“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
Bailey K, Sahota N, To U, Hedera P. “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. Orphanet Journal Of Rare Diseases 2023, 18: 158. PMID: 37349760, PMCID: PMC10288732, DOI: 10.1186/s13023-023-02778-3.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAttentionCopperHepatolenticular DegenerationHumansPhysiciansRare DiseasesZincConceptsPhysician experienceCoordination of careLow copper dietWilson's disease diagnosisLiver transplantationLifelong treatmentNeurological symptomsHepatic symptomsDefinitive diagnosisDietary regimenInsurance barriersWide patientPsychiatric symptomsPatientsRare diseaseCommunity outreach programsDiagnostic journeyQualitative studyMultidisciplinary teamWD patientsMedicationsMultiple specialtiesPhysiciansDiagnosisSymptoms