"To have children or not?" Between desire, responsibility, luck, and guilt: reproductive decision-making in individuals with neurofibromatosis type 1.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder with a 50% chance of being passed to offspring. Its hereditary nature presents individuals with complex reproductive dilemmas. This study explores the complexity of decision-making and reproductive choices faced by people with NF1 regarding parenthood. RESULTS: Genetic risk is a key factor shaping reproductive decisions. For some individuals, the decision not to have children is seen as a protective and morally responsible practice, aiming to spare potential offspring from the stigma and isolation they themselves experienced. Some women were also concerned for their own physical and emotional health, especially in relation to pregnancy and caregiving. Medical professionals' opinions significantly influence choices, sometimes outweighing personal desires for parenthood and shaping perceptions of reproductive responsibility. Parents who were unaware of their diagnosis at the time of conception express guilt and regret. Despite the risks, many still wish to have children but struggle with the fear of passing on the NF1 mutation and potential difficulties in bonding with a child who may also be affected. Individuals who realized procreative plans despite severe NF1 treat parenthood as an important element of their non-disease identity and a source of emotional strength. CONCLUSIONS: For individuals with NF1, reproductive decision-making is a complex dilemma, in which procreation anxiety intersects with hopes for parenthood, a sense of responsibility for the child's future, and personal identity.