Diagnostic Uncertainty and Continuity in Pediatric Oncology: A Caregiver's Perspective

Abstract

When my nephew, a 12-year-old boy with T-cell lymphoblastic lymphoma, passed away, it exposed the tension between clinical optimism and the unpredictable course of oncologic disease. A series of clinical emergencies (overlooked appendicolith, life-threatening infections, thrombotic complications, and an isolated central nervous system relapse) contributed to a deteriorating clinical course. These progressive crises were devastating and highlighted key vulnerabilities in medical team communication around diagnostic uncertainty and in transitions of care among rotating oncologists. Beyond the personal tragedy, this experience also revealed institutional areas for improvement in clinical practice. Drawing on both lived experience and a systems perspective, this caregiver reflection highlights opportunities to strengthen communication, coordination, and trust in pediatric oncology, with implications for both patient outcomes and clinical practice.

Introduction

Pediatric cancer care is usually guided by well-established protocols, yet the reality for families can be very different. I witnessed this collision directly as the caregiver of a 12-year-old boy with T-cell lymphoblastic lymphoma (T-LBL). T-LBL is a rare, aggressive form of non-Hodgkin lymphoma. Modern treatment regimens report survival rates of 80% to 90% in pediatric cases. ¹ At initial diagnosis, my nephew showed no evidence of central nervous system (CNS) involvement, and his early response to treatment offered us hope. He began his first chemotherapy course and showed improvement after four weeks. After he finished his initial treatment, our family decided to continue his care at a specialized pediatric oncology center abroad, where he could receive care that was not available locally. Within a few days of arrival, he developed a fever, and shortly afterward he required an appendectomy for an appendicolith that had not been addressed earlier. His course then took an unexpected turn, with severe infectious episodes, thrombotic complications, and major lapses in continuity of care. For our family, it became a crisis that seemed to have no end.

Perspectives

Diagnostic Uncertainty

The first indication that his clinical course would become more complicated appeared at diagnosis, when an appendicolith shown on his initial imaging was not reported. When those images were subsequently reviewed at the receiving hospital, the appendicolith was described as large but without radiologic evidence of appendicitis, which contributed to the decision not to pursue immediate intervention. However, this assessment was not communicated to the family.

After arriving abroad, he was seen by his oncologist, who discussed a curative-intent treatment plan in line with standard acute lymphoblastic leukemia (ALL)/T-LBL protocols. The consent form described approximately two years of chemotherapy.

The following day, he developed a fever and was admitted for evaluation. As he was being prepared for discharge, the results of a repeat CT scan became available, again identifying the appendicolith, with increased fluid dilation of the mid and distal appendix up to 8 mm. The report recommended correlation with clinical findings, including physical examination and patient symptoms. This finding was communicated by phone to another physician but was not shared with the family, and he was discharged. He returned two days later in excruciating abdominal pain, and only then was surgery performed.

In a later conversation about these events, his oncologist recalled reviewing the imaging with radiology and noted, “that's a big appendicolith … it doesn’t seem to be causing any problem now, but it will.” Although it had been recognized, its potential consequences were not communicated to us at the time of his diagnosis, and no anticipatory guidance was provided about how it may complicate future treatment.

Once he completed his first chemotherapy course, which had shown a strong initial response, he was scheduled for his first post-treatment lumbar puncture shortly after arriving abroad. However, the procedure was postponed for a week to allow time to recover from the appendectomy. At diagnosis, we were reassured by the absence of CNS involvement. When the lumbar puncture was finally performed one week after surgery and before the second treatment course began, it showed an isolated CNS relapse without marrow disease. This was a rare pattern that has only been reported once in a published case of T-LBL. ² From a caregiver perspective, this experience illustrated how clinical attention may narrow when managing a complex malignancy. Early imaging findings outside the primary oncologic focus, such as the appendicolith, received less attention as the clinical priority centered on the lymphoma and pleural effusion. While that focus is understandable in aggressive cancer care, it highlighted the need to revisit non-oncologic findings systematically, especially when immunosuppressive therapy is planned. For families, not having an early discussion about how such findings might evolve during treatment added to uncertainty and risk.

Escalating Crisis

When the CNS relapse was confirmed, his oncologist explained that his treatment regimen needed to be changed to a very intense form of chemotherapy that is commonly used for relapsed T-LBL. It is one of the most intense chemotherapy regimens that can be administered to patients. However, the nature of his disease made aggressive treatment necessary. His oncologist noted that the relapse was unexpected, as he had been responding well, and such an early CNS recurrence without marrow involvement was extremely rare. The change in diagnosis altered both his treatment plan and the overall prognosis, creating a tremendous amount of uncertainty for our family.

In the days that followed, his temperature continued to exceed 40 °C, and the use of antibiotics to treat the infection did not result in improvement. His strength began to fade, and then tremors appeared. Delirium soon set in, resulting in hallucinations and talking to imaginary people. In a short time, he deteriorated into septic shock, requiring intubation and hemodynamic support. During a visit, the oncologist tried to explain the complexity of what we were witnessing. He described it as “convergent syndrome,” referring to a condition arising from a combination of treatment toxicities, the effects of the underlying malignancy, and opportunistic complications. Blood cultures did not identify any microorganisms that could account for the eventual multi-organ failure.

Communication Breakdown and Medical Uncertainty

Differences in how information was received led to an extreme level of confusion. Every week there was a new clinical team with a different emphasis, and with it, another explanation. Prior to his intubation, we were led to believe it was some type of infectious febrile illness. ³ After he was intubated, the team began to discuss possible toxic reactions from the chemotherapy he was receiving. ⁴ Shortly thereafter, they determined that disease progression was a third possible explanation for his clinical deterioration. Ultimately, he developed multi-organ failure. Although the possible diagnoses were rapidly changing, they were communicated to the family sequentially and without integration, making it difficult to understand the relationship between the evolving issues or the cause of his rapid decline. As such, the uncertainty surrounding his clinical condition was also evident in the medical record, which stated that it was “not possible to clearly distinguish between infectious and lymphoma in the liver” during his clinical deterioration.

As his neurological status deteriorated, his liver enzyme levels also increased dramatically. Chemotherapy was continued even though he experienced several days of persistent fever and hallucinations. Unfortunately, his oncologist was absent from the hospital during the most critical days, leaving us without a consistent point of contact to address our growing concerns or provide us with explanations about how treatment decisions were being made. As a result, we found ourselves trying to understand symptoms that were changing faster than the information reaching us.

It was only later that this level of distress appeared in the medical record, which noted that the

family expressed a significant amount of frustration for care provided by the Oncology team over the past several weeks, especially focused on the timing that certain interventions were delivered/not performed. They are also very frustrated by the rotation of doctors and teams and feel that continuity in his care is lacking, but are happy with the ICU care at this time.

On the other hand, the intensive care unit (ICU) provided a much steadier communication model. They reported their observations, current findings, and possible outcomes. While families do not expect certainty, they do need consistency and clarity about what is happening around them. Studies indicate that fragmented communication and lack of continuity are primary reasons caregivers experience distress and the erosion of trust.^5,6 The ICU's consistent communication provided the stability we needed, while the oncology rotations left us feeling lost.

Emotional Experience of the Family

Time no longer held its usual meaning. Finding a blood clot in his brain was an impossible dilemma. He needed urgent anticoagulation within 24 to 48 hours, and such treatment carried significant risks. On the other hand, initiating anticoagulation meant that chemotherapy could not be safely administered to the brain. We found ourselves in a clinical stalemate; every intervention seemed prohibitive. As a family, we continued to move forward, though we felt powerless, exhausted, and scared. Such experiences place a heavy emotional burden on patients and families, not only through the suffering of a loved one but also through gaps in communication with healthcare providers. Research has shown that this burden can be deeply devastating.^6,7

System Strain

The combined complications of a serious infection, a thrombotic complication, appendicitis, and respiratory distress were overwhelming. These problems were handled by the medical staff as separate situations. It felt like he was being declining bit by bit, and we could barely process the effects of one crisis before being pushed into the next.

During this period, his care involved several teams from oncology, surgery, intensive care, and bedside nursing, but it was not clear who was responsible for guiding the overall plan or making decisions. Supportive services such as dietitians and nurse practitioners were involved earlier in his admission, but their attention was mainly focused on particular needs rather than his overall decline. Emotional and family support services, including social work, became involved only after his condition was already critical.

This lack of coordination created a sense that, while each issue was being addressed, his increasing vulnerability was not being recognized. The system struggled to respond as his medical problems began to overlap, showing how the illness and the effects of treatment can interact in ways that fall outside usual care protocols.

Recommendations

One of the most important principles of care for complex cases is direct communication about uncertainty. Physicians should clearly explain what is known, what is being monitored, and which signs would cause escalation, as honest framing of uncertainty has been shown to improve trust and reduce caregiver distress.^8,9 For instance, instead of saying “we are not sure what is happening,” clinicians might say, “here are the possibilities we are monitoring, and here is what would prompt us to take the next step,” which provides clarity without promising certainty.

Another important factor is continuity of contact. Staffing gaps often create shifting interpretations, leaving families confused and struggling to follow the story. A consistent physician or nurse coordinator could help provide stability despite the rotation of many staff members, reducing at least some of the confusion. In addition, a brief daily summary or handover meeting with families can help maintain consistent communication across rotating teams and prevent the fragmentation we experienced.

Furthermore, systems should ensure that all clinically relevant findings outside the primary oncologic focus, such as incidental or secondary findings on imaging, are evaluated, monitored, and communicated to family members before initiating immunosuppressive therapy. When these findings are recognized and their implications are explained, the risk of avoidable complications may be reduced.

Early involvement of care coordination and psychosocial support services, such as social workers and palliative care specialists, should occur during clinical instability rather than waiting for moments of irreversible decline.

Similarly, effective contingency planning is crucial for complex treatment-related decisions when primary clinicians are unavailable. Clear coverage plans and defined escalation pathways help maintain timely, coordinated decisions and consistent communication. Families should be informed early that complications can arise even in complex clinical situations, emphasizing that discussing potential outcomes is about preparedness, not prediction.

Moreover, nursing support for caregivers plays an important role in the overall care process. ¹⁰ This includes emotional recognition, clear information, and decision support, particularly in the context of conflicting treatment decisions.

Taken together, these strategies can reduce the burden on caregivers and help build a stronger, more trusting relationship with the care team.

Conclusion

This was an exceptionally rare case, but the lessons learned from it extend beyond its specific clinical circumstances. The experience of care is often shaped not only by diagnostic uncertainty but also by gaps in communication and fragmented information as patients move between teams.

Caregiver perspectives can play an important role in highlighting these gaps and in fostering greater openness and trust between families and clinicians. Even rare cases can drive systems change. Examining them alongside more common clinical experiences can help guide healthcare toward its ultimate goal of not only treating disease but also supporting patients and families through coordinated and compassionate care.