Portal de Periódicos da CAPES

A Genetic Counselor's Story of Birth, Grief, and Survival

2011; Wiley; Volume: 21; Issue: 2 Linguagem: Inglês

10.1007/s10897-011-9430-5

1573-3599

Cecelia Bellcross,

Ethics and Legal Issues in Pediatric Healthcare

I wrote this essay when my son was 5 years old, when I still practiced prenatal counseling. He is now 18. I had intended at the time to share it with my genetic counseling peers via some form of publication, but somehow never could find the courage to do so. When the call came from the journal for “Defining Moments”, I knew it was time, and I was ready. Long has this narrative been in my heart to write. Many times the words and thoughts formed in my mind, but I could not seem to put pencil to paper, fingertips to keyboard. Perhaps now, enough time has passed that I may put my thoughts in writing without the emotion overwhelming me. Time—the hurdle, time—the healer. I write these words now for myself, as a catharsis, a meditation. I write them for all the genetic counselors who have ever shared my fear and pain, through their own experiences or those of their patients. I write them for all the families, couples, and individuals who have been, or will be, required to walk a similar path. Like so many of my fellow genetic counselors, I faced the thought of embarking upon my first pregnancy with some trepidation. I wished that I could somehow become ignorant of all the statistics, disorders, complications and images of “non-perfect” babies which I was trained to know, with which I worked on an almost daily basis. I thought about what I could handle, what it would be like if I became a statistic, what my decisions and choices might be. At the same time these thoughts were running through my mind, I tried to reassure myself. I was healthy, I had no family history, I would be on prenatal vitamins with folic acid. I would have a CVS, MS AFP, and a level II ultrasound. I would have the very best of prenatal care. My chances should be better than 95%. All the tests and scans were normal. How ridiculous of me to worry so. Third trimester—countdown time. The eyes of my patients on my swelling abdomen. The reflection of increased trust in some, the longing in others, the apologies to the agonized few. The childbirth classes, watching the innocent naïve faces of the other couples, wondering which of us might be the statistic. Offering my genetic counselor's “wisdom” when asked how to talk to the unlucky. The excited, anxious trip to the hospital—my husband forgot his wallet but remembered the champagne. Twenty-two hours of labor, 2½ h of pushing, the monitor showed no signs of fetal distress. Finally he was crowning. His heart rate accelerated for a moment, but a quick episiotomy, one more push and he was out. But the anticipated cry did not come. They suctioned him, I struggled to see. Why wasn't he kicking and screaming? Then I saw my OB's face, her anxious expression. Oh no, no, no, oh my god, what is wrong? The NICU was called, vacuum suction was tried—it didn't work. I had not even had a chance to touch him, he was supposed to be placed on my abdomen, what are they doing? I watched helpless and immobile as they worked over him. His color was good, his tone was not. He was grunting—no one seemed to know what to do. Please, please, please make him be OK, tell me he is alright. “We are taking him to the unit.” “Please let me hold him.” One brief moment in my arms. Connor move, please move, please cry. The he was taken away. My husband followed, his backward glance to me a volume of feelings. My own mind was numbing in disbelief, the cold empty air filling the space that my aching arms created. My OB tried to reassure me as she extracted my placenta, stitched the episiotomy. Then she left, the nurse left, and I was alone. I had just given birth to my first child, but I had no baby in my arms. I was supposed to be happy, celebrating, but instead I was lying there helpless and terrified. Where was everyone? What was happening to my baby? Why doesn't someone tell me what is going on? Finally my husband came back. He couldn't tell me much. Only that he was breathing and they were working on him. I had delivered on a Sunday—there was no neonatologist on staff, one was being called. We waited, we cried, we tried to reassure one another. This cannot be happening to me, to us, to our baby. In the next room a couple from our Lamaze class held their healthy baby boy delivered the night before. They came to congratulate us. We said thank you, we tried to smile. Did the longing and fear in our eyes show as we looked at their perfect, squirming son? Later that day the neonatologist who had finally arrived told us he was doing much better. Probably just a slight infection. A few days on IV antibiotics and we should be able to take him home. Eight hours after I delivered we were allowed to see him in the NICU. The isolettes and monitors and tiny, tiny babies. And there was Connor looking gigantic alongside all the preemies. He had a tube in his nose, wires on his chest, and IV in his arm—but he was beautiful. I held him. He was crying and distraught. He seemed in pain. I rocked and murmured and sang. He would not be comforted. Then we had to leave him. The next morning we awoke from the few hours of fitful sleep we had managed to snatch. We were told we could go to see him. We made our way to the NICU past the birthing suites of healthy crying babies and happy parents. We had not even entered the unit when the resident came out and stopped us. “He's been having seizures” she said to us there in the hallway. Oh my god—NO. Something was terribly wrong with our baby. How to describe the pain at that moment—a tearing, searing, aching, consuming agony. Why? Why? Why? Why him? Why us? What did I do wrong? I called everyone I knew—two medical geneticists, a biochemical geneticist, and a pediatric neurologist. They could find nothing, nothing but the terrible continuous seizures that no medication seemed to control. Finally the pediatric neurologist I had called directed the staff to “Keep pumping the pheobarb levels until he either quits seizing or you have to intubate.” Two, three, four times normal therapeutic levels. Finally, the seizures stopped, just short of his breathing stopping also. We were told later that he had been having seizures all night long. It had been more than 12 h before they were under control. Day two of his life. His lungs started to fill with fluid. His heart began to enlarge; his kidney's declined their output. The cranial ultrasounds were normal, the biochemical testing was normal, the measurements and features and dermatoglyphics were normal. But the EEG was now flat. We were told by the staff neurologist, “He will probably not survive and if he does, he will be in a vegetative state.” We placed the “no code” on his chart. We did not want a life that was no life for him. That night we held him and took pictures. I knew we would want them someday. Are you supposed to smile at the camera while holding your baby who will probably not survive the night? We talked about what kind of service to have, where to bury him. I never realized grief could be so physical. Surely there must be blood seeping from this ragged, gaping wound that is my soul. But he did survive that night. In fact over the next 4 days he came back to life bit by bit. He opened his eyes. He moved. He cried. He nursed at my breast. His eyes were bright and focused. On day nine they repeated the EEG. We waited for the neurologist to give us the verdict. “It's essentially normal.” he said. “I am very optimistic. All his neurological signs are very positive. I think he's going to be OK.” We took Connor home on day ten of his life, trying to be happy and not let the gnawing fear take over. At his 6 week evaluation all signs were good. We asked if he were “out of the woods.” We were told that if his development remained normal at 1 year, then the outlook would be very optimistic. One year—an eternity of wondering and worrying. We did not have to wait long. The fear that we had tried so hard to push away became reality. I watched him and knew—something was not right. He couldn't hold his head up like the other babies. He was not nursing well. He began spitting up frequently, then vomiting, and then he stopped trying to nurse. We went to the pediatric gastroenterologist, to the feeding clinic. We tried every different formula, bottle and nipple ever invented—nothing worked. We took him for the scheduled follow-up MRI. Over the phone I heard the words from the neurologist—“cerebral atrophy.” I knew what it meant, but I looked it up anyway—“the emaciation or waiting away of tissues.” Connor's brain was not growing, it was shrinking. His head circumference had declined steadily from the 50th to the 5th percentile. His weight began to drop too. The most fundamental function a mother can perform is to feed her child, and I was failing. Day after day, every 2 h we would struggle with a special bottle, a cup, a spoon. We would manage to get 1 or 2 oz down, and nine times out of ten it would come back up again. We returned to the neurologist after 2 months of this struggle. Connor's head circumference was now below the 2nd percentile. We were told then that “He will be severely physically and mentally delayed. He probably will never walk, never talk. These kids are very hard to care for and with all your effort he may never even know you are his mother.” No one should ever have to hear these words. We now had a diagnosis of sorts—cerebral palsy and acquired microcephaly. There was no known genetic basis to his problems; the only possible explanation was birth trauma. And yet the tracings had been perfectly normal. The CT and cranial ultrasounds at birth had shown no evidence of a bleed significant enough to cause this degree of damage. As every mother does, I felt it must have been something I did. The time I walked so far in the hot sun, or the exercising, or the occasional diet soda or cup of coffee. The rational genetic counselor part of me knew it was none of these things, but the emotional side still wondered, still wonders now. How we survived the next several months I will never know. They are a horrible blurred memory. We insisted on a G-tube, so at least he would get adequate nutrition and we would get some relief from the constant feeding struggle. All the stages of grief I had learned about in school, I experienced. Sometimes the anger became so intense I felt I would explode. The incredible unfairness of it. The times of terrible depression, the overwhelming despair, the feeling of wanting to give up. Yet even while the prognosis of the neurologist echoed in our minds, we would look into Connor's beautiful blue eyes that seemed so responsive and so aware. His smile was bright—it demanded hope, it received love. I finally returned to work. What had been planned as an 8 week maternity leave had turned into a 6 month leave of absence. For many months I didn't know if I would ever be able to practice genetic counseling again. But I did go back, just a few hours a week at first. I did only the most routine AMA cases. I knew I could not emotionally handle a fetal anomaly, an abnormal result. These were too close to home. I did not need something to unleash the pain that I was struggling so desperately to keep under control. Working helped. It helped me to feel that there were still some aspects of my life that were “normal.” At first just taking a family history was hard. I would collect a completely “clean” history and wonder—why couldn't that be me? Gradually I was able to separate myself more. Part of this was time, part of it some level of acceptance, but most of it was Connor himself. He defied all of the neurologist's predictions, or almost all. We had been told that if he did not sit by age two, he would never walk. At 9 ½ months Connor sat. What incredible joy this simple little milestone brought us. Although Connor's first birthday did not bring the relief we had hoped for, there was cause for celebration. For Connor did know me, he knew his father, and his love for us was open and transparent and real. We were finally, a family. The struggle of course has not ended. For this is truly a chronic unending sorrow. Not a day goes by when I do not wish for the little boy that should have been. For me acceptance will always be a process. I cannot conceive of ever fully accepting what happened to my son. For to me acceptance implies that I am embracing this reality as having a meaning or purpose. I feel strongly that there can be no purpose to the suffering of innocence. It is simply an inescapable part of human existence, and it strikes at random, without cause. I have been inalterably changed by this experience—not only as a person, but as a genetic counselor. I can honestly say that I bring an understanding and empathy to my sessions that simply could not have been there before. While I can intimately relate to many aspects of what my patients are dealing with, I will be the first to say that every individual will react, grieve, process and come to terms in their own way. I try to be very conscious of my own feelings and opinions on what it is like to raise a child with special needs. I have only disclosed my personal experience to patients a handful of times over the last 4 years. I want to be very sure that the focus is not taken off the patient and that I am sharing for their benefit, not my own. However, I believe that even in those sessions where I don't disclose, somehow those couples sense that I am right there with them, that I do understand. Such sessions are still not easy for me, although I can say that they are healing in a way. I remember when I finally began to expand the type of cases I saw. It was after working with a family who had undergone a loss experience. By being there with them and for them, I was able to share their pain but at the same time resolve some of my own. By opening up and allowing myself to become vulnerable, I learned that I could practice in these situations and not become overwhelmed by my own emotion. This has also been very much a process. There are still times when I am struck by my own reaction to a patient's comment or belief. I find it hard to hear, “I just couldn't handle raising a mentally retarded child—it's hard enough to take care of normal kids.” Ah, if only they knew. I have also found myself at times being somewhat envious of those couples faced with a decision to terminate. As strange as this may sound, at least they had a choice—I had none. Do I feel my patient's pain more deeply than other genetic counselors? I don't think so. I simply feel it differently. I believe that all counselors must allow themselves to be vulnerable to some extent. For if we cannot feel with our patients, how can we help them? Every counselor brings to his or her own sessions their lifetime of experiences of joy and pain, sorrow and hope. It is why we do what we do. We can never separate ourselves from our own feelings and emotions. We must simply be aware of what they are, and when they might prevent us from focusing on the needs and wishes of our patients. In addition to a deeper sense of empathy, I am also more knowledgeable about the services, processes and hoops one must deal with when raising a child with special needs. This knowledge has been extremely helpful in many situations. Although I was vaguely aware of these issues from my training, I did not truly understand the tremendous efforts made by parents to ensure the best for their child. I feel these long range issues are important for couples to understand when they are struggling with the decision-making process. Because I have found this knowledge and experience so important to my profession, I believe that all genetic counseling students should have some intimate contact with families and professionals who deal with the day to day aspects of life with a child with special needs. My son Connor is now 5 years old. He continues to amaze me with his progress, determination and loving spirit. He cannot talk, but he can walk and run and play. He signs, and loves books and cars and Barney. I also have a 2 year old daughter who is healthy and delightful. Yes, life is much easier now than 4 years ago. The waves of sorrow are of course still there, but the peaks and troughs are not so intense. It becomes toughest when I start to wonder what Connor will be like when he is 8, 13, 20 years old. This fear of the unknown is akin to the feeling many parents making a prenatal decision experience. I have learned that I cannot dwell on what his future might bring; it is too overwhelming. I have learned that I must live 1 day at a time. Well-meaning friends and family say to me, “Oh, you must be so strong. I could never have handled what you did.” Rather than a complement I find this an insult. I want to shout at them—“NO! I am not strong—no one is ever strong enough to handle this loss of their child.” It is not a matter of strength, but one of survival. You either find some way to survive, to put some of the pieces of your life back together, or you don't. In this process of survival one may become a stronger person, but at least for me, it certainly wasn't there to begin with. I know that many others have dealt with far more difficult challenges, that in many ways we are the lucky ones. However, as genetic counselors we must remember that “it could have been worse” is meaningless for those who are experiencing the loss of their hoped for child—no matter what the circumstances. There are more chapters to write, but I will save them for another time. It is my hope that these experiences, thoughts and feelings will in some measure contribute to the continual process of self-evaluation that is essential to our lives as genetic counselors. It has been essential to mine. Thank you for letting me share my story.