Imagine a couple in their mid-30’s. These people have a beautiful 20-month-old baby girl. But now, at 18 weeks of gestation, their second pregnancy goes awry. Prenatal diagnosis reveals that the developing baby has a spina bifida and hydrocephalus so serious that, if he survives until birth, he will almost certainly be faced with paraplegia and loss of bladder and bowel control. He will also have a less than 10 percent chance of even borderline-reasonable intellectual functioning, not to mention a host of elaborate surgeries. How might one counsel this couple if they say they are seriously considering terminating this pregnancy? Furthermore, suppose they do so; could one still celebrate the loss of this much-wanted and mourned child with some form of liturgy?
The Promise of Genetic Advances
It is commonplace these days to be astonished at our prowess in genetics. Hardly a week goes by that the news media does not report the discovery of some new gene on our DNA. This breakthrough is more often than not accompanied by the promise of potential therapy should there be a disease resulting from an abnormal form of this gene. The completion sooner than was projected of the sequencing of the entire human genome will no doubt set the stage for remarkable achievements in curing or controlling any number of genetic diseases.
Already nearly 400 gene therapy trials are currently taking place. These involve introducing into an individual a gene whose product has the ability to cure or slow down the progress of a particular disease. These are invariably carried on with great hope, but trial success has proved elusive. The first successful implementation of gene therapy, in several babies suffering from a rare immune-system disorder, was reported by Gina Kolata in The New York Times on April 28. But the tragic death last September of 18-year-old Jessie Gelsinger during a gene therapy trial at the University of Pennsylvania suggests strongly that such therapies are still some years away from routine use in the clinician’s office.
Current Clinical Practice in Genetics
The everyday practice of clinical medical genetics is far less glamorous than the promise and hype of news reports about current research. What genetic testing and diagnosis offer the prospective patient today is still primarily information, not therapy. If families and individuals avail themselves of this testing, they must then struggle also with the burdens and benefits that such information poses to the well-being of their offspring, themselves and their families.
Most often, genetic testing shows there is no disorder present and so relieves anxiety. But when the test results are ambiguous or reveal the presence of a debilitating disorder, the consequent pressures on parents can be excruciating. Information of this sort is best handled and delivered in a non-prescriptive fashion by genetic counselorsindividuals specifically trained in medical genetics, counseling techniques and human relational skillswho work in tandem with clinical geneticists and who often act as case managers as well as patient advocates. Usually the process involves one client, a couple, a family group or occasionally larger groups who seek or are referred for genetic counseling and testing for a variety of reasons. These include: the advanced age of the mother, a family history of a specific genetic disorder or birth defect, a known/suspected carrier status for a genetic disorder of one or both members of the couple, the unexpected discovery by ultrasound of one or more fetal anomalies, mental retardation or developmental delay, infertility or increased fetal loss and potentially familial cancer or mental illness.
Typical questions raised by the tests include: What does this mean? Why did it happen? Will it happen again? and What can I do to keep it from happening?
The Need for Pastoral Care and Education
People receiving news of problematic genetic outcomes need support from a variety of sources, including social workers, psychologists and even other individuals who have a child with the same disorder. Confronted by this information, patientsCatholic or not, practicing the faith or notmay also desire to consult with knowledgeable and wise caregivers for pastoral advice about how best to proceed.
At the present time, before genetic cures are available, how can pastoral caregivers, especially if they are members of the clergy, respond effectively to individuals and families in scenarios like those described above? In Pope John XXIII’s oft-quoted visionary words, will we as church strive to make use of the medicine of mercy rather than that of severity in dealing with the people involved?
Recently I was invited to give a keynote talk to an ecumenical group of clergy people and spiritual leaders. Over 1,300 flyers were mailed out, yet only 20 to 25 people registered. I judged the number of Catholics in attendance not to be great, but that was hardly surprising. I was told by the conference organizers that many clergy people of all denominations equate genetic counseling with counseling to promote abortion. Whatever the reason, the net result is that spiritual leaders may become increasingly ill-equipped to understand or appreciate the difficulties that those receiving genetic counseling face. This can lead those anxious men and women to feel marginalized at a time when they most need competent pastoral attention. More than one woman has said she was on the doorstep of her pastor’s office but was unable to go in because she feared being handled insensitively, unwisely or without compassion.
Pastoral Genetic Counseling
With the blessing and support of the Paulists, the religious congregation to which I belong, I endeavor to offer pastoral care and counseling to individuals and families facing genetic or chromosomal disorders. I also try to educate other pastoral care providers and genetics/medical professionals about the spiritual and pastoral needs of such parents. My practice, if one may call it that, has consisted of referrals from genetic counselors of those needing the specialized care that Robert Baumiller, S.J., has called pastoral genetic counseling.
I believe there are at least three essential roles that members of the clergy or spiritual leaders can play in helping those facing genetic disorders. They can serve as guides, helping such families or individuals to deal with the process of receiving and making sense of this information and then help them come to a prudential decision in light of what they have learned. They can provide support when parents receive bad news. They can be healers and reconcilers. I would like to illustrate these three roles to highlight some of the particular difficulties that each couple faces.
1. Guide for the perplexed.Upon examination by ultrasound, a young couple learns at 31 weeks of their first pregnancy that their child’s kidneys are estimated to be one-half the expected size. The perinatologist says that to survive, the baby will probably require virtually continual dialysis immediately after birth and eventually a kidney transplant. A genetics consultation is scheduled. Given the ultrasound findings and no prior family history of any diseases associated with small kidneys, the geneticist-pediatrician and the genetic counselor who consult with this couple are more optimistic about the baby’s prognosis. They think dialysis may be less frequent, and a transplant may never be needed. The couple informs their priest of these developments, and they talk with him about several of the likely scenarios. Soon it becomes clear that there is insufficient amniotic fluid being produced to maintain the pregnancy. Labor is induced at 37 weeks to avoid the baby being compressed. A day later, a 5 lb.-11 oz. baby boy comes out looking great, but his prognosis for the next 48 hours is grim. His kidneys are not functioning. His parents must decide within hours either to initiate invasive dialysis procedures for their child or, in the words of the attending pediatric nephrologist, to let him go.
Not every genetic counseling scenario, even one involving prenatal diagnosis, includes the possibility of terminating a pregnancy. The couple in this case was not at risk for any genetic conditions, so an ultrasound early in pregnancy was not offered. They were unaware of any difficulties until late in the pregnancy. Still, this case centers around the couple’s comprehension of complex and even contradictory information.
Once the problem was discovered, its significance was disputed by the experts charged with the baby’s medical care. Would dialysis be needed immediately? At all? How often? Would this be manageable or overwhelming for the parents? Would the high risk of continual infection, and the consequent suffering experienced by their child, render this option ultimately untenable? When would a transplant be needed? Was it likely to be possible, let alone successful?
In addition to the medical questions, there were pastoral and spiritual concerns. Could these parents let go of the child they wanted so badly? Would it be right or wrong to do so? Would God approve? Were they communicating well in the midst of their turmoil? Would they be able to live with the consequences of their choices?
As this drama unfolded, the baby’s prognosis looked alternately distressing, hopeful and dire before the delivery, joyful immediately afterwards and then inevitably critical. The parents needed and wanted pastoral attention to help them process the information they had received. Both were in tears at the prospect of having to make such a life-or-death decision. Their situation admitted of no straightforward or obviously correct course of action.
I spent some time reaffirming their intention to examine the alternatives exhaustively. I encouraged them to weigh carefully the probable benefits and burdens for their child of each alternative (making sure to consider along with these the benefits and burdens to themselves). A decision in favor of dialysis was not necessarily a once-and-for-all decision. They might need to revisit it down the road, perhaps more than once, as more information became available and/or their child’s medical status changed. They agreed to begin dialysis, because they felt their baby would want them to give him a fighting chance regardless of the eventual outcome. I prayed with these parents, celebrated this baby’s baptism in the hospital and administered the anointing of the sick.
In the end, with preparations to begin dialysis imminent, the child’s small kidneys began to function and that obviated any need for immediate dialysis. Some weeks later, the new mother talked of how she had strongly felt that God’s hand was working throughout this ordeal:
The actions of people, all sorts of people, have been for us a sign of God’s hand at work. The nurses of course, and the doctorseven our nephrologistthough it was harder at first to see his concern for the baby. God was present every time someone was supportive to us, as well as in our own strength to support our baby. And in the prayers of our family and our community. Do you know, people who barely knew usa priest in Italy, Buddhists in Scotland, people all over the placeare praying for him? How can God not be involved?
One of the core functions of Christian pastoral care is guidance, described by Clebsch and Jaekle as assisting perplexed persons make confident choices when such choices are viewed as affecting the present or future state of the soul (Pastoral Care in Historical Perspective, 1964). The couple in the case just reviewed needed not only to appreciate what they were being told by the medical professionals; they also needed to come quickly to a decision about the child’s immediate future and to resolve to live with the consequences. A pastoral caregiver can help patients clarify and/or resolve value conflicts arising from the impact of disturbing genetic information. Who better than this caregiver to invite or provide expression for the explicitly religious or faith dimensions of the dilemmas faced by individuals or families?
2. Support for the weary. Let’s return now to this article’s opening scenario in more detail. A childless couple in their early 40’s has had four successive miscarriages. The wife is now pregnant for the fifth time. She and her husband have decided against all prenatal testing because they are planning to keep this premium pregnancy baby no matter what. But a non-invasive ultrasound exam at 35 weeks of gestation shows suspicious features, so the parents agree to a late amniocentesis. This tells them that their longed-for baby has an extra copy of chromosome 18.
This is a condition that causes severe mental retardation, heart defects and respiratory difficulties (like apnea), and death in 90 percent to 95 percent of cases before the child is one year old. Suppose the couple comes wanting help in deciding how much care to plan on providing for their childassuming that this child does not die in the womb.
Prior to delivery, this stunned and saddened couple came to see me wanting help in deciding how to provide for their child given the likely problems if she or he did make it all the way to term? Should they go through one or more surgeries to correct a heart defect if the overwhelmingly greater likelihood was that the child would simply stop breathing a few days or months down the road?
We talked about whether surgery was morally required and how they could decide this. But we also talked about what they might want to do if their child died quickly: baptism, burial or cremation, and a memorial service. It turned out to be good that we did so, because three weeks later their child was born. He lived only 36 hours.
With genetic and chromosomal disorders, individuals or couples often have to prepare both physically and mentally for several almost contradictory outcomes at once. They may be giving birth, preparing for life-extending procedures and planning for a funeral, all within a very short stretch of time. In addition, if the infant survives, couples are faced with the psychological burden of mourning the absence of the perfect child they now will not have, and of welcoming the strangerdare I say the intruderthey did not expect. So in addition to meeting with medical specialists, nurses and social workers, having access to supportive pastoral caregivers, clergy and spiritual leaders can give them enormous consolation and hope. People in this situation need a shoulder to cry on, someone to hear their sorrow, understand their brokenness and reach out to them with care rather than give them pat answers.
Two biblical words come readily to mind: compassion, to suffer with, and comfort, to lend strength to. The overwhelming testimony of our Scriptures is that God does not abandon us, but is always with us, even in our pain.
In this particular case, the couple had very good coping skills and strong support from their families. Still, they needed additional support from a faith community and a safe setting in which to prepare for and grieve their loss. We celebrated the short life of this child with a funeral Mass. The mother’s gynecologist, the hospice nurse, the hospice chaplain and the genetic counselor joined the family for this service. There was a holistic and holy reverence about this celebration: an enlarged picture of the newborn was placed before the altar; the father read a letter to him after Communion. People stayed for a short reception, to eat and converse and look at photos and handprints and booties, to recognize the meaning of this infant’s very brief life. The bad news of a very difficult outcome, when it is faced with courage, grace and plenty of support, can be a profound gift for all involved.
3. Forgiveness and reconciliation. A practicing pediatrician, pregnant with twins, decided with her husband to selectively terminate the Down syndrome twin in a fraternal twin pregnancy. She was aware that probable physical ailments in the Down twin heightened the risk of prematurity and its complications for the unaffected twin. She also felt strongly that she did not have the psychological, emotional and financial resources to care for such a child, having seen firsthand in her practice the variety of outcomes from such diagnoses.
Five years later, however, she still had not resolved her regret over this decision. She had been raised a Baptist, and had then moved to Methodism. Her husband had been baptized a Catholic, but was raised without religion. Both wondered if a Catholic perspective might temper the judgmentalism they were experiencing, and so help them to heal.
This case, like that of the spina bifida baby mentioned at the start of this article, represents a supremely conflictual situation, a situation in much-wanted pregnancies when parents feel themselves bound to make decisions that are often against tenets they held very dear. Given the Catholic community’s conviction on nascent human life, the wise pastoral counselor’s task, as the late Richard A. McCormick, S.J., once put it, will be to establish the right combination, the right balance between moral conviction, which is demanding and prophetic and uncompromising on the one hand, and yet pastoral realism which takes that person where that person is and attempts to bridge the gap between the two (Genetic Decision-Making and Pastoral Care, 1981). Jesus was simultaneously demanding and compassionate. As a church, we only seem to approach this ideal by lurching from one attitude to the other, often missing the Spirit-filled median. We can always do better in this regard.
People facing genetic disorders do what they can. They may have done what they felt necessary, not what was right or good in the ideal. Those who terminate under such circumstances often feel that they’ve committed the unforgivable sin. They frequently will need reconciliation, forgiveness, if they are to find some measure of healing. They long to hear that God’s name is always forgiveness and mercy, as in the story of the Prodigal. They need to hear that no sin is too great to be forgiven. The adept filling of such a pastoral role will be critical to their continued spiritual growth.
Some Final Thoughts
People facing genetic disorders understandably get too much information. They come to genetic counseling wanting a simple yes or no. They go away with a bewildering assortment of data they cannot absorb and process well. They feel the need for guidance.
Those facing genetic illness are also receiving bad news. They need to lean on someone, to gain strength, to feel buoyed up. They need support.
Finally, these people often face excruciating dilemmas, and may make their own best decision (in practice) much removed from the ideal (in theory). They often do what they can, not what they feel God may be calling them to. Thereafter, they may well seek forgiveness, reconciliation and healing.
Sometimes the work of those engaged in such pastoral genetic counseling will mean the exercise of only one of these roles, but often it will require all three. As the demand for and variety of genetic services increases, more and more competent practitioners of such holistic care will be needed. Other specializations may be called for, perhaps to address pastoral issues arising from genetic testing for predispositions to cancer or to adult-onset diseases, like Huntington’s chorea. For now and the foreseeable future, these three rolestraditional in character but attuned to contemporary genetics and medicineencompass the challenging work of these emerging realities: guidance, comfort and mercy.