The Barriers and Quality of Care Issues for Individuals Diagnosed with 22q11.2 Deletion Syndrome

Individuals diagnosed with 22q11.2 deletion syndrome (22q) have many barriers and quality of life issues associated with the condition. Without an obvious anomaly, affected individuals may live years without a proper diagnosis. The purpose of this qualitative case study research was to explore perceptions of caregivers of individuals with 22q. Uncertainty in illness theory was used as it describes the inability to find answers with unpredictable medical issues. The central research question focused on at how challenges associated with a 22q diagnosis are addressed. Interviews were conducted with 10 caregivers. Guided by the uncertainty in illness theory, data analysis was conducted by coding through NVivo to find themes. Themes identified included, but were not limited to: (a) age and symptoms at diagnosis; (b) usage of the internet for answers; (c) future transition uncertainties; and (d) lack of provider knowledge. Five out of 10 participants had a child with a known heart condition at birth, which led to a 22q diagnosis. Five out ten individuals with 22q were diagnosed at a later age following a manifestation of other serious conditions. A greater index of suspicion could have led to a more timely diagnosis of 22q. All individuals expressed the desire for a more prompt and thorough diagnosis. The positive implications for social change include influencing physicians and policy makers through education and implemented policies that can lead to more timely diagnoses and treatment for better health outcomes. This social change can influence the target population through scholarly publications in medical journals. It may also be influenced through policy proposals influencing early detection screenings at birth. The addition of caregiver advocates may also bring about change within the 22q community