Psychosocial aspects of patients with Niemann‐Pick disease, type B

Abstract

Health-care providers have only begun to understand the medical aspects of Niemann-Pick disease type B (NPDB), a relatively rare disease. Even less information is known about the psychological effects of living with NPDB. Patients with NPDB and their families face numerous psychological stressors including extensive medical testing, uncertainty of diagnosis, living and coping with a chronic illness, and grief and bereavement surrounding this progressively debilitating, and, ultimately, fatal disease. We used a qualitative case study approach to explore the human experiences of NPDB patients and families. To assess psychosocial adjustment, all participants were administered a semi-structured, qualitative interview, as well as quantitative measures. Five major findings emerged: (1) limited physical activity, social isolation, and peer rejection were identified as significant stressors; (2) stressors had a specific impact during the age span of 10-16 years; (3) parents and adult patients expressed frustration regarding the lack of available information and treatment; (4) patients described close family relationships as a way of coping with illness; and (5) adult patients identified early medical experiences as having a considerable psychological impact. The results of this investigation highlight and expand awareness of the psychological and social needs of NPDB patients and families. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

“…Previous research in this area has identified parents’ use of a range of strategies that included proactive coping, other positive coping strategies (e.g., religion, emotional/social support), and less adaptive means of coping (such as substance use) [24]. Similar to our study, others have identified social support, including close family and friend relationships [5, 20, 25, 26] and social media [27], as important to caregiver and family well-being. These informal support systems were commonly identified as important in our study, while the receipt of formal psychological or counselling services was mentioned less frequently by participants.…”

“…Families’ concerns about the social development of children with IMD may be exacerbated during life transitions, particularly adolescence [25, 27], and may be more prevalent for IMD characterized by significant physical disability [25]. In our study we identified social challenges in families of relatively young children (up to age 7) that were mainly connected to the need for specialized diets, and thus we were unable to corroborate previous research about transitions to adolescence and adulthood.…”

Living Without a Diagnosis: The Parental Experience

“…Yet, frustration is not an issue experienced only by those without a diagnosis. Other studies have shown that frustration also occurs when parents do have a diagnosis (Russ et al, 2004;Wennick and Hallstrom, 2007;Doig et al, 2009;Henderson et al, 2009). Further, a number of other findings from this study, including the reasons given for wanting a diagnosis, the active role that parents play in managing care and treatment for their child, and the maternal difficulties in meeting employment expectations, were experienced in other studies in which the child did have a diagnosis (Young et al, 2002;Hummelinck and Pollock, 2006;Green, 2007).…”

Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues

“…Items in this domain along with questions about relationships with family and peers, are based in part on the work of Mellin and her colleagues (Mellin et al 2004) in their study of parents' experiences of parenting an adolescent daughter with type 1 diabetes. In addition, these questions were drawn from semi-structured interviews used to examine the experiences of patients with other inherited metabolic disorders including Neimann Pick B (NPD type B) (Henderson et al 2009) Gaucher disease (Packman et al 2006) as well as from surveys from parents of children with MSUD (Packman et al 2007).…”