Today, we see numbers of children born with congenital anomalies and those who develop serious, life-threatening genetic illnesses despite advances in prevention, screening, and treatment developed over the past century. The questions surrounding the quality of life for these children and their families have generated debate. New discussions of how best to support these families have gathered parents, nurses, other healthcare professionals, lawmakers, policymakers, and philosophers to search for answers.

The common worldview is that children should and will outlive their parents. Sadly, this is not always the case. Parents of children with genetic conditions may need to participate in decisions regarding their child’s dying. For family members, neighbors, healthcare providers, and society the dialog regarding decisions to forego therapeutics that would prolong life is challenging. During these difficult times, nurses are in key roles to provide information, anticipatory guidance, and comfort, and to
be present with families. Nightingale believed that nursing is care of patients and of the environments of care. These environments include acute and critical care, home, schools, group homes, long-term care and rehabilitation facilities, and hospices. Nurses provide clinical care as well as leadership in facilitating the development of formal and informal guiding principles and infrastructures for making decisions.

Nurses provide care to families who are at different developmental stages when faced with a child’s condition incompatible with prolonged or quality life. Decisions may need to be made prior to birth, when the condition is identified by prenatal screening, or during their child’s infancy, childhood, adolescence, or adulthood. The context of care varies depending on the setting, severity of illness, genetic condition, professionals involved, and differing social, political, spiritual, and ethical backgrounds. Families may interface with one key professional, a clinical team they have known for years, or a lead representative of a bioethical committee they’re meeting with for the first time. They may find themselves leading the establishment of end-of-life care plans with staff from the hospital, school, emergency medical teams, or long-term care facility. Decisions may be made with or without considerations of faith, and in the presence or absence of religious or spiritual support systems. Different criteria for describing their child’s condition and future quality of life may be presented by health professionals or these discussions may take place away from families. Policies, guidelines, and protocols for withholding or withdrawing treatments and technology may be in place or there may be a need for guidelines for individual situations and environments.

Rather than providing answers, this chapter will examine guiding principles and reference selected literature that illustrates current policies; a single case scenario would be extremely limiting. Other topics include:

The scope of content is this chapter will be limited to genetic conditions that are thought to be lethal, have progressed, or have a changing prognosis incompatible with prolonged quality of life. With growing knowledge of genomic issues and the outcomes of illness, nurses today are even more challenged when caring for these families (Feetham, Thomson, and Hinshaw 2005).

Families, healthcare professionals, and practices in environments of care are influenced by cultural, religious, and political mores as well as scientific and editorial accounts in the literature and public press. The context of this historical review will be limited to practices in the West rather than worldwide, and primarily to events and practices in the last 50 years. Why revisit our history? Alexis de Tocqueville warned us in the 1840s about historical amnesia, an abiding weakness of democracies so focused on the excitement of the future that past experiences are forgotten (de Tocqueville, 1956). As a society and as nurses, we may need to revisit our history concerning children with profound genetic conditions, bearing in mind that this background is but one portion of our evolving clinical practice.

Congenital anomalies and selected genetic conditions with visible phenotypic deformities were once thought to be the results of magic, myths, demons, and curses (Curran and Graille 1997). Denis Diderot, the editor of the Encyclopedie (1751-1777), rationally characterized congenital anomalies apart from the understanding of the time as “monstrosities” into a lexicon where anomalies were recognized as natural occurrences. Although he demystified these “products” of life in the supplement “Monstre,” Diderot reduced individuals to their anatomical defect (Curran and Graille 1977).

Over the centuries, the arts and society have continued to use those with congenital anomalies as metaphors of subhuman, surreal, or fantastic imagery and for political ends such as to endorse the practice of institutionalization and limit financial resources and services for those affected. Genetic mapping is the newest lexicon to identify human differences and indeed may not be the last in this century. The lexicons, taxonomies, and severity of illness criteria used by healthcare professionals and society may be both an aid in making difficult decisions and a risk for “sliding down slippery slopes” where there is increasing erosion of respect for human dignity.

In the twentieth century, criteria were published that dictated practices in healthcare institutions; these continue to be debated and analyzed from a bioethics prospective. The Harvard Criteria of 1968 were devised as a rigorous means of determining and defining brain death and choices for removing life support. Neurological capacity and sensory motor potential were recognized as defining life rather than heartbeats and respirations (Farrell and Levin 1993).

Scholars continue to be concerned with the role of transplant physicians on decision-making committees that focus on the new aspects of organ transplantation and the emerging value of resuscitation and EEG (electroencephalogram) technology
(Wijdicks 2003). The committee was also praised for its diligence and foresight that led to an array of criteria in other countries. The Harvard Criteria continue to spark ongoing questions about their ethical and utilitarian goals (Wijdicks 2003). Questions continue as to whom or what new science or advances in technology might have been gained by the early decisions over the risks of those experienced by the patients and families.

A landmark article published in Great Britain influenced decisions about treatment of newborns with spina bifida to various extents worldwide. Many clinicians practicing in those years referred to these decision-making guidelines as Lorber’s Criteria, named for the physician who noted that babies born with “total paralysis of the legs, a high level of spinal cord lesion, sever kyphosis, hydrocephalus and other major malformation have a poor prognosis” (Lorber 1971). The practice was highly controversial; it drew media attention and, in some cases, legal punitive action. In the 1970s and 1980s, primarily in Europe, there were cases of newborns left untreated; they did not receive shunts for hydrocephalus and surgical closure of the myelomenigocele (Dunne, Bishop, Wright, and Menelaus 1992). Although reports of “non-aggressive treatment” are not readily available, a retrospective study of 120 infants born with open spina bifida between 1971 and 1976 in Great Britain revealed that 71 infants had adverse criteria at birth and were not treated. Of these, 90% died within six months of birth (Lorber and Salfield 1981).

Although this practice was not formally implemented in the United States, it is known in the medical community that untreated children died in the newborn period or later in long-term care facilities, or were later admitted to hospitals with advanced sequalae due to lack of surgical care. Having survived the newborn period, these children would be seen in pediatric specialty centers with large head circumferences, symptoms of chronic hydrocephalus, significant developmental delay, and in need of neurosurgical, orthopaedic, and plastic surgical repair to their spines and other increasing deformity.

In the late 1970s and early 1980s the first articles in the U.S. media appeared regarding cases that sparked the need for professional, institutional, and political policy formation. The first highly publicized case of separating twins joined at the heart included Dr. Koop as a member of the surgical team, which colored his lifelong and somewhat controversial commitment to families and the disabled (U.S. National Library of Medicine, n.d.). Newspapers reported “The twin decision: One must die so one can live… an agonizing choice; parents, doctors, rabbis in dilemma,” high-lighting the hours and weeks of discussions around ethical issues (Drake 1977). The case of “Baby Doe” in 1982 focused on the parental decision not to surgically correct the obstructed esophagus in their son born with Down syndrome, and the ensuing dilemma involved the courts and U.S. Department of Health and Human
Services regulations over withholding treatment and nutrition in medical institutions. In 1983, the case of “Baby Jane Doe,” a neonate with spina bifida, microcephaly, and hydrocephalus brought to light the erratic implementation of Lorber’s criteria in the United States and prompted further dialog on the definitions under Section 504 of the Rehabilitation Act of 1973 forbidding discrimination based on a handicap by any person or entity that receives federal funds.

The selection and allocation of medical treatment, the family’s level of participation in decisions, and the “rightful” use of societal resources were topics for the agenda. Parental rights and privacy was discussed as issues in the context of the right of the public to have access to their stories. The media reports, sensationalized or sensitive, were often superficial accounts that captured fragments of reality and tried to generalize or validate a particular point of view. In these selected cases—the conjoined twins, “Baby Doe,” and “Baby Jane Doe”—the infants died in an atmosphere of care, publicity, and uncertain policy.

Recent reports in the international press and medical journals continue to discuss the extent of euthanasia of severely ill newborns. The “Groningen Protocol,” named after a university in the Netherlands, is used for cases in which a decision is made to actively end the life of a newborn (Verhagen and Sauer 2005). There are five criteria in this protocol:

Issues include defining infant suffering, policymaking and political agendas, the need for honest reporting, and media references to such notorious figures as Doctors Jack Kevorkian (an American physician who has championed a terminal patient’s right to die via physician assistance; known as Dr. Death) and Josef Mengele (a German SS officer and physician in Nazi concentration camps who supervised human experimentation without consent; known as the Angel of Death).

The hesitancy of the research and clinical community to develop health status measures for spina bifida and other genetic conditions may be based in our historic experience where treatment and resource allocations were based on prognosis (Leger 2005). Scores for severity of illness and prognostic measures for most genetic conditions do not exist. Even if developed, severity-of-illness scores and quality-of-life criteria are dependent on the sophistication, stability, and sensitivity of the measures
used. Often families do not have this information or it is not readily understood. Clinical information for today’s decision making consists of laboratory tests of genotyping, blood levels for different disease states (e.g., renal failure), diagnostic imaging that reveals profound neurological or other life-threatening conditions, and pulmonary and other critical organ function tests. These measures and parameters each have their own strengths and limitations when providing guidelines for families and professionals in decisions about withholding or withdrawing life-sustaining technology, and they are only one part of the algorithm. Bioethical debates continue in peer-reviewed journals and inflame dialog in public forums (Singer 1993). One recurring premise is that, in the presence of uncertainty, the benefit of the doubt should be given to survival (Cook 1996).