Regarding trisomy 18

The report of trisomy 18 in a 20-year-old woman [Kelly et al., 2002] is of interest. Unfortunately, the principal lessons to be learned from it are not well crystallized by the authors. We have known a patient with similar clinical history (Fig. 1), who also illustrated unusual longevity. A photograph at age 25 was published as “C” in Figure 30.21 in McClatchey 2002. She lived for 27 years and 5 months, in the face of severe disabilities, due largely to the unwavering solicitude of her mother, but also due to the collaboration of a medical/nursing team committed to patient/family autonomy and psychological support. Female with trisomy 18, celebrating her 10th birthday. She lived 27 years and 5 months. Such autonomy extends not only to tenacious assertiveness for full treatment, but also to willingness for withdrawal of support when a judgment of futility is reached. As the authors acknowledge, prognosis for trisomy 18 is very poor, with a large majority of affected individuals dead before the first birth anniversary. They also make clear their appreciation that those few who do survive for a decade or more are neither ambulatory nor significantly verbal; they grow poorly and are chronically ill. Appropriate counseling for families facing the prenatal or neonatal diagnosis of trisomy 18 must include the poor overall prognosis, and we fully agree that it must also include recognition of the small minority of affected persons who live many years. However, we disagree with the authors in some of their concluding assertions. Kelly et al. 2002 state that “Parents must be advised to seek medical attention when their child becomes febrile.” Reading such a remark, parents whose child has already died early due to overwhelming sepsis may experience guilt and/or anger because providers encouraged them to “let go” and did not urge them to call about a fever. The decision for “no code” status does not always include foregoing antibiotic therapy for infections, but it sometimes extends that far; such an extension is appropriate and reasonable in this clinical setting. It simply is not true that “audiologic evaluation is necessary” (our italics) just because hearing deficits are common in the small group of survivors, or that risk for kyphoscoliosis makes “orthopedic consults … necessary” (our italics). Exceedingly poor prognosis should always be foremost in discussions about the appropriateness of interventions that may be expensive and/or uncomfortable, but have dubious benefits. Parents' complex decisions must be appreciated in the full context of the entire family's pain and suffering when confronted by the trisomy 18 phenotype and prognosis. We ought always to maximize information for parents experiencing the tragedy of a syndrome that shortens life and compromises its quality. It is just as important that we maintain a balanced and realistic stance, honor parents' wishes and perspective, and respond appropriately to the demands of “primum non nocere.” The opinions of Carey 1992 and Van Dyke and Allen 1990, cited by Kelly et al. 2002, are notable for a subtly nuanced emphasis on psychosocial support for families in complex decisions with anticipatory grieving and other complicating factors. We do not think that Kelly et al. 2002 have adequately adapted that subtlety to their comments about medical care for the surviving affected person.