfied with their primary care. Factors like distance from a major urban area, gender, and age did not significantly correlate to patient satisfaction. Our study suggests that despite their generalist training, PCPs play an important role for rare disease patients. It is therefore important that PCPs be prepared to care for these patients. Future research into health insurance, rare disease subtypes, and the training PCPs receive regarding rare disease would further our ability to address this healthcare burden.