Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition requiring daily medication(s) and attention to details. In addition to daily medications and regular visits with healthcare providers, families may live with perpetual angst regarding unpredictable occurrences of acute adrenal insufficiency. Despite numerous barriers and challenges imposed by this chronic condition, caregivers and healthcare professionals can empower our patients to achieve a good quality of life. CAH is a global condition for which access to health care widely varies depending on local resources. Major treatment aims include good health, good quality of life, and achievement of personal goals for affected persons. To achieve these aims, patients, caregivers, and healthcare professionals interact to promote health maintenance and encourage positive outcomes for individuals with CAH. This article describes aspects of daily living with CAH through the perspective of 1 family and their healthcare team living in the United States. A young adult patient, nurse educator, and physicians provide their perspectives regarding patient health care, general well-being, and safety emphasizing that patients with CAH can thrive. Nevertheless, remembering and recognizing that many individuals with CAH live in areas with limited resources and enduring sociocultural barriers is essential. With access to knowledgeable healthcare providers, sufficient resources, and psychosocial support, "children with CAH can thrive and live normal lives." The future challenge is securing mechanisms to decrease the financial, sociocultural, and health access barriers in other communities throughout the world.