For Families of Children With Life-Limiting Metabolic Diseases, End-of-Life Planning Is Key

A majority of the data available on children with life-limiting conditions (LLCs) who need palliative care focus on children with cancer. However, the majority of children with LLCs have other diagnoses, such as genetic conditions or metabolic diseases, and data on this population are few.

A study newly published in the Orphanet Journal of Rare Diseases sought to determine how many children are affected by incurable metabolic diseases and to analyze palliative care in this group. The study was conducted in a single center in Germany, where all children with LLCs are guaranteed palliative care.

The researchers found that between 2013 and 2016, of the 198 children receiving palliative care in the center, 29 (14.6%) had metabolic diseases (including lysosomal storage diseases, fatty acid disorders, mitochondrial diseases, and methionine metabolism disorders, among others).

The symptom burden for these patients was high, and it remained high throughout care. For the 24 children with metabolic diseases for whom the researchers were able to analyze data on the first 30 days of care, gastrointestinal, respiratory, and neurologic symptoms were the most common. In total, 12 of these patients had unplanned hospital readmissions at least once during care. Comparing children referred to palliative care at less than 1 year of age with those referred after age 10, younger children had a shorter period of care and died at a younger age.

The researchers report that, during advance planning, it was difficult for patients’ parents to limit life-extending care; more than one-third of all parents (37.8%) opted for the full range of life-extending measures for their children during initial discussions. Only 4 parents requested a do-not-resuscitate order, and 14 requested more conservative life-support measures, such as ventilation support or antibiotics.

Notably, in contrast to previous reports on palliative care in children, in which most children died at home, most of the children who died during the study period died in the hospital or in the intensive care unit. In fact, some of the children died while receiving interventions, such as the placement of a percutaneous endoscopic gastrostomy tube.

Therefore, the authors conclude, discussions of life-extending measures and the preferred place of death are of particular importance in this patient population, and these discussions should be given greater attention in the advance care planning period.

Reference

Hoell JI, Warfsmann J, Distelmaier F, Borkhardt A, Janßen G, Kuhlen M. Challenges of palliative care in children with inborn metabolic diseases [published online July 9, 2018.] Orphanet J Rare Dis. doi: 10.1186/s13023-018-0868-5.