Cognitive and emotional experiences of parents of children with Tyrosine Hydroxylase Deficiency during the diagnostic journey in Serbia: A preliminary study

Rare diseases are often complex and difficult to diagnose, resulting in significant delays in obtaining a definitive diagnosis. These delays can place emotional and psychological strain on parents, who must navigate an uncertain medical journey. This study aimed to explore both cognitive and emotional experiences of parents, from the moment they first notice symptoms in their child to the point of receiving a formal diagnosis. We conducted semi-structured interviews with five parents of children diagnosed with Tyrosine Hydroxylase Deficiency. The interviews were analyzed using inductive reflexive thematic analysis. Three main themes were identified regarding parents' cognitive experiences: (1) Something didn't feel right: early signs and parental uncertainty, (2) Seeking information: parents' experiences through a complex diagnostic journey, and (3) Between compassion and distance: communication with professionals. Likewise, three key themes were identified in relation to parents' emotional experiences: (1) Emotional whirlwind: the dynamics of sadness, fear, and hope, (2) Navigating emotional turbulence: parental coping mechanisms, and (3) Emotional dynamics of heterosexual partner relationships. The findings highlight the complex and multifaceted nature of parental experiences during the diagnostic journey. This study emphasizes the importance of not only addressing the needs of children with a rare disorder but also recognizing and supporting the emotional and cognitive challenges faced by their parents. Given the preliminary nature of this research and its geographic focus on Serbia, the findings are exploratory and may not generalize to other populations.