1. Glaspy, Erin NNP-BC, IBCLC
  2. Foge, Julie


Background: Having a newborn diagnosed with a rare disorder is fraught with many challenges and opportunities for families and healthcare providers alike.


Purpose: This article presents one mother's journey through the daily blessings and challenges of having a child with a rare disorder.


Methods: Storytelling and reflection interwoven with a case presentation.


Findings/Results: Prader-Willi syndrome can be a diagnosis that is missed in the immediate postpartum period. Careful assessment and evaluation of the infant is needed. Attention to detail will support an accurate and timely diagnosis.


Implications for Practice: Those involved in the care of infants in the neonatal intensive care unit with special needs owing to a rare disorder must guide families through the difficult process of establishing a diagnosis and coping with the short- and long-term implications of that diagnosis.


Implications for Research: Research about the needs of families with children with rare diseases is sorely needed. Finding strategies to best support these families is an area of great need.