2017
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH, Undiagnosed Diseases Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet Journal Of Rare Diseases 2017, 12: 71. PMID: 28416019, PMCID: PMC5392939, DOI: 10.1186/s13023-017-0623-3.Peer-Reviewed Original ResearchConceptsUndiagnosed Diseases NetworkUndiagnosed illnessesObjective findingsUndiagnosed diseaseUnique illness experiencesIllness narrativesHumane medical careDisease networkUndiagnosed patientsChild's illnessChild healthcareAdult probandsMedical careIllnessIllness experienceHealthcare optionsPatientsProbandsAdultsHealthy lifeSymptomsDiseaseChild managementPersonal medical informationMedical information
2016
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Rosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang Y, Mathey‐Andrews N, Goldstein DB, Shashi V. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. Journal Of Genetic Counseling 2016, 25: 1019-1031. PMID: 26868367, DOI: 10.1007/s10897-016-9933-1.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLikely diagnosisParental perceptionsRetrospective semi-structured interviewsMedical careWES findingsExome sequencingParents of childrenNegative genetic testing resultsGenetic testing resultsChild's medical careRare genetic disorderClinical diagnostic categoriesParental expectationsSense of isolationParental motivationDefinite diagnosisPrimary diagnosisRare disorderSemi-structured interviewsEducational professionalsSpecific treatmentUndiagnosed disordersPossible diagnosisRecurrence risk