Biomaterial Database

Prader-Willi Syndrome: A Case Study and Parent Perspective. 2015

Erin Glaspy, and Julie Foge

Pediatrix Medical Group/Rose Medical Center NICU, Denver, Colorado (Ms Glaspy), and mother of Eliza (Ms Foge).

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.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D009723	Nurse-Patient Relations	Interaction between the patient and nurse.	Nurse Patient Relations,Nurse Patient Relationship,Nurse Patient Relationships,Nurse-Patient Relation,Patient Relations, Nurse,Patient Relationship, Nurse,Patient Relationships, Nurse,Relations, Nurse Patient,Relations, Nurse-Patient,Relationship, Nurse Patient,Relationships, Nurse Patient
D010290	Parents	Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent.	Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D011218	Prader-Willi Syndrome	An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)	Labhart-Willi Syndrome,Royer Syndrome,Labhart-Willi-Prader-Fanconi Syndrome,Prader Labhart Willi Syndrome,Prader-Labhart-Willi Syndrome,Royer's Syndrome,Willi-Prader Syndrome,Labhart Willi Prader Fanconi Syndrome,Labhart Willi Syndrome,Prader Willi Syndrome,Royers Syndrome,Syndrome, Labhart-Willi,Syndrome, Labhart-Willi-Prader-Fanconi,Syndrome, Prader-Labhart-Willi,Syndrome, Prader-Willi,Syndrome, Royer,Syndrome, Royer's,Syndrome, Willi-Prader,Willi Prader Syndrome
D011368	Professional-Family Relations	The interactions between the professional person and the family.	Professional Family Relationship,Family Relationship, Professional,Family Relationships, Professional,Professional Family Relations,Professional Family Relationships,Professional-Family Relation,Relation, Professional-Family,Relations, Professional-Family,Relationship, Professional Family,Relationships, Professional Family
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015931	Intensive Care, Neonatal	Continuous care and monitoring of newborn infants with life-threatening conditions, in any setting.	Infant, Newborn, Intensive Care,Neonatal Intensive Care,Care, Neonatal Intensive
D035583	Rare Diseases	A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.	Orphan Diseases,Disease, Orphan,Disease, Rare,Orphan Disease,Rare Disease