ABSTRACT
The World Health Organization (WHO 2020) and the American Centers for Disease Control and Prevention (CDC 2020), among others, have emphasized that people with “underlying medical conditions,” including children with genetic and metabolic conditions, are at increased risk for severe illness from COVID-19. Biomedical and social science scholarship foregrounds the concerns of rare metabolic disease patients about contracting the coronavirus and the impact of the C-19 pandemic on their access to treatment and care. In public health discourses, people with rare diseases are regularly portrayed as a vulnerable population. Resilience has “emerged as a counter-narrative to discourses of vulnerability and social suffering” in social sciences and public health. Aware of the life-threatening consequences of metabolic decompensation, Marta and Jan take their doctor’s precautions very seriously, as does their daughter. An elevated plasma creatine kinase (CK) level is considered “the most sensitive measurement for diagnosis” of rhabdomyolysis (RM).
