Stigma, guilt, and shame

The stigma associated with inherited disease stems from multiple sources. The effect of stigma is heavily influenced by personal, social, and cultural forces and therefore varies significantly from case to case. Understanding the impact of this stigma on individual patients and families is essential for introduction and maintenance of a palliative care plan.

The very concept of having passed on a life-threatening condition is a staggering source of guilt for many parents and grandparents. In conditions inherited through a single parent, this guilt can be unevenly distributed.² Feelings of guilt in a parent may influence decisions regarding both care meant to prolong life and care meant to improve quality of life. An overwhelming sense of responsibility may prevent some parents from asking for assistance. Although parental guilt is a normal response to having a child with an inherited illness, medical providers should be alert for signs of caregiver fatigue or family stress related to these feelings. Genetic counselors are specially trained to work with families around the time of initial diagnosis. The responses of family members often stem from a desire to find underlying meaning for the birth of a child with a genetic condition. Some parents may believe that a past action or inaction caused their child to have a birth defect or an inherited condition.³ Some parents are ashamed for having a child who does not fit the ideals they had prior to, or during, pregnancy.⁴ Some children or families who have particular difficulty adjusting to a genetic diagnosis may benefit from psychiatry or psychology consultations to discuss these feelings in greater detail.

Even aside from the issue of parental responsibility, genetic conditions are further stigmatizing society’s tendency to view a genetic difference as an inherent personal flaw. Medical staff should do all possible not to propagate this viewpoint. In fact, assessing the families’ experiences and listening to responses during initial consultations may give clues regarding feelings of guilt or shame. Patients or families experiencing shame will, at times, withdraw from the situation. Those experiencing an internal sense of responsibility or guilt may blame themselves, rationalize, or intellectualize the situation. Lack of control can be particularly painful for parents experiencing this unrealistic sense of responsibility.⁴ Actively engaging in medical decision making may allow families to feel that they have regained some control.

Language choice

In this increasingly protocol-driven medical environment, providers are often tempted to rely on shorthand terms such as Downs baby to refer to an infant with Down syndrome or CF-er to refer to a child with cystic fibrosis. By doing so, however, they unintentionally marginalize the affected child and suggest that he or she is defined entirely by the disease. Providers should be sensitive to the use of person-first language and current terminology. Providers may invite the family to provide their preferred terminology. For example, a family may express concern regarding the use of mental retardation and prefer cognitive impairment or static encephalopathy. Use of potentially offensive terminology may impede the relationship with the family and prevent open discussion of sensitive issues such as prognosis and end-of-life care. Conversely, choosing language that personalizes the child can set the tone for a holistic approach to medical care giving. Language implying that the medical team sees the child as a whole person allows patients and families to share their goals with the care team.⁵

Recurrence

Families affected by life-threatening inherited illnesses often have the unfortunate distinction of going through the process with multiple family members. Experience with the previously diagnosed individual will likely impact care for the next affected individual, but the specific result is not always predictable. Some families who selected a life-prolonging treatment course for their first affected child may provide only comfort measures for their next affected child. The inverse is also true, and still other families may follow the same course with subsequent affected siblings. These care decisions are highly personal and depend on far more than critique of the care supplied to the previous child. In instances where they can be assessed, the affected child’s treatment goals often influence these decisions.