Waiting for the next Shoe to Drop: The Experience of Parents of Children with Fanconi Anemia

Abstract

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.

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

“…The IBMFS are rare; patients and family members may struggle to identify local healthcare providers with sufficient experience with their disorder and may have few opportunities to interact directly with others affected with the same disorder. Indeed, online communities and resources have been identified as valuable sources of support for parents of children with FA (Zierhut & Bartels, 2012) and for those diagnosed with other rare genetic disorders (Black & Baker, 2011; Gundersen, 2011; Rivard & Mastel-Smith, 2014; Schaffer, Kuczynski, & Skinner, 2008). Each of the leading IBMFS family support organizations has a strong online presence including the Fanconi Anemia Research Fund, Inc. (founded in 1985; www.fanconi.org), Diamond Blackfan Anemia Foundation, Inc. (founded in 1994; www.dbafoundation.org), Shwachman-Diamond Syndrome Foundation (founded in 1994; www.shwachman-diamond.org) and Dyskeratosis Congenita Outreach, Inc. (founded in 2008; www.dcoutreach.org), and disseminating education and medical information are crucial elements of their missions.…”

Decision making in pediatric hematopoietic cell transplantation: Influential factors vary among diseases

“…Regardless of the indication for HCT, stakeholders recognized HCT as a cure, with the awareness that HCT offered both hope and danger . Perception of HCT effectiveness was influential to some stakeholders with SCD and FA, but Friedrich et al.…”

“…There was an awareness of timing recognized among all diseases, but conflict existed for those with nonmalignant diseases as compared to an urgency in those with malignancy. Stakeholders considering HCT for FA did not always feel treatment was urgent . The urgency to undergo HCT for malignancy came from a belief that HCT is best .…”

“…However, processing this information was different between the two populations. Those with malignancy struggled to make sense of the information they received as there was a focus on threat to the child/adolescent's life . Those with malignancy were often able to process the information during or after the HCT, but not during the decision‐making process .…”

“…Stakeholders looked to a variety of sources for support when making the decision to pursue HCT. Those with malignant disease and FA often placed trust in their physicians or experts for treatment guidance and reassurance that HCT was best . Those with nonmalignant diseases relied more on their experiences with healthcare and others .…”