title: Living with idiopathic basal ganglia calcification 3: a qualitative study describing the lives and illness of people diagnosed with a rare neurological disease.
abstract: OBJECTIVE
  Idiopathic basal ganglia calcification (IBGC) is a rare, intractable disease with unknown etiology. IBGC3 is a familial genetic disease defined by genetic mutations in the major causative gene (SLC20A2). People with IBGC3 experience distress from the uncommon nature of their illness and uncertainty about treatment and prognoses. The present study aimed to describe the lives and illness of people with IBGC3.
  
  
  METHODS
  Participants were recruited from patients aged 20 years or older enrolled in a genetic study, who were diagnosed with IBGC3 and wanted to share their experiences. In-depth semi-structured interviews were conducted with six participants. Interviews were conducted between December 2012 and February 2014, and were recorded and transcribed verbatim. Qualitative data analysis was performed to identify categories and subcategories. Efforts were made to ensure the credibility, transferability, dependability, conformability, and validity of the data.
  
  
  RESULTS
  Six thematic categories, 17 subcategories, and 143 codes emerged. The six categories were: (1) Frustration and anxiety with progression of symptoms without a diagnosis; (2) Confusion about diagnosis with an unfamiliar disease; (3) Emotional distress caused by a genetic disease; (4) Passive attitude toward life, being extra careful; (5) Taking charge of life, becoming active and engaged; and (6) Requests for healthcare.
  
  
  CONCLUSIONS
  The qualitative data analysis indicated a need for genetic counseling, access to disease information, establishment of peer and family support systems, mental health services, and improvement in early intervention and treatment for the disease.
authors: Department of Gerontological Nursing, Toyama University, Toyama, Japan.
authors: Tomiko
authors: T
authors: Takeuchi
authors: Department of Adult Health Nursing, Toho University, Tokyo, Japan.
authors: Koko
authors: K
authors: Muraoka
authors: Department of Neurology and Geriatrics, Gifu University, Gifu, Japan.
authors: Megumi
authors: M
authors: Yamada
authors: Laboratory of English Studies, Gifu Pharmaceutical University, Gifu, Japan.
authors: Yuri
authors: Y
authors: Nishio
authors: Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
authors: Isao
authors: I
authors: Hozumi
keywords: Fahr disease; Idiopathic basal ganglia calcification (IBGC); Narrative; Primary familial brain calcification (PFBC); Qualitative research