The case study explores the diagnostic process, clinical features, and management of cystic fibrosis (CF) through the experience of a 13-month-old boy presenting with a persistent cough, poor growth, and diarrhea. Initial assessments suggest possible chronic respiratory or gastrointestinal issues. A sweat chloride test and genetic testing confirm a diagnosis of CF due to a ΔF508 mutation, the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation. The case addresses CF’s systemic impact on respiratory, gastrointestinal, reproductive, and endocrine systems and highlights diagnostic challenges, especially in culturally diverse communities. Treatment approaches, including CFTR modulators and supportive therapies, are discussed alongside social determinants of health affecting access to care. The case discusses the importance of genetic counseling and early intervention for improved patient outcomes.