Thanatophoric dwarfism, also called thanatophoric dysplasia, is a lethal chondrodysplasia first described in 1967 and characterized by "short limbs with curved, foreshortened long bones with flared metaphyses. Vertebral bodies are decreased in height, the thorax is contracted, and the pelvis is small with flat spiculated acetabula."¹ It is always fatal, and death from respiratory insufficiency usually occurs within hours or days of birth, although "survival for some months although unusual, is compatible with the diagnosis of thanatophoric dwarfism".²

This paper describes my response, as a parent, to the diagnosis of thanatophoric dwarfism in my infant son. My purpose in describing his case from this subjective viewpoint is twofold. First, I would like to add to the literature on this condition. When my son was diagnosed, I scoured the medical literature for information on thanatophoric dwarfism, and found little. Journal articles were generally descriptions of the child at birth followed by post-mortem examinations. Although there were indications that survival could be as long as three years, there was no information on development of infants who survive birth. This meant that neither I nor any of the medical team could know what capabilities for social interaction and development my child would have while alive. I requested developmental studies to be done while my child was alive, so that later I could provide at least one reference for other parents and medical personnel dealing with and infant in this situation.

Secondly, Eric's case touches on some areas of concern for medical personnel: the treatment of infants with fatal disorders; special considerations for newborn intensive care units in dealing with infants and families of infants with fatal diagnoses; and definitions of death. I don't expect to treat each of these concerns rigorously, but will mention how each concern manifested itself over the course of Eric's life.

When Eric was born on November 10, 1983 at the Wilmington Medical Center, my husband and I had already been alerted to the strong probability of abnormalities with our baby. An ultrasound examination done on October 26 had shown marked polyhydramnios along with short, "flipper-like" fetal limbs and a small abdominal circumference. The newborn intensive care unit (NICU) was made aware of the situation and was standing by when Eric was born by emergency Caesarian.

He was not breathing at birth and was resuscitated and put on a respirator. At that time a tentative diagnosis of achondroplasia was made and a specialist in dwarfism from the Alfred I. Dupont Institute was called for consultation. He made the diagnosis of thanatophoric dysplasia and he, my obstetrician and the resident pediatrician visited my husband and myself in my room to tell us the diagnosis.

Although medical personnel deal frequently with this kind of situation, fortunately such occasions for parents are few. Beyond the shock and the worry about Eric's immediate health lay the devastation of the ultimate prognosis of death.

An infant with a fatal condition poses difficulties that are different than those of other terminally ill patients. The first year of birth is a time of tremendous developmental growth and change.

Each day after birth brings acquisition and proficiency in sensory, motor and social skills. Parents of newborns typically delight in observing the day to day changes in development and behavior of their infants. If the days immediately following birth also happen to be the last days of an infant's life, the problems for the parents are enormous. What does one watch for, how does one relate to the baby, and what hope and pleasure in the child's life can a parent take?

In the days that followed, my husband and I wrestled with these problems. It was unclear what attitude we should adopt toward Eric. Should we just wait for his death? Should we spend our time with him searching for signs of deterioration? Our immediate response was to look to the medical personnel for guidance, since they encounter these kinds of situations every day. We soon discovered that there were no cut and dried solutions to our problem and that the medical personnel were as unsure about how to respond to Eric as we were.

The doctors and nurses involved with Eric responded thoughtfully to our concerns. Medical information was given as we asked, and not offered all at once. Some models for how to relate to Eric were offered. We could treat him like any newborn infant in an intensive care unit, giving him stimulation, paying attention to his tolerance for handling, and using our voice and touch to communicate with him. We could treat Eric as an unfortunate mistake of nature, the sooner rectified the better. We could avoid becoming too involved with him and put our hope in further pregnancies. Another model was that we accept Eric as a full member of our family and try to construct a family life involving him as far as his limitations allowed. Or, we could give him the care of daily visits but isolate him from family life. We could allow our other children to see him once, and then carry on family life at home without reference to him.

We decided to support Eric in every way we could. We wanted him to live as fully as possible until his death. Rather than adopting the attitude of watching for signs of impending death, we would accept the inevitability of his death while encouraging his development within its limitations. We would assume, until shown otherwise, that he could respond to stimulation and social interaction, and would come to know his parents' faces and voice. I was particularly interested in in teaching him to smile.

We wanted to incorporate Eric into family life as fully as possible. Toward that end, we requested that his brothers and sisters be allowed to see and touch him regularly, for their benefit and for his. We asked that those people who were concerned about him be allowed to see and touch him, for their benefit and for his. We wanted to foster the idea that the newborn intensive care unit was and would be Eric's only home, and we wanted conditions that would make it as homelike as possible for him and us.

Our desire for Eric's siblings, relatives and concerned friends to be allowed to visit him ran up against the restricted visitation rules of the newborn intensive care unit. Only parents are allowed regular visitation. The need for a sterile environment along with the busy daily routine underlies these rules. The NICU staff stretched the rules in order to accommodate our wishes as far as they thought possible. We were given permission to bring our children to Eric's bed once every two weeks; after the first month passed, this was extended to once a week. Over the course of Eric's life, his grandmother, one of his aunts, and the four people who came most frequently to look in through the nursery window were given permission for onetime only visits to his bed. Members of the clergy were allowed to visit any time.

We were grateful that the rules were extended to allow for these visits. It remained extremely frustrating, however, that any nurse, doctor or even nursing student making rounds in the unit was able to freely see and touch Eric, while his friends and relatives had to be content to look at him through a window. Infants need stimulation, especially from those whose interest in them is most personal, and it would be desirable for maximum visitation to be extended for infants who, like Eric, are not expected ever to "graduate" from intensive care to a nursery with broader visitation.

We also requested that a developmental specialist be brought in to assess Eric's motor, sensory and social skills. We were especially interested in keeping this data so that other parents with thanatophoric dwarfs would have some idea of the potential of their infant while alive. A specialist from the early intervention program of the Division of Mental Retardation came when Eric was 33 days old, and stopped in regularly when making hospital rounds for follow-ups. Her report is as follows:
 

"On December 13, 1983, a developmental assessment was ordered
for Eric Stabosz, who was one month old and was respirator dependent. Many of the items I usually assess on infants, e.g., reflexes, motor tone, etc., could not be adequately assessed while Eric was on a respirator. I was able to assess some of Eric's coping abilities and his interactive skills. Visual and auditory skills are usually well developed at birth and Eric's skills were very evident. When I first met Eric, he focused and tracked as far as his position would allow. When sounds were presented, Eric would search for the source with his eyes. Eric seemed to enjoy touch and he appeared to smile. When he was over-stimulated, he became very distressed.

I visited Eric weekly and observed changes in him. Eric, like most newborns, preferred black and white pictures (checkerboards, simple faces), but his tastes became wider and he showed his fondness for more colorful pictures especially those drawn by his brothers and sisters. Usually I would fine him with his eyes closed when I visited. He often appeared to be shutting out the excess noise and activity rather that sleeping. As I spoke quietly to him, he would open his eyes and find my face. He became very good at localizing sounds. When he was alert, he displayed good interactive skills. He enjoyed having someone talk to him, play music for him, and stroke his body. He enjoyed stimulation, made progress developmentally, and offered positive feedback to those who interacted with him. A full-term, respirator dependent infant often needs stimulation and is very capable of interacting with his/her environment."³

As Eric neared three months of age his condition, which had been deteriorating, entered its most troubling phase. During a medical procedure, his heart rate dropped extremely low, he lost consciousness and he never woke up. Nor did he ever again show any spontaneous movement, and only twice was it recorded that he showed reflexive movement. He showed no reaction to stimulus, painful or otherwise. He continued breathing with the aid of the respirator, which had sustained his life all along. I was very concerned during this time about whether or not Eric was brain dead and, if so, what that would mean to his treatment. It was explained to me that in order to do an EEG, he would have to be moved to another part of the hospital and that in his condition he might not survive the trip.  Also, it was explained to me that by Delaware law, the absence of brain activity would have to be established twice over a 48 hour period before a conclusion of brain death could be reached. Even then, there would be no question of turning off his respirator, since Delaware has no recognition of brain death as the termination of life. It was suggested to me that the best model for thinking about Eric's current condition was that of a patient in a coma. My husband and I continued to visit Eric and talk to him and touch him, and felt comfortable doing so.

 We did make one decision because of his altered condition. We requested that the next time his heart dropped low, he not be coded but be allowed to die without intervention. However, after talking with a family friend who is a priest we changed our minds and requested that no alteration of his previous treatment plan be made. This plan, as it had been explained to me at the beginning by the resident physician caring for Eric, was that the NICU staff would do all they could to see that Eric did not die of anything they could prevent. They would exert maximum effort to treat him and, when he died, it would be because his body could no longer maintain life even with maximum support.

We changed our request for non-intervention out of a desire not to make any decision which would shorten our son's life. There was no way of knowing what kind of human experience he was having at that point, but it was desirable to us that the level of support not be withdrawn from him, so that Eric's death, when it came, would be completely his own, and would come to him in the environment which had been constructed for him from the beginning. This is not the same decision that other parents have made for children in similar circumstances, but it was the once with which we were satisfied.

Eric continued in his coma-like state for two weeks, until his heart gave out on February 18, 1984.

In conclusion, when an infant has a condition "not compatible with life", parents and medical personnel should work together for a course of action which is medically and ethically satisfactory to all parties. The decision to treat Eric like a full y-participating   member of our family was accepted by many but not all of the medical
practitioners involved. NICU was not set up to handle requests for visitations of siblings of infants not expected to leave the unit. Also, concern was expressed by some nurses and doctors that allowing siblings to become involved with a brother about to die would be harmful.

We received help from the medical center's Pastoral Care Division in communicating to the NICU staff our feelings on this and related matters. A representative from pastoral care met with the NICU staff and shared the research on death and dying which supports the notion that children's involvement in family deaths is healthy for the children. In addition, she shared with them some of my own feelings about Eric's situation and his care. Some staff who were initially concerned about the children's involvement later expressed the belief that seeing their interaction with Eric had convinced them of the soundness of the decision.

For Eric himself, the benefit of our approach was less tangible, but, I believe, just as real. No-one knew from the outset how long he would live, so the decision to live in hope and not in fear meant, for Eric, a commitment to his development and to the kind of interpersonal interaction that can only benefit an infant. Length of life cannot be used as a measure of the depth of experience of that life. Eric had a very difficult life, but he experienced love and he carried on the very human struggle for survival in a body that ultimately failed him, as our bodies will ultimately fail us.

  Our loving interaction with him was consistent with our view of the parents' role in the lives of their children. While allowing for the special limitations of this infant's life, we were able to use the same parental model in dealing with Eric, to his and our benefit.

 References

1 Isaacson, G., Blakemore, K. J., Chervenak, F.A. : Thanatophoric dysplasia with cloverleaf skull. Am J Dis Child; 137: 896-898.

2 Moir, D. H., Kozlowski, K.: Long survival in thanatophoric dwarfism. Pediat. Radiol. 1976; 5: 123-125.

3 Colley, N.: Developmental assessment of Eric Stabosz. Division of Mental Retardation, State of Delaware.
 
 

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