Abstract
Abstract
Pediatric palliative care providers often care for children with rare, poorly understood diseases. In addition to grappling with a life-limiting diagnosis, families face complexity in decision making stemming from the prognostic uncertainty surrounding their child's rare condition. We discuss several unique challenges, illustrated through case studies of three children who shared the rare diagnosis of congenital disorder of glycosylation.
Introduction
P
CDG comprises a family of disorders of protein and lipid glycosylation, of which almost 50 types have been identified. 1 Because glycosylation occurs throughout the body, CDG can affect any or all organ systems. 2 The severity varies widely, from mild developmental delay to death in infancy. The most common type, diagnosed in ∼700 children, including our 3 patients, is phosphomannomutase 2 deficiency, also known as CDG Ia. Manifestations include central nervous system defects, feeding intolerance, dysmorphisms, cardiomyopathy, and liver dysfunction.2–5 Patients often develop fluid accumulations, including ascites and pericardial effusions. 4 Although some survive to adulthood, 20% of affected individuals die in the first year of life. 5
In this brief report, we describe three cases to illustrate themes that emerge when providing palliative care for children with rare diseases. The parents of each patient gave permission for their child's name and story to be shared.
Cases
Case 1
Christopher was born full term with no complications. He was hospitalized several times for failure to thrive, and underwent gastrostomy tube (G-tube) placement at 11 months of age. Further evaluation showed developmental delay, hypotonia, vision loss, Dandy–Walker malformation with hypoplastic cerebellum, hepatomegaly, and cardiomyopathy. The presumptive diagnosis of CDG type Ia was confirmed with genetic testing.
At 15 months of age, Christopher was hospitalized for respiratory distress in the setting of significant ascites. Laboratory evaluation showed worsening transaminitis and hypoalbuminemia, and paracentesis showed fluid consistent with a noninfectious, serous effusion. The ascites reaccumulated within 24 hours of drainage.
Christopher had been in foster care since one year of age. Although his legal decision makers were the county youth services, his biologic parents remained active in his medical care, and his mother was present throughout this hospitalization.
Given Christopher's poor prognosis, persistent ascites, and the risks associated with repeated paracenteses, the palliative care team met Christopher and his family to help with decision-making support. After several family meetings with Christopher's parents and county-appointed caseworkers, Christopher's primary team, the palliative care team, and metabolism and gastroenterology experts, Christopher's parents agreed with a recommendation to stop paracenteses and focus on comfort-directed therapies. This decision required multilevel discussions with the youth services agency leadership that ultimately led to the agency's support of Christopher's parents' decision, including a do-not-resuscitate order.
Given the complex custody arrangement, Christopher remained inpatient for end-of-life care, which allowed his parents unrestricted visitation. No further invasive procedures were performed. G-tube feeds were continued until they became uncomfortable. Pain, agitation, and dyspnea were treated with enteral morphine and lorazepam. Christopher died peacefully in his mother's arms after 18 days of hospitalization.
Case 2
Phillip was born full term, but required emergent treatment for hypoglycemia. His examination was notable for multiple dysmorphisms. He had polycythemia, thrombocytopenia, and fulminant hepatic dysfunction. Further evaluation revealed cardiomegaly with a small pericardial effusion and abnormal brain MRI with hypoplastic cerebellum. Given these findings, a CDG was suspected and confirmed by five weeks of life.
Palliative care consultation was obtained at three weeks of life. With the neonatal onset of Phillip's disease, the metabolism experts suspected he would have a very severe form, with complications including feeding intolerance, infections, thromboses, and poor neurocognitive development.
At eight weeks of life, Phillip's pericardial effusion worsened, leading to tamponade physiology. A family meeting was convened with the NICU, cardiology, metabolism, and palliative care teams. The options to manage Phillip's effusion included pericardiocentesis, aggressive medical management, or comfort-directed therapies. Metabolism experts shared their experience that most children with CDG and effusions have recurrent reaccumulation of fluid despite intermittent drainage. Because pericardiocentesis would not resolve the underlying problem, Phillip's parents asked to focus on Phillip's comfort and minimize interventions. They asked that Phillip remain inpatient for end-of-life care. He slowly developed worsening respiratory distress, which was treated with enteral morphine and lorazepam. He died peacefully at 10.5 weeks of life.
Case 3
Adina, the fourth child of Orthodox Jewish parents, was born full term. At three months of age, she was admitted for vomiting and poor weight gain. Her physical examination was significant for poor vision, hepatomegaly, and hypotonia. Echocardiogram showed cardiomyopathy and brain MRI showed cerebellar volume loss. CDG type Ia was confirmed by genetic testing. A G-tube was placed and she was discharged after adequate weight gain.
Shortly after discharge, Adina developed septic shock, and she required invasive mechanical ventilation for life-sustaining support. She recovered to extubation, but given her overall decline, the palliative care team was consulted to help the family establish goals of care.
After six weeks of hospitalization, at five months of age, Adina developed a large pericardial effusion with tamponade physiology. A pericardial drain was placed emergently. However, she continued to be at high risk for ongoing pericardial effusions. Several family meetings were held to discuss the risks and benefits of an in-dwelling pericardial drain. At the request of Adina's parents, the metabolic specialist discussed her case with the family's rabbi, who expressed that aggressive interventions would only be appropriate in cases of reversible events in which recovery was possible.
Shortly after this discussion, Adina developed a tunnel site infection associated with the pericardial drain. In addition to a prolonged course of antibiotics, the drain would need to be completely removed to allow the site to heal. The surgical interventions proposed to manage the pericardial effusion were not optimal.
During this time, Adina also developed progressive anasarca. With the support of the palliative care team and the family's rabbi, Adina's parents chose to focus interventions toward providing comfort. When the pericardial drain became a source of pain, her parents elected to have it removed. Adina's symptoms were managed with a morphine infusion and intermittent doses of ketorolac and lorazepam. She died in her parents' arms one week after removal of the drain.
Discussion
Despite similar diagnoses and outcomes, these three cases highlighted unique challenges in the medical, psychosocial, and spiritual realms. Their temporal proximity of presentation allowed our team to reflect on common elements and distinctive challenges. Hereunder, we discuss three pertinent themes.
(1) Decision making as a dynamic process
Decision making is often conceptualized as binary, in which families are asked to choose between therapeutic and palliative approaches at one time point. However, in most cases, decision making is dynamic and evolutionary. The therapeutic and palliative mindset can be intertwined for families even as end of life approaches. For each family, decision making was not a single act; each diagnostic test, intervention, or medication was delicately considered based on its potential to help versus potential to harm. Each family struggled with feeling like they were “giving up” if they elected not to pursue an intervention. We found it helpful to frame both intervening (“doing something”) and choosing not to intervene (“doing nothing”) as active decisions. For example, when discussing the intermittent peritoneal drainage for Christopher, we discussed the option of continuing drainage because of the hope that it may help Christopher live longer versus protecting him from repeated interventions that would likely be painful, given his overall limited prognosis. This reinforced that the choice to withhold an intervention was as strong an act of parental protection as choosing to intervene. Choosing to withdraw an intervention that is already in place can carry a different weight for families than withholding an intervention that has yet to be implemented. Adina's parents struggled with the question of whether to remove the pericardial drain once it was placed, although they had already decided against intubating her if her respiratory function became compromised. It is important for families to hear that the withdrawal of an intervention that is no longer achieving its goal is as loving and ethical a choice as prospectively protecting against an intervention.
Given the complexity inherent in these decisions, it is important to recognize that they take time. There is often an artificial sense of rush in the hospital, and providers may become frustrated when their desire for global limitations of intervention is met with families' desire to make each decision step wise. The palliative care team plays an important role in advocating for time and giving families the information they need at each point to move forward in their decision making.
(2) The challenge of providing palliative care in the face of uncertainty
One of our most crucial roles as palliative care providers is to help families gain a better understanding of their child's condition and prognosis. Families look to us to tell them what they should expect and what we are worried about. They take solace in the fact that we have experience in working with similar patients. In addition, many families seek support by finding a community of families dealing with a similar diagnosis, something that is now much more commonplace in the age of social media. When a child has a rare or uncertain diagnosis, these typical supports become challenged. Our already limited ability to predict a clinical course becomes even weaker. Families often report feeling isolated, with additional challenges explaining their child's condition to friends and family. It is imperative that palliative care teams acknowledge and normalize the uncertainty that both families and medical providers experience in the face of rare disease. In caring for these three families, we found that acknowledging the frustration of uncertainty helped them to cope and shift their focus from the unanswerable to the questions that had to be answered with the limited information available at the time.
(3) The necessity of the comprehensive psychosocial–spiritual assessment and intervention
These three families each needed something very different from the palliative care team. To be most helpful, we met them with no agenda, and discovered together what their needs were and how we could best help. Particularly for Adina, we learned early on that religion would play a key role. Without a strong partnership with this family's religious leader, we likely would have been unsuccessful in providing support. For Christopher, our team was successful because of our ability to recognize the diverse needs of multiple stakeholders, each with a strong interest in Christopher's well-being and a desire to participate in his end-of-life care. Finally, for Phillip, whose parents aligned with data-driven decisions, we provided highly detailed information at every stage. For several of these children, family members were unable to remain at bedside continuously throughout the long hospitalization. Our team played a role in allowing families to take the space they needed to continue to care for life outside of the hospital, without fear of judgment or abandonment. Ultimately, although the process was different for each family, they each made empowered decisions reflective of their desire to promote their child's comfort and dignity and to protect them from needless suffering.
Footnotes
Author Disclosure Statement
No competing financial interests exist.