ABSTRACT
Knowledge about rare and genetic diseases has grown exponentially with subsequent changes to treatments, care protocols, and policies. This chapter focuses on Madyson, a child with a rare metabolic disease, and her family as they journey through their diagnostic odyssey, adapt to complex care regimens, and maintain family health and mental health. The involvement of their pediatric social worker and healthcare team is delineated. This case illustrates clinical challenges, disparities, and policy issues relevant to work with patients and communities affected by rare conditions and presents a longitudinal picture of rare disease experience and treatment over time.
