Producing and managing knowledge in a rare disease. The case of Turner Syndrome

Magdalena Radkowska-Walkowicz (University of Warsaw, Poland)

Panel: Production of knowledge and knowledge practices in rare diseases

Abstract: Turner Syndrome (TS) is a genetic condition that affects only girls and involves a partial or complete absence of an X chromosome. Some characteristics of TS include short stature, ovarian failure, and as a result infertility. Girls with TS are put on estrogen replacement therapy and growth hormone treatment. The girls are diagnosed with TS at various stages of their lives.
My presentation will be based on ethnographic research with girls diagnosed with TS as well as their parents, and doctors. I will scrutinize the processes of production knowledge on TS in official, professional discourses, as well as in private narrations. I will explore how information on reproductive possibilities for women with TS are (not) presented in guides, and brochures for patients with TS, and how treatment solutions, produced in the field of biomedicine, become information, that can be managed and distributed in accordance with public and private politics, including the politics of morality. Since the question of what to tell children and when to tell them the truth about TS is a recurring topic in my interviews, I will present also how parents manage knowledge on TS vis a vis their daughters.
As I will argue, TS is not only the medical diagnosis, it also a story about Polish moral governance, reproduction, and women’s rights, as well as the story about communication between doctors and patients, and parents and their children. It reflects unequal relationships in which mysteries, secrets, and unsaid issues play an important role, especially in regard to the child’s position in the society and children’s subjectivity.