Throughout my training and education, I have taken a special interest in the psychosocial burdens of genetic disease and ways that providers can mitigate these burdens. During medical school, I worked in outreach, executing a series of writing workshops for children and adults affected by genetic diagnoses. Since then, I have moved on to academic investigations of the psychosocial burden of genetic diagnoses. My research has included analysis of the utility of certain patient-reported outcome measures (PROMs) in osteogenesis imperfecta; assessment of psychosocial functioning in the rare disease TANGO2; and analysis of sequencing data and seeing patients for the Undiagnosed Disease Network.
My research continues to focus on quality of life in patients and families affected by genetic conditions, and the ways in which clinicians and researchers can measure and improve quality of life. My clinical practice focuses on general pediatric genetics, and I have received specialized training in skeletal dysplasias.
Outside of medicine, I also write personal essays. I have had essays published in several literary magazines, and my writing informs my desire to hear patients' stories.