title: Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease.
abstract: Despite well-established protocols for the medical management of Von Hippel-Lindau disease (VHL), families affected by this rare tumour syndrome continue to face numerous psychological, social, and practical challenges. To our knowledge, this is one of the first qualitative studies to explore the psychosocial difficulties experienced by families affected by VHL. A semi-structured interview was developed to explore patients' and carers' experiences of VHL along several life domains, including: self-identity and self-esteem, interpersonal relationships, education and career opportunities, family communication, physical health and emotional well-being, and supportive care needs. Quantitative measures were also used to examine the prevalence of anxiety, depression, and disease-specific distress in this sample. Participants were recruited via the Hereditary Cancer Clinic at the Prince of Wales Hospital in Sydney, Australia. A total of 23 individual telephone interviews were conducted (15 patients, 8 carers), yielding a response rate of 75%. A diverse range of experiences were reported, including: sustained uncertainty about future tumour development, frustration regarding the need for lifelong medical screening, strained family relationships, difficulties communicating with others about VHL, perceived social isolation and limited career opportunities, financial and care-giving burdens, complex decisions in relation to childbearing, and difficulties accessing expert medical and psychosocial care. Participants also provided examples of psychological growth and resilience, and voiced support for continued efforts to improve supportive care services. More sophisticated systems for connecting VHL patients and their families with holistic, empathic, and person-centred medical and psychosocial care are urgently needed.
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Kensington, NSW, Australia.
authors.forename: Nadine A
authors.initials: NA
authors.lastname: Kasparian
authors.affiliation: 1] Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Kensington, NSW, Australia [2] Psychosocial Research Group, Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW, Australia.
authors.forename: Alison
authors.initials: A
authors.lastname: Rutstein
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Kensington, NSW, Australia.
authors.forename: Ursula M
authors.initials: UM
authors.lastname: Sansom-Daly
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Kensington, NSW, Australia.
authors.forename: Shab
authors.initials: S
authors.lastname: Mireskandari
authors.affiliation: Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, Australia.
authors.forename: Janet
authors.initials: J
authors.lastname: Tyler
authors.affiliation: Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, Australia.
authors.forename: Jessica
authors.initials: J
authors.lastname: Duffy
authors.affiliation: Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, Australia.
authors.forename: Katherine M
authors.initials: KM
authors.lastname: Tucker
mesh_terms: D000223:Adaptation, Psychological; D000293:Adolescent; D000328:Adult; D000368:Aged; D001315:Australia / Q000453:epidemiology; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D003267:Contraception; D005190:Family; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D019836:Preimplantation Diagnosis; D036301:Qualitative Research; D012944:Social Support; D013315:Stress, Psychological; D011795:Surveys and Questionnaires; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics