Discussion
Interviews with fourteen parents of children with undiagnosed diseases at various stages of their diagnostic journey helped to understand motivating factors for “why” families continue to search for a diagnosis after years of inconclusive testing. As a child matures, differences between parent and child opinions about the diagnostic search may conflict, often serving as a re-evaluation point for family decision-making of whether to continue the odyssey. Parent(s) and adolescent may have differing views of the obtainability of a child’s autonomy, and the idea of whether to keep future options open or take a more “realistic” approach can create inter-familial tension. Additionally, the innate parental drive may encourage families to continue a search, but this parental drive is tempered by the emerging voice of the adolescent. Whether and how the family incorporates the developing independent voice of the child will change the way decision-making regarding the odyssey occurs within the parent/child dyad (triad). These factors work in combination to help families decide whether, and when, they should continue to search for a diagnosis.
The developing strength of the child’s voice, through the eyes of the parent, was a major theme as both a motivator and barrier of the diagnostic odyssey. The way in which parents discussed their children, most in their adolescent years, shed unique light on how the parent/child tension impacts the decision to continue the odyssey. Adolescence is often thought of as the second individualization crisis, and involves multiple physical, psychological, sexual, and social changes [
16,
18,
22]. It is normal and anticipated that children at this age are starting to want autonomy and independence from their parents, but when a child has complex medical needs and depends on their parents for critical medical care, there is an additional layer of tension between the parents and adolescent. The adolescent may feel ready to create distance between themself and their parents, moving towards independence and taking charge of their own medical care, but this may not always be realistic or feasible in children with rare/complex conditions.
The parental narrative emphasized the emerging voice of their child, highlighting the dynamic balance between parental and child opinions on a medical journey. Parent participants emphasized that their child’s voice is not replacing theirs; rather, there is a need to incorporate one into the other to determine the best path forward for the family. A major difference between the parental and child’s experience is the distinction between an odyssey and a journey. The children, moving from following their parents’ direction to making decisions about their own medical experience and forming individualized opinions, are on a journey: a passage or process from one stage to another [
23]. The parents, having navigated their child’s medical experience for an extended period of time often with multiple notable decisions and possible hardships, have moved from being on a diagnostic journey to a diagnostic odyssey [
24,
25]. This distinction helps clarify why adolescence can be a point of reinvigoration or a cessation of searching; children are now driving their own search as they make sense of their diagnostic journey.
Keeping a child’s future options open until they reach an age of autonomy to make their own decisions, an “open future”, is not always realistic for an individual with complex medical needs and differences in expectations can create tension between parent and child. Participants in this study highlighted the tension between their opinions and their child’s, giving examples such as the child’s desire for romantic relationships, plans for higher education, and career goals. When complex medical needs are involved, the adolescent’s plans may not be possible or may conflict with what parents perceive as realistic [
16‐
18]. The idea of an open future may still exist for an adolescent who is earlier in their medical journey and has not yet fully understood their limitations. This can lead to additional levels of tension when the parents know that their child’s imagined future may not be plausible. These tensions can be further exacerbated when an individual does not have a formal diagnosis and their prognosis is unknown, leading many parents to continue the search for a diagnosis to better support their children in “realistic” plans for their future.
Parents must balance continuing the diagnostic odyssey with whether to allow their child to take control of medical decision-making. Allowing the child to have more input allows for greater autonomy but can potentially seem like a pause or a step backwards in the parents’ diagnostic odyssey timeline. Our novel insight into the relationships between parent and child revealed that as time passes in the diagnostic odyssey, parents may shift their mindset about the goal of their odyssey, from working towards a diagnosis to understanding how to help their child live their best, most fulfilling life. Simultaneously as parents are moving towards acceptance of having their child remain undiagnosed, the child matures and moves towards adolescence and adulthood, often forming their own opinions about pursuing a diagnosis. The child will experience emotional aspects of the diagnostic odyssey that their parents experienced years before; both parents and child are experiencing similar thoughts and transitions about the diagnostic odyssey but are experiencing them years apart.
It is important for both families and healthcare professions to understand that the decision about whether to continue a diagnostic odyssey is not static; it is expected to be dynamic and constantly evolving. The child’s journey may follow a different trajectory than the parent’s, creating multi-dimensional levels of tension between them. These tensions can cause conflict and stress, but also help a family make important decisions about the continuation of a diagnostic odyssey. This tension exists both internally (within a parent’s own thoughts and emotions) and externally (between parent and child). It also transpires across multiple domains, including the shifting drive of parental duty, the child’s potentially unobtainable desire for autonomy, and managing the child’s idea of an open future. These interviews brought to light how the milestone of adolescence can be a “check point” for a family to reevaluate whether to continue the diagnostic odyssey. At this check point, adolescent voices are emerging and may change the trajectory of the family’s odyssey. It is crucial that healthcare providers, such as genetic counselors, understand both patients’ and parents’ motivations driving their desire to continue or halt the diagnostic odyssey to best support a family’s decision-making process and provide appropriate patient-centered care. Revisiting conversations that may have been had years prior, such as why a family desires a diagnosis, may be helpful at this stage and may help a family understand how to incorporate opinions that previously did not have a voice into decision-making. A decision to stop the diagnostic odyssey made when the child was five years old may be reconsidered years later, when the child wants their voice and opinion to be heard.
Acknowledgements
We thank the families from the Undiagnosed Disease Network through the National Institutes of Health who participated in this study. We also thank the UDN-affiliated contributors: Maria T. Acosta, Margaret Adam, David R. Adams, Pankaj B. Agrawal, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D'Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell'Angelica, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Laurie C. Findley, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Madison P. Goldrich, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Yong Huang, Alden Huang, Laryssa Huryn, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Lefkothea Karaviti, Jennifer Kennedy, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Lea Latham, Kimberly LeBlanc, Brendan H.Lee, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, John MacDowall, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Rachel Mahoney, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martfnez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Paolo Moretti, Deborah Mosbrook-Davis, John J. Mulvihill, Mariko Nakano-Okuno, Avi Nath, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Bradley Power, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Deepak A. Rao, Anna Raper, Wendy Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Rebecca H. Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Queenie K.-G. Tan, Amelia L. M. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Audrey Thurm, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Jeremy D. Woods, Kim Worley, Shinya Yamamoto, John Yang, Muhammad Yousef, Diane B. Zastrow, Wadih Zein, Zhe Zhang, Chunli Zhao, Stephan Zuchner.