Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders' rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57 % of items assessing general genetic knowledge and 49-59 % of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.

Sources of uncertainty and their association with medical decision making: exploring mechanisms in Fanconi anemia.

BACKGROUND: Effects of different sources of medical uncertainty on people's health-related cognitions, emotions, and decision making have yet to be systematically examined. PURPOSE: The aim of this study is to examine how uncertainties arising from different sources are associated with decision making regarding stem cell transplantation in Fanconi anemia, a rare, inherited bone marrow failure syndrome that typically presents during childhood. METHODS: Data were collected through a cross-sectional survey of 178 parents of 126 Fanconi anemia patients. RESULTS: Two distinct sources of uncertainty were associated with decision outcomes: probability was associated with a lower likelihood of choosing stem cell transplantation, and ambiguity due to conflicting expert opinions was associated with greater decision-making difficulty. Concern about transplantation may mediate these associations. CONCLUSIONS: Different sources of uncertainty have different effects on Fanconi anemia treatment decisions, which may be mediated by parents' emotional reactions. Further research is needed to elucidate these effects and help Fanconi anemia families cope with uncertainty.

Peritransplant psychiatric evaluation of patients with fanconi anemia.

Patients with Fanconi anemia (FA) referred for stem cell transplantation (SCT) have multiple psychosocial risk factors and often present in distress in the peritransplant period. Twenty-two patients with FA were referred for psychiatry consultation before, during, or after SCT, across a 13-year period at Memorial Sloan-Kettering Cancer Center. The most common diagnoses were mood (50%), adjustment (46%), and anxiety (23%) disorders and delirium (23%); the most common psychiatric symptoms were anxious/depressed (86%), withdrawn (64%), and aggressive (59%) symptoms. Etiology of the diagnoses and symptoms included: chronic childhood illness, physical and/or neurodevelopmental disability, presence of a genetic syndrome, presence of a cancer predisposition syndrome, exposure to therapeutic androgens, and exposure to pediatric SCT. However, the degree of influence of the different factors could not be determined. In addition, other factors such as impact of sibling illness or loss, extent of treatment nonadherence, level and significance of neurodevelopmental pathologies were identified. Future prospective and possibly multicenter studies will need to be generated for a better understanding and more complete factor analysis.

Waiting for the next shoe to drop: the experience of parents of children with fanconi anemia.

Fanconi Anemia (FA) is a rare genetic disease that generally affects children and results in bone marrow failure requiring blood or marrow transplantation for survival. A unique feature of the condition is the long, often many years, waiting period between genetic diagnosis and treatment. This qualitative study looked at the lived experience of parents confronting their child's diagnosis of FA. We aimed to describe factors which parents found helpful or detrimental during the waiting time period and to recommend strategies to support families who will have these experiences in the future. Categories that emerged were: parents' emotional responses, thoughts about FA (which occurred daily for most parents), sources of stress, mechanisms of coping, family dynamics and responses that were supportive and non-supportive. We found that most parents experience stress, uncertainty, and active surveillance throughout the course of the illness. Healthcare professionals, and especially physicians, were agents of both the most and least supportive experiences of parents. Parents described family centered team care as helpful throughout the illness and health professional education as a priority need.

Electronic monitoring feedback to promote adherence in an adolescent with Fanconi Anemia.

OBJECTIVE: This report describes an intervention to promote medication adherence and treat comorbid psychological symptoms in a 17 year-old female with Fanconi Anemia. The patient presented with a typical adherence rate estimated at 25% and self-reported symptoms of depressed mood and anxiety. METHOD: Our comprehensive treatment approach integrated electronic monitoring (EM), an emerging strategy for adherence promotion, and motivational interviewing (MI) within an evidence-based cognitive-behavioral therapy (CBT) framework. We used EM data to assess and track medication adherence. The therapist reviewed these data with the patient and family in session and used MI techniques to promote health behavior change. We analyzed changes in adherence rates over time using a time series analysis (Auto-Regressive Moving Average [ARIMA]). In addition, the patient and her mother reported on depression, anxiety, and quality of life at intake and after 12 months, and the therapist treated psychological symptoms with CBT. RESULTS: The average adherence rate during the baseline EM phase was ~53%. The mean adherence rate across treatment was ~77%, and after 17 months, the final weekly adherence rate was 82%. Adherence rates significantly improved over the treatment period, ARIMA t = 36.16, p < .01. CONCLUSIONS: EM feedback and MI are viable additions to CBT to promote medication adherence in adolescence. This approach has the potential to effectively treat adolescents with adherence problems and psychological symptoms across multiple chronic illness diagnoses, and ultimately to improve health and quality of life outcomes.

Experiences of siblings of patients with Fanconi anemia.

BACKGROUND: Clinical management of families with autosomal recessive genetic disorders focuses almost exclusively on the affected family members. However, clinically unaffected members of such families may also be severely troubled by the serious illness in a family member. The purpose of this study was to explore the experiences of healthy siblings of patients with a chronic genetic disease, Fanconi Anemia (FA). PROCEDURE: We used a qualitative, descriptive design, which consisted of in-depth, semi-structured interviews. A convenience sample of nine siblings of patients with FA was recruited from a National Cancer Institute clinical research protocol, which targets families with inherited bone marrow failure syndromes. NVivo 2.0 software facilitated qualitative content analysis of the data. RESULTS: Siblings' rich descriptions provided novel insights into the intricate hardships of living within a family in which a rare, life-threatening, chronic genetic illness in one member is the focus of daily life. Four major themes of the sibling experience emerged from the interview data: (1) containment, (2) invisibility, (3) worry, and (4) despair. CONCLUSIONS: Our data suggest that unrecognized psychosocial issues exist for the apparently healthy siblings of patients with FA. This study explores the psychosocial consequences of living in a family with FA and one of only a few studies to explore the sibling experience of chronic illness using a contemporaneous approach. These findings support the need for an increased awareness among health care providers; future hypothesis driven investigation, and improved assessment of problems with potential psychological morbidity.