title: Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation.
abstract: Pediatric palliative care providers often care for children with rare, poorly understood diseases. In addition to grappling with a life-limiting diagnosis, families face complexity in decision making stemming from the prognostic uncertainty surrounding their child's rare condition. We discuss several unique challenges, illustrated through case studies of three children who shared the rare diagnosis of congenital disorder of glycosylation.
authors.affiliation: 1 Hospital Medicine and Pediatric Advance Team, Seattle Children's Hospital , Seattle, Washington.
authors.forename: Amy
authors.initials: A
authors.lastname: Trowbridge
authors.affiliation: 2 Neonatology, Children's Hospital of Philadelphia , Philadelphia, Pennsylvania.
authors.forename: Miriam T
authors.initials: MT
authors.lastname: Stewart
authors.affiliation: 3 Pediatric Intensive Care and Pediatric Advance Care Team, Seattle Children's Hospital , Seattle, Washington.
authors.forename: Eileen
authors.initials: E
authors.lastname: Rhee
authors.affiliation: 4 Pediatric Advance Care Team, Children's Hospital of Philadelphia , Philadelphia, Pennsylvania.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Hwang
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000523:psychology* / Q000628:therapy*; D003657:Decision Making; D005260:Female; D017051:Hospice Care / Q000379:methods* / Q000523:psychology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010166:Palliative Care / Q000379:methods* / Q000523:psychology*; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Q000172:deficiency*; D011368:Professional-Family Relations; D035583:Rare Diseases / Q000628:therapy*
chemical_list: D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
keywords: communication; congenital disorder of glycosylation; pediatric palliative care; psychosocial issues; rare disease; uncertainty