Pam’s Papers – The Trisomy Medical Intervention Debate

The Medical Intervention Debate

An article about medical intervention in children with a trisomy disorder

By Pam Healy, PhD
Reprinted from the Feb-Mar-Apr 2012 SOFT Times newsletter
(See the companion article about children with a trisomy disorder, in Professional Viewpoint,by John C. Carey, MD, MPH, SOFT Medical Advisor, in the Professionals>Professional Viewpoint tab of this web site.)

Increasingly, there are articles in journals, and blogs and conversations on the internet, each related to the need for or wisdom of providing medical intervention to save the lives of infants and children with syndromes characterized by medical fragility and severe developmental delay. There are parents and some advocates who believe everyone should be offered medical services to prolong life. What is offered to otherwise healthy children should be offered to children with multiple disabilities or a poor prognosis aside from the current narrow medical need. Others be-lieve that some children are not worth saving, that nature should be allowed to take its course. They believe foregoing medical interventions will relieve the child of a life of suffering and the family of a life of burden. These two opposing philosophies mean there are two passionate camps with little middle ground.

The most recent article, published in January, 2012, argues for a lack of intervention as the humane course for infants with trisomy 18 or trisomy 13, labeled as lethal or fatal conditions. In “Trisomy 18 and Trisomy 13 Treatment and Management Decisions,” by T. Allen Merritt, MD, MHA, Anita Catlin, DNSc, FNP, FAAN, Charlotte Wool, Ph.D. APRN, Ricardo Peverini, MD, Mitchell Goldstein, MD, and Bryan Oshiro, MD. in NeoReviews, an online journal of the American Academy of Pediatrics, a group of clinicians consider ethical decisions in the NICU. The paper is a review of the literature on the challenging decisions facing maternal fetal medicine teams, along with other clinicians and parents, when determining care for children with trisomy 18 or trisomy 13. With increased technology, medical interventions have increased. The American Academy of Pediatrics asserts it is “Dedicated to the health of all children” but there seem to be clearly drawn lines according to diagnosis. Studies of the natural history of trisomy 18 and trisomy 13 are used to defend the position of minimal or no medical intervention. Since most infants with these diagnoses do not survive infancy, the condition is considered lethal. Those who do survive seem not to be considered, except in their cognitive limitations as argument for “no cure.”

The authors consider the conflicting approaches of paternalism by physicians and other professionals and the parental need for autonomy. They discuss possible medical procedures in the context of ethical decision-making and potential dilemmas, immediately, and in the distant future, should the child be given a future. They present perinatal palliative care as the alternative to aggressive medical treatment that parents may request. They carefully delineate what should occur. They begin with the belief by the medical team that palliative care is the treatment of choice. The team shares their position with parents after a diagnosis and include a social worker and spiritual services, along with medical personnel who will be involved. Following prenatal diagnosis a birth plan is developed. The team makes it clear to parents that what will be provided in that hospital includes intensive comfort management, control of symptoms and time for the families to spend with their child unencumbered by medical equipment. Resuscitation is only offered if the diagnosis is not clear or to buy time for family members to reach the hospital and spend time with the infant. The infant remains in the hospital until death or is sent home to die with Hospice follow up. If the family does not accept the limited medical interventions, then they are encouraged to find another hospital, which will provide ventilation, surgery, or dialysis.

The authors acknowledge that their preferred approach can run counter to what parents want, but they also believe that educating parents about their child’s diagnosis in terms of medical challenges and developmental outcomes is important, if parents and physicians are to have a dialogue and find common ground. The authors explain their approach is well considered and based on acting in the best interest of the infant and doing no harm.

The authors are concerned that medical interventions, which have been developed in recent years, serve to extend the lifespan of infants with trisomy 18 and trisomy 13, and therefore are contrary to ethical considerations held by many physicians. According to them, the best scenario is when parents and physicians agree and “the quality of the infant’s living or dying is humanely supported and is characterized by dignity and kindness” (1). When parents are unable to take the physician’s perspective, the result can be “moral distress, heartache and disappointment” (1). Typically, the problem arises when parents ask for technical support and surgery, and the neonatal professional team opts for palliative care and hospice care, that is, no heroics, just com-fort. The authors believe that medical interventions will not cure the child, will not measurably improve the situation. The authors believe that neonatal palliative care provides an opportunity to educate parents to do the right thing for their infant. They believe being lovingly held by parents in the final days and hours of life is what the infant needs, not medical interventions. They see education about “The selective use of intensive medical interventions” (1-2) as a means of reaching consensus for parents and physicians, who each believe they are interested in doing what is best for the infant.

The professionals consider both the infant, including potential quality of life and physical suffering related to interventions and continued survival, and also the lives of family members. They believe the lives of family members will be inevitably stressed with opportunities curtailed in caring for a medically fragile child of limited cognition. Finally, they mention allocation of resources. Limited medical and community resources mean that resources that go to an infant, then child with limited potential are drained from others who might need them, in order to reach their potential which is greater than that of the individual with trisomy 18 or trisomy 13. They cite a study that determines that 1.6% of days in the intensive care nursery are for futile treatment of infants with a lethal condition or minimal cognitive functioning. When there is not enough to go around, first in NICU, later in schools, then decisions are made to support those who have the greatest chance of surviving to adult-hood, if given surgeries or other medical interventions, living independently and what actually is best for the child. There is often not time for discussion to lead to consensus. The stakes are high. Kids are dying. Real kids, adored kids in real families are dying. Doctors see educating par-ents as a solution. Parents, reeling from a new diagnosis, keeping vigil with a fragile infant or seeking treatment for a child with new problems are hardly in a posi-tion to educate doctors. These are also parents of young children, who do not yet know all the joys their children will bring. They just want to have treatment before it is too late. They want their voices heard, but it is an uneven playing field. One side has most of the power. The other side has the most to lose.

There are voices that should be heard. There are many who have had time to know first hand the “burdens” of raising a child with medical challenges and developmental delays. They realize that what their child cannot do matters to some, that the disabilities may preclude full participation in what society deems are important and maybe necessary endeavors. What is important to these parents and to the debate based on mutually exclusive approaches, is the realization of the joys also present in having a child with a chromosomal or other diagnosis.

Day-to-day experience makes the parents the experts, the ones to educate any clinicians who will listen. They have anecdotes, journals, pictures, and videos, that tell not of limited cognition but of development, meaningful interaction and joy. They have witnessed behavior that transcends the diagnosis. They have experienced love that transcends the disability. Those advocating a let-nature-take-its-course position, need to spend extended time with real families and see how much the child with an extra chromosome is lovingly integrated into family life. They need to hear how siblings gain more than they lose by having a brother or sister with trisomy. They need to hear how values are clarified, and how opportunities are opened up. They need to see how con-fidence increases as challenges are met. They need to see the delight, the possibilities, the triumphs and the love that make any burdens manageable.

The physicians and medical ethicists need to look at a three or five pound infant unable to coordinate sucking, breathing and swallowing, having apnea attacks, and see beyond that infant to a four year old asserting herself by refusing to be compliant, in the full throes of the terrible two’s, which should be celebrated as agency. They need to see a ten year old using a walker with determination and perhaps a bit of pride. They need to see a twelve year old with her head thrown back and laughing as she dances, twirled in her wheelchair to a live band. They need to see a fifteen year old flirting, a broad smile her response when given the attention she seeks. Those making the decisions they make in mercy need to see first hand rough and tumble play between young siblings, and the protective advocacy of an older sib-ling who comes up against the attitudes that devalue those with disabilities. They need to hear shared laughter and be touched by the quiet moments. They need to witness tears, not those that come from frustration with dealing with those in power, but from joy because so often the child in question is the perfect child for that family. Some families believe in fate and accept there is a reason for a special child in their lives. Others rise to the occasion, learning along the way. Some begin by making the best of the situation they find themselves in and become transformed. Some children with trisomy 18 and trisomy 13 do survive and bring their own gifts.

It is the people living with the long-term survivors who have the answers about the future, not the neonatologists or pediatric surgery teams that have never spent real time with older kids with what some call a fatal diagnosis. Questions should be raised not about a life of suffering but about whether cardiac surgery can mean better (but still limited) cognition, because a healthier heart means better circulation, thus less fatigue, better sustained attention, and more energy for exploring, thus more learning, and better development. It may be that the medical interventions now denied or discouraged, when given will make a better future and a different quality of life. Maybe having to decide way down the road about a group home or residential facility is an amazing outcome, not a problem worried about for 30 years and used as an argument against medical interventions in infancy. Parents are asking for weeks, months, maybe a few years with their child. Imagine getting decades!