Background and Objectives: Hypohidrotic ectodermal dysplasia (HED) is a rare inherited (sex-linked) disorder that leads to sparse hair, few teeth and impaired sweating in males. It impacts substantially on facial appearance and often leads to stigmatisation as well as physical challenges (e.g. overheating). When talking about HED, patients and relatives sometimes focus on the health problems and sometimes the social challenges.
Methods: Interviews were conducted with members of 20 families to explore their experiences of life with HED, including the management of stigmatisation and making decisions about reproduction.
Findings: Coping with stigmatisation is as much a problem for those affected as avoiding hazardous overheating. Discussing attitudes to reproduction raises challenging questions for affected males, reflecting their experiences of life and self-esteem. Decisions about reproduction made by their female carrier relatives may be shaped by how their male relatives have coped with the stigmatisation. Female carriers may also express guilt at transmitting the condition.
Conclusions: There are important implications of these findings for considering the influence of experienced, observed or anticipated stigma in the making of reproductive decisions. Such effects may be important components of decisions in the face of information generated by new methods of prenatal screening.