“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

Table 3 – Categories, themes, and subthemes

Category 1: Diagnosis journey
Theme 1: Early presentation			Theme 2: Physician involvement & communication				Theme 3: Extensive testing				Theme 4: Patient emotions & intuition
Subthemes	Age of diagnosis		First doctor approached				Prediagnosis testing				Sense of something not right
	Symptoms prior to diagnosis		Specialists’ involvement prior to diagnosis				Screening				Emotional response
	Early suspected diagnosis		Doctor who first identified WD				Diagnosis confirmation testing
	Time frames from symptoms or clinical presentation to diagnosis		Explanation of diagnosis				Poking and prodding — excessive testing
Category 2: Multidisciplinary approach
	Theme 1: Treatment management					Theme 2: Collaboration				Theme 3: Views on physician treatment
	Multiple specialists					Joint working				Positive
	Time frames					Data sharing				Negative
	Testing
	Pregnancy
	Lack of access
Category 3: Medication
Theme 1: Types of medication		Theme 2: Side effects			Theme 3: Adherence			Theme 4: Cost of medication		Theme 5: Improvement		Theme 6: Ongoing symptoms and concerns
Category 4: The role of insurance
Theme 1: Comprehensive insurance							Theme 2: Limited insurance
Category 5: Education, awareness, and support
Theme 1: Family support				Theme 2: Awareness in the medical community					Theme 3: Information sources

ISSN: 1750-1172