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Table 5 Examples of physicians involved prior to diagnosis, as reported by patients

From: “Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

First doctor approached

Specialist involvement prior to diagnosis

Doctor who suspected WD

• Primary care doctor

• ER doctor

• Pediatrician

• Speech therapist

• First-year resident

• Ophthalmologist

• College health office

• Cardiopulmonary specialist (family friend)

• Infectious disease doctor

• Oncologist

• Gastroenterologist

• Nursing assistant

• Ophthalmologist

• Primary care doctor

• Psychiatrist

• Neurologist

• Pediatric gastroenterologist

• Intensive care staff

• Gastroenterologist

• ER doctor

• Primary care doctor

• First-year resident

• Pathologist

• Ophthalmologist

• Hepatologist

• Cardiopulmonary specialist (family friend)