Continuing a search for a diagnosis: the impact of adolescence and family dynamics
Authors: Miller Ilana M. , Yashar Beverly M. ,   Undiagnosed Disease Network, Acosta Maria T. , Adam Margaret , Adams David R. , Agrawal Pankaj B. , Alvey Justin , Amendola Laura , Andrews Ashley , Ashley Euan A. , Azamian Mahshid S. , Bacino Carlos A. , Bademci Guney , Baker Eva , Balasubramanyam Ashok , Baldridge Dustin , Bale Jim , Bamshad Michael , Barbouth Deborah , Bayrak-Toydemir Pinar , Beck Anita , Beggs Alan H. , Behrens Edward , Bejerano Gill , Bellen Hugo J. , Bennett Jimmy , Berg-Rood Beverly , Bernstein Jonathan A. , Berry Gerard T. , Bican Anna , Bivona Stephanie , Blue Elizabeth , Bohnsack John , Bonnenmann Carsten , Bonner Devon , Botto Lorenzo , Boyd Brenna , Briere Lauren C. , Brokamp Elly , Brown Gabrielle , Burke Elizabeth A. , Burrage Lindsay C. , Butte Manish J. , Byers Peter , Byrd William E. , Carey John , Carrasquillo Olveen , Chang Ta Chen Peter , Chanprasert Sirisak , Chao Hsiao-Tuan , Clark Gary D. , Coakley Terra R. , Cobban Laurel A. , Cogan Joy D. , Coggins Matthew , Cole F. Sessions , Colley Heather A. , Cooper Cynthia M. , Cope Heidi , Craigen William J. , Crouse Andrew B. , Cunningham Michael , D’Souza Precilla , Dai Hongzheng , Dasari Surendra , Davis Joie , Dayal Jyoti G. , Dell’Angelica Esteban C. , Dipple Katrina , Doherty Daniel , Dorrani Naghmeh , Doss Argenia L. , Douine Emilie D. , Draper David D. , Duncan Laura , Earl Dawn , Eckstein David J. , Emrick Lisa T. , Eng Christine M. , Esteves Cecilia , Falk Marni , Fernandez Liliana , Ferreira Carlos , Fieg Elizabeth L. , Findley Laurie C. , Fisher Paul G. , Fogel Brent L. , Forghani Irman , Gahl William A. , Glass Ian , Gochuico Bernadette , Godfrey Rena A. , Golden-Grant Katie , Goldrich Madison P. , Goldstein David B. , Grajewski Alana , Groden Catherine A. , Gutierrez Irma , Hahn Sihoun , Hamid Rizwan , Hassey Kelly , Hayes Nichole , High Frances , Hing Anne , Hisama Fuki M. , Holm Ingrid A. , Hom Jason , Horike-Pyne Martha , Huang Yong , Huang Alden , Huryn Laryssa , Isasi Rosario , Izumi Kosuke , Jamal Fariha , Jarvik Gail P. , Jarvik Jeffrey , Jayadev Suman , Karaviti Lefkothea , Kennedy Jennifer , Ketkar Shamika , Kiley Dana , Kilich Gonench , Kobren Shilpa N. , Kohane Isaac S. , Kohler Jennefer N. , Korrick Susan , Kozuira Mary , Krakow Deborah , Krasnewich Donna M. , Kravets Elijah , Krier Joel B. , Lalani Seema R. , Lam Byron , Lam Christina , LaMoure Grace L. , Lanpher Brendan C. , Lanza Ian R. , Latham Lea , LeBlanc Kimberly , Lee Brendan H. , Lee Hane , Levitt Roy , Lewis Richard A. , Lincoln Sharyn A. , Liu Pengfei , Liu Xue Zhong , Longo Nicola , Loo Sandra K. , Loscalzo Joseph , Maas Richard L. , MacDowall John , Macnamara Ellen F. , MacRae Calum A. , Maduro Valerie V. , Mahoney Rachel , Mak Bryan C. , Malicdan May Christine V. , Mamounas Laura A. , Manolio Teri A. , Mao Rong , Maravilla Kenneth , Markello Thomas C. , Marom Ronit , Marth Gabor , Martin Beth A. , Martin Martin G. , Martfnez-Agosto Julian A. , Marwaha Shruti , McCauley Jacob , McConkie-Rosell Allyn , McCray Alexa T. , McGee Elisabeth , Mefford Heather , Merritt J. Lawrence , Might Matthew , Mirzaa Ghayda , Morava Eva , Moretti Paolo M. , Moretti Paolo , Mosbrook-Davis Deborah , Mulvihill John J. , Nakano-Okuno Mariko , Nath Avi , Nelson Stanley F. , Newman John H. , Nicholas Sarah K. , Nickerson Deborah , Nieves-Rodriguez Shirley , Novacic Donna , Oglesbee Devin , Orengo James P. , Pace Laura , Pak Stephen , Pallais J. Carl , Palmer Christina G. S. , Papp Jeanette C. , Parker Neil H. , Phillips John A. , Posey Jennifer E. , Potocki Lorraine , Power Bradley , Pusey Barbara N. , Quinlan Aaron , Raja Archana N. , Rao Deepak A. , Raper Anna , Raskind Wendy , Renteria Genecee , Reuter Chloe M. , Rives Lynette , Robertson Amy K. , Rodan Lance H. , Rosenfeld Jill A. , Rosenwasser Natalie , Rossignol Francis , Ruzhnikov Maura , Sacco Ralph , Sampson Jacinda B. , Saporta Mario , Schaechter Judy , Schedl Timothy , Schoch Kelly , Scott Daryl A. , Scott C. Ron , Shashi Vandana , Shin Jimann , Signer Rebecca H. , Silverman Edwin K. , Sinsheimer Janet S. , Sisco Kathy , Smith Edward C. , Smith Kevin S. , Solem Emily , Solnica-Krezel Lilianna , Solomon Ben , Spillmann Rebecca C. , Stoler Joan M. , Sullivan Kathleen , Sullivan Jennifer A. , Sun Angela , Sutton Shirley , Sweetser David A. , Sybert Virginia , Tabor Holly K. , Tan Queenie K.-G. , Tan Amelia L. M. , Tekin Mustafa , Telischi Fred , Thorson Willa , Thurm Audrey , Tifft Cynthia J. , Toro Camilo , Tran Alyssa A. , Tucker Brianna M. , Urv Tiina K. , Vanderver Adeline , Velinder Matt , Viskochil Dave , Vogel Tiphanie P. , Wahl Colleen E. , Walker Melissa , Wallace Stephanie , Walley Nicole M. , Walsh Chris A. , Wambach Jennifer , Wan Jijun , Wang Lee-kai , Wangler Michael F. , Ward Patricia A. , Wegner Daniel , Hubshman Monika Weisz , Wener Mark , Wenger Tara , Perry Katherine Wesseling , Westerfield Monte , Wheeler Matthew T. , Whitlock Jordan , Wolfe Lynne A. , Woods Jeremy D. , Worley Kim , Yamamoto Shinya , Yang John , Yousef Muhammad , Zastrow Diane B. , Zein Wadih , Zhang Zhe , Zhao Chunli , Zuchner Stephan , Macnamara Ellen F. 
Published: January 2023

The “diagnostic odyssey” describes the process those with undiagnosed conditions undergo to identify a diagnosis. Throughout this process, families of children with undiagnosed conditions have multiple opportunities to decide whether to continue or stop their search for a diagnosis and accept the lack of a diagnostic label. Previous studies identified factors motivating a family to begin searching, but there is limited information about the decision-making process in a prolonged search and how the affected child impacts a family’s decision. This study aimed to understand how families of children with undiagnosed diseases decide whether to continue to pursue a diagnosis after standard clinical testing has failed. Parents who applied to the Undiagnosed Disease Network (UDN) at the National Institutes of Health (NIH) were recruited to participate in semi-structured interviews. The 2015 Supportive Care Needs model by Pelenstov, which defines critical needs in families with rare/undiagnosed diseases, provided a framework for interview guide development and transcript analysis (Pelentsov et al in Disabil Health J 8(4):475–491, 2015. https://doi.org/10.1016/J.DHJO.2015.03.009). A deductive, iterative coding approach was used to identify common unifying themes. Fourteen parents from 13 families were interviewed. The average child’s age was 11 years (range 3–18) and an average 63% of their life had been spent searching for a diagnosis. Our analysis found that alignment or misalignment of parent and child needs impact the trajectory of the diagnostic search. When needs and desires align, reevaluation of a decision to pursue a diagnosis is limited. However, when there is conflict between parent and child desires, there is reevaluation, and often a pause, in the search. This tension is exacerbated when children are adolescents and attempting to balance their dependence on parents for medical care with a natural desire for independence. Our results provide novel insights into the roles of adolescents in the diagnostic odyssey. The tension between desired and realistic developmental outcomes for parents and adolescents impacts if, and how, the search for a diagnosis progresses.