title: Genetics' influence on patient experiences with a rare chronic disorder: a photovoice study of living with alpha-1 antitrypsin deficiency.
abstract: Patients with rare chronic disorders and their caregivers increasingly form communities to support and exchange social experiences. Because up to 10% of the United States population is affected by one of 5000 to 6000 rare disorders, efforts to understand the individuals and affected communities are important. This study was conducted using community-based participatory research approaches within a community of patients and caregivers living with alpha-1 antitrypsin (AAT) deficiency. Patient populations at some risk for lung transplant include individuals who smoked cigarettes and patients who underwent liver transplant in infancy and later adulthood due to accumulation of misfolded AAT within hepatocytes.
authors.affiliation: College of Nursing, University of Arkansas for Medical Sciences, 4301 West Markham Street, #529, Little Rock, AR 72205-7199, USA; Alpha-1 Community Research Partnership, Medical University of South Carolina, 96 Jonathan Lucas St, MSC 630, Charleston, SC 29425, USA. Electronic address: wilpame@musc.edu.
authors.forename: Pamela Holtzclaw
authors.initials: PH
authors.lastname: Williams
authors.forename: Lucinda
authors.initials: L
authors.lastname: Shore
authors.forename: Marvin
authors.initials: M
authors.lastname: Sineath
authors.forename: Jim
authors.initials: J
authors.lastname: Quill
authors.forename: Barbara
authors.initials: B
authors.lastname: Warner
authors.forename: Jamila
authors.initials: J
authors.lastname: Keith
authors.forename: Deirdre
authors.initials: D
authors.lastname: Walker
authors.forename: Sara
authors.initials: S
authors.lastname: Wienke
authors.forename: Susan
authors.initials: S
authors.lastname: Flavin
authors.forename: Charlie
authors.initials: C
authors.lastname: Strange
mesh_terms: D000328:Adult; D000368:Aged; D017028:Caregivers / Q000523:psychology; D002908:Chronic Disease; D005260:Female; D005817:Genetic Counseling / Q000379:methods / Q000523:psychology*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010353:Patient Education as Topic; D012307:Risk Factors; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics / Q000451:nursing* / Q000523:psychology*
keywords: Chronic diseases; Genetics; Photovoice