title: Prader-Willi Syndrome: A Case Study and Parent Perspective.
abstract: BACKGROUND
  Having a newborn diagnosed with a rare disorder is fraught with many challenges and opportunities for families and healthcare providers alike.
  
  
  OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatrix Medical Group/Rose Medical Center NICU, Denver, Colorado (Ms Glaspy), and mother of Eliza (Ms Foge).
authors.forename: Erin
authors.initials: E
authors.lastname: Glaspy
authors.forename: Julie
authors.initials: J
authors.lastname: Foge
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal; D009723:Nurse-Patient Relations; D010290:Parents / Q000523:psychology*; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics / Q000523:psychology / Q000628:therapy; D011368:Professional-Family Relations; D035583:Rare Diseases