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Helping Parents Re-Write Their Story When the Diagnosis is Unknown

September 14, 2023

Editor’s Note: Dr. Krista Roncone is a third-year resident physician in pediatrics at the University of Virginia. She is interested in medical education and health disparities research, and is planning to specialize in pediatric critical care. -Rachel Y. Moon, MD, Associate Editor, Digital Media, Pediatrics

As I come to the final chapter of my pediatric residency, now more than ever I recognize what my medical training has attempted to prepare me for—not the moments when I can identify and elect the “correct” answer or action in a patient scenario, but rather when I can tread through depths of uncertainty with the appropriate tools. While I am learning to provide concrete knowledge and information to patients and families, I am also developing the skill set necessary to walk alongside them as they experience each new page turn in a story no one ever anticipated having to tell.

Perhaps one of the most unnerving uncertainties a physician can face is an absence of diagnosis in the face of potential death or end of life care. Dr. Giulia Fiason and colleagues from Loma Linda University, University of California-Irvine, Children’s Hospital of Philadelphia, and the Université de Montréal, in an Ethics Rounds that is being early released in Pediatrics, entitled, ‘When the Unknown is Unknowable: Confronting Diagnostic Uncertainty offer the novel argument that diagnostic uncertainty does not necessarily equate to prognostic uncertainty (10.1542/peds.2023-061193).

The authors distinguish:

  • Aleatory uncertainty: defined as the knowable unknown, from
  • Epistemic uncertainty: defined as the unknowable unknown.

As the authors point out, most medical literature targets aleatory uncertainty by attempting to define probabilities of the knowable unknown. To this extent, we have learned to grow comfortable with a measured amount of discomfort. Epistemic uncertainty, however, is unlike its counterpart and is greeted with a much different quality of intellectual and emotional discomfort.

How do we navigate the unknowable unknown?

In this Ethics Rounds, the authors present a case of a newborn with an unknown diagnosis, but with grave end-point physiology comprising of hemorrhagic shock and its consequences. The authors make the case that, in situations in which a diagnosis is unknown, a lack of diagnosis should not necessarily hinder our ability to prognosticate, and more importantly, should not hinder our ability to guide families through an unspeakably difficult experience.

The authors emphasize that in these situations where we have a lack of citations to reference, we must instead reference parental values and trust.

Additionally, two authors share their different perspectives about this case. 

Dr. Chris Feudtner, a palliative care physician and medical ethicist at the Children’s Hospital of Philadelphia, employs a corollary of false-positive and false-negative statistical principles to guide us through why a diagnosis is not obligatory for prognosis. As a resident interested in critical care, I appreciated how Dr. Feudtner provided a script of his potential discussion with the family in the case, highlighting key moments where he would take strategic pauses and leave blank space for family response, questions, or emotions.

Dr. Annie Janvier from the Université de Montréal offers expertise, not only as a neonatologist and ethicist, but also as a parent. Dr. Janvier emphasizes that, particularly in end-of-life care, the role of the physician is to “help [parents] re-write their story”. We are the fated co-authors of a story that no one wanted to write, and we create a memory for a family that they will have to live with forever. We have the immense privilege and responsibility of making the story as healing and bearable for them as we can. At times a formal diagnosis is part of this complicated narrative, but perhaps it is not as necessary to a family’s grieving process as we might think.

Dr. Janvier also puts name to a concept I do not often see touched on, which is that of injustice. We regularly touch on the sentiments of grief, sadness, anger, and confusion as it pertains to death or poor outcomes, but we less frequently acknowledge feeling the absence of justice. There is no justice when a child dies. As a resident, I have struggled with grief and sadness that comes with the loss of a patient, but I find what keeps me from sleeping or focusing on my day-to-day life is the incommunicable sense of injustice. Seeing this articulated in this article was validating.

Please read this important article. I hope you will hang on to every word in the way that I did, or potentially incorporate this case and discussion as a tool for medical education and further discussion.

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