Rare metabolic disorders – anthropological perspective

Grant number: 2019/32/T/HS3/00087

Duration: 12 months

Funding: National Science Center

Principal Investigator: Anna Chowaniec

Supervisor: Magdalena Radkowska-Walkowicz, Ph.D.

In my research project I will examine experiences of the families dealing with rare metabolic disorder diagnosis of a child: LCHAD deficiency (LCHADD) and phenylketonuria (PKU). By using ethnographic methodology (participant observation and in-depth interviews) I will analyse and explore everyday struggles of children with inborn errors of metabolism and their caregivers, and will contribute to understanding Polish rare disease patients situation. LCHADD and PKU are considered rare disorders (which, according to regulation of the European Parliament, is one that affects less than 5 in 10 000 individuals), caused by genetic mutation and are diagnosed in first few days of child's life. As in case of most rare disorders, there is no known cure cures or, however, with proper treatment patients can improve and survive into adulthood. Treatment involves a strict diet that should be followed for patients whole life. In case of LCHADD dietary treatment involves high-caloric intake and fat-free products, and in PKU products low in phenylalanine (one of proteins) and special formula, that has to be taken daily. Failure to comply with diet requirements can be fatal for people with LCHADD and can cause severe intellectual disability in case of PKU.

Main objective of my research is to understand families management of disease: how diagnosis influenced peer and family members relationships, how caregivers and children perception of the disease and dietary requirements, what defines disability (not only in the eyes of parents, but also welfare and education system), and last, but not least, what is the everyday experience of living with metabolic disorder. The projects’ main field of research would be to study strategies of managing the disease through the lens of medical anthropology, as well as disability, childhood and food studies. My hope is that by showing differences and similarities between experiences of LCHADD and PKU patients’ families I could contribute to still not well anthropologically researched field of rare diseases.