Family members’ experience of familial amyloidotic polyneuropathy disease — an infernal struggle and a fact of life

Abstract

Familial amyloidotic polyneuropathy is a fatal, hereditary, systemic, progressive amyloidosis. No previous qualitative study of the family members' experience of the disease has been published. The purpose of this phenomenological study was to understand the lived experience of family members whose nearest and dearest suffered from familial amyloidotic polyneuropathy. In-depth interviews were conducted with six family members. The analysis of the data was inspired by Colaizzi's method. Two major theme categories, difficult to accept and forced to accept, emerged from the interviews. Implications for nursing practice, such as genetic counselling and support, are discussed.

Family dynamics in transthyretin‐related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?

“…Two major themes emerged: the difficulty and the need to accept a disease with such serious implications for the lives in the whole family. 20 A study of Portuguese TTR-FAP Val30Met patients on transgenerational aspects of the illness to understand the role of older generations has shown that there was an intergenerational flow of support, and that communication was higher among affected members and between mothers and affected daughters. 21 The aims of this study were to (1) evaluate how TTR-FAP Val30-Met affected patients and pre-symptomatic carriers perceive their family´s functioning, (2) compare the perception of the family system by these two groups to that of their partners, and (3) compare the above mentioned perceptions to those of patients with multiple sclerosis (MS).…”

“…In order to understand the experiences lived by family members, a phenomenological study was conducted in Sweden, where members of six families were interviewed. Two major themes emerged: the difficulty and the need to accept a disease with such serious implications for the lives in the whole family …”

Ineffective Family Participation in Professional Care: A Concept Analysis of a Proposed Nursing Diagnosis

“…It is very difficult for families to accept that the person they love is seriously ill and that they themselves are unable to help. Nevertheless, mothers perceive their presence as critical for keeping their children healthy and strong, and families want to be able to spend time with their ill members when they are hospitalized or institutionalized (Jonsen, Athlin, & Suhr, 2000;Li et al, 2000;Maas et al, 2001;Rehm, 2000). Families have been restricted, however, from caring for relatives in hospitals or institutions by healthcare professionals and institutional rules (Clarke, 2000;Specht et al, 2000).…”

“…Client factors. When a family member is diagnosed with a chronic health condition, a life-threatening circumstance, or disease relapse, families experience feelings of powerlessness, meaninglessness, and hopelessness, and they are highly dependent on healthcare professionals (Dixon, 1996;Jonsen et al, 2000;Knafl et al, 1996). Two client factors emerged: client age and client health status (e.g., chronic illness, life-threatening illness, relapse).…”

“…Individual family members have various feelings toward the affected family member, including guilt, fears about the future, low expectations, low self-esteem, and low self-confidence. These feelings influence family members' attitudes toward the disability and their own ability to cope (Jonsen et al, 2000). Seven individual family factors were developed: (a) negative family attitude toward the disability or condition, (b) lack of family confidence in their ability to cope, (c) uncertainty about the future, (d) feelings of powerlessness, (e) impaired health status of family members, (f) deficient knowledge level of family members about care skill, and (g) lack of autonomy (i.e., tendency to be dependent on healthcare team).…”