Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky

Overall, parents were grateful for NBS but expressed concerns about the medicalization of their children's childhood. The referral process is divided into 3 stages: screening, diagnostic, and treatment/management. Parents had both positive and negative feedback at various points in the referral process. Study results will help improve the NBS referral process in the Southern US and have implications for other locations that may choose to add X-ALD to their NBS programs in the future.