No Right Answers

Diagnosis: Trisomy 21

By a Trisomy 21 Mom

Thoughts on deciding whether to continue my
pregnancy following the diagnosis of Down syndrome

My husband and I waited until we were in our thirties to have children. We had spent our twenties pursuing graduate degrees and establishing our careers. We felt fulfilled, successful, and mature and wanted to share our happy life and good fortune with children. I went for a pre-conception visit to my ob/gyn. I began taking prenatal vitamins, eating especially well, exercising more faithfully and taking my temperature to track when I ovulated. Our baby was conceived with a tremendous amount of planning and preparation, but also with lots of love and excitement.

Although I was overjoyed when I discovered I was expecting, it wasn't an easy pregnancy. At six weeks I experienced some cramping and bleeding and was put on bedrest for a few days. An emergency ultrasound indicated the baby was fine. I also spent the first 16 weeks or so vomiting so much I had trouble getting through a workday, let alone doing anything else whatsoever.

Finally I started to feel a little better. I was beginning to enjoy my pregnancy and to feel that I was far enough along that it was "safe" to believe we really were going to have a baby. We bought books on pregnancy, books providing guidance on what sorts of baby products to buy, and I began keeping a journal. We made plans to rearrange our home and our lives and dreamt of all the time we would spend with our little one. We began talking, reading, and singing to our baby.

At our 16 week checkup we were offered a blood test called a triple screen, which can indicate the likelihood a baby has Down syndrome or neural tube defects like spina bifida. I was unsure about whether to get the test, but after discussing it my husband I decided it was likely to provide some peace of mind about the health of our baby.

Later, we discussed what we would do if poor results and further testing indicated a severe abnormality. My husband felt he would want to end the pregnancy; I was horrified by the idea. I had been feeling the baby move and kick since the 14th week, and the idea of ending the pregnancy seemed unthinkable, monstrous.

I decided to put the thought out of my mind given the odds were overwhelmingly in our favor for a healthy baby. I was still in my early thirties and was the picture of good health. I was taking every step I could to ensure an ideal pregnancy. Besides, we had no history of abnormality in either of our families. These things happened to other people.

On Friday, June 5, I got a call at work from my obstetrician stating the results of the triple screen indicated a 1 in 11 chance our baby had Down syndrome. I locked myself in my office. I was so badly shaken it was a full two hours before I could pull myself together enough to drive home. My husband and I were devastated, but we tried to reason that the triple screen test is somewhat inaccurate, and that we still had a 10 in 11 chance of a healthy baby.

The following Wednesday, June 10, we saw a perinatologist from a teaching hospital in our city who spent close to two hours examining our baby by ultrasound. She found no sign of abnormality. We learned we had a son, and bonded more strongly after watching him move and kick and suck his thumb.

The doctor asked if we wanted an amniocentesis, which would definitively diagnose whether our baby had Down syndrome, but also carried a 1 in 400 risk of miscarriage from the procedure (the risk can be higher with less experienced physicians). Because the ultrasound looked normal we felt hopeful, yet ultrasound only detects Down syndrome about 50% of the time.

The doctor left my husband and me alone so we could decide. After talking at length we knew we had to find out all we could about our son's health. We opted for the amniocentesis.

We had requested an experimental chromosome analysis called FISH (fluorescent in situ hybridization), which provides test results in 24-48 hours. With hope renewed, we awaited the results. Thursday and Friday came and went with no news. We spent the weekend acting as if we were pregnant once again, rubbing my stomach and talking to our son. We bought him a little wooden train and smiled at each other, imagining the fun he would have with it. Monday came and went with no news.

I drove home from work on Tuesday and found my husband waiting for me in our apartment despite the fact that he was not due home for several hours. He gently broke the news that the test results were in: our son had Trisomy 21, Down syndrome.

I was too shocked and numb even to cry. In the days that followed, as we awaited confirmation of the diagnosis using a standard chromosome analysis, I completely withdrew from the world and the baby. I didn't go to work. I didn't leave the house. I stopped touching my stomach and wore large non-maternity clothes that hid my protruding belly. I avoided the sight of my pregnant body in mirrors. In my shock and grief I could not admit my attachment to the baby.

We had to make a choice: Do we continue or end the pregnancy? Our doctors assured us that no matter what we chose we would be provided with good medical care and other appropriate support. They presented information about both options in a non-judgmental way and phoned often to see how we were and if we had any further questions.

In desperation we immersed ourselves in gathering information about our son's condition. As a physician who treats some Down syndrome patients, my husband had an idea of what might lie ahead medically, if not emotionally. I scoured my husband's medical textbooks and discussed his Down syndrome patients with him; I questioned several people I know who have family members with Down syndrome; I conferred with a close friend who is a special education lawyer who represents children with Down syndrome; I spoke with a psychologist who works with children with Down syndrome.

I have worked with people with Down syndrome. They were mildly retarded, could read and write, and seemed generally to be happy and to lead healthy, trouble-free lives. The brief snapshots of their lives I saw indicated affectionate, loving people who were leading dignified, worthwhile lives.

Of the handful of parents we know with a child who has Down syndrome, about half opted for prenatal genetic testing in their subsequent pregnancies. These parents told us they would never subject another child to what they have seen their child with Down syndrome endure. However, the other parents chose not to have prenatal genetic testing in subsequent pregnancies. These parents told us their religious beliefs did not allow for abortion under any circumstances. I do not share these religious convictions prohibiting abortion. However, I also do not believe that the sum of a person's worth and humanity is contained in their level of intelligence.

I delved into additional research on the subject. Sources are detailed in the article Down Syndrome: A Closer Look.

What were my husband and I going to do?

I thought about how difficult life is when you have a health problem or differ in a significant way from others. I imagined what it would be like to have a lifetime filled with illness, doctors, and hospitals. Then I considered facing that difficult life with mental and emotional disabilities. I envisioned living with all these burdens in a world that can be so cruel.

Yet I also realized I loved this baby fiercely. I knew he would be capable of loving me back. We considered the possibility he would be high- functioning and discussed the tremendous variability in the physical and mental disabilities of people with Down syndrome. We knew about the early intervention programs for children with Down syndrome provided by the state that would include speech therapists, occupational therapists, special educators, and social workers. I was certain that regardless of what my son might be like there would be some happy moments. How could I consider ending his life?

My husband and I were faced with a moral dilemma no person ever should have to face. Do we sentence our son to death, or do we sentence him to a lifetime with a severe abnormality? These were our only options. It seemed either choice could lead to tremendous suffering and regret.

I have heard this situation described as choosing between having your left hand or your right hand cut off. Of course you would choose the non- dominant hand, but you will still suffer greatly over this decision. To me, the right choice was not at all clear. Having this knowledge about our son forced us into making a decision one way or the other. Not to decide was also making a decision about our son's future. There was no way out. I was overwhelmed by this responsibility and terrified of making the wrong choice for him.

I agonized over this decision. I could not sleep. I didn't eat, yet still vomited frequently. Day and night I searched my soul for the answer that was right for my son, for me, for my husband, our marriage, our future children. In the end, and with great uncertainty, I made the heart- wrenching decision to end the pregnancy. After much discussion my husband agreed.

The procedure

We now had to turn our attention to arranging the procedure. It seemed ghoulish that we were discussing ways to end our son's life. We had the option of ending the pregnancy in the hospital where my husband worked, where they would perform dilation and evacuation (D & E) under general anesthesia, or going to another hospital where they would induce labor. We chose induction of labor, not simply because we wanted to avoid my husband's workplace for privacy reasons.

Apparently there is evidence that the grieving process is more complicated if you don't labor to deliver a stillborn, intact baby who you can hold and to whom you can say goodbye. I knew induction of labor during the second trimester is considered more grueling than full-term labor. It typically lasts 12-36 hours, but can go longer. I felt terrified and alone as I faced what was to come.

The results of the karyotype confirmed the diagnosis of trisomy 21 on Friday June 19. We scheduled the termination for the following Monday. We spent those long days distracting ourselves any way we could until Sunday night, when I finally gave in to my hysteria.

We arrived at the hospital at 6:00 a.m. on Monday, June 22, 1998. I was still in shock and disbelief that for 20 weeks I had focused every fiber of my being on protecting, loving, and nurturing this baby, and now I was signing papers to end his life. As they began the induction of labor, I could not stop crying. I just couldn't believe this was happening.

Two and a half weeks ago we had been happier than we ever had been in our lives. We were ecstatic and thought we would burst with excitement and joy as we anticipated the birth of our treasured child. Now we were in the depths of hell.

When the doctor saw me crying, she mistakenly thought it was due to the physical discomfort of inducing labor. She said "Don't worry, this is the worst part."

"Somehow I don't think so," I replied.

They tell me I was lucky that labor lasted only nine hours. I was allowed a morphine drip, given that the health of the fetus was not an issue. They assured me the baby felt no pain. Between the morphine and the prostaglandin to induce labor I vomited continuously.

At 6:47pm, I gave birth to my stillborn son. He was beautiful. An exquisite, tiny little person, even at only 20 weeks gestation. He was about 8 inches long and weighed about 9 ounces. I could pick out many of my husband's physical characteristics in the baby. I was unprepared for how perfect he would look.

I held my son for a long time. It was the happiest and worst moment of my life. I stroked his cheek and held his hand. I told him how sorry I was, that I would always love him, would never forget him. My husband broke down and sobbed. After he held our son for a while, I took the baby back, cradling him in my arms for the last time. I nodded off, fighting hard against the after-effects of all the morphine.

Finally they came to take him away. He had grown cold. They returned with photos, footprints, and a tiny doll's outfit they had foolishly dressed him in for the photos. We returned home empty-handed.

Facing my grief

In the days that followed I could not eat or sleep. I was obsessed by the idea that he was out there somewhere, cold, hungry, frightened, and looking for me. I cried endlessly over his photos. In my more hysterical periods I would scream over and over that I wanted my baby. I was convinced we had made a mistake. The right decision could not possibly hurt this much. Two days after his death my milk came in.

Toward the end of the first week I was able to start sleeping a few hours each night. My dreams revolved around other people dying-my husband, other family members, friends, even my pets. I dreamt my friends who were pregnant had miscarriages, stillbirths, grossly deformed babies. I dreamt my friends with infants lost their babies to SIDS. These thoughts and dreams continue now, months after my baby's death.

I see the world as a perilous place and fear anyone I care about could die at any moment. I cling to my husband, afraid each time he leaves the house he will die in a tragic accident and I'll never see him again.

I wanted to feel my grief physically, to have my body changed as I felt changed emotionally. I welcomed the discomfort of suppressing lactation, my rock-hard breasts bound and packed in ice, the accompanying low-grade fever, and for the heavy bleeding that follows any delivery. I had wanted the physical distress of labor. Though agonizing, it did not compare to the horror of this loss.

Ten days post-partum I awoke in the night shivering violently from cold. Within an hour, my temperature rose from 97 to 104. My husband decided to take me to the hospital. I cried deliriously, convinced I had a terrible infection and that they would do a hysterectomy and I never would have another baby.

Not one nurse or doctor in the emergency room expressed any sympathy for our loss or for what we were going through. As I was lying in a bed in the emergency room watching pregnant women waddle by on their way to labor and delivery, I felt utterly alone. I thought if there is a God, he's forgotten me. It was a particularly black moment in my life.

In the end there was no indication of infection. I have yet to shake the feeling I have been forgotten. For weeks after my son's death, I felt as if I were near the bottom of the ocean, in a dark, disorienting place. My movements were slow and labored. People spoke to me, but the sound was distorted and muffled. I felt as if there were a crushing weight on me. I experienced a tremendous heaviness in my chest, giving real meaning to the word heartache. I could think of nothing but the indescribable pain of this loss.

Sometimes I still feel this way. When I first ended my pregnancy I sometimes would wake up in the morning and immediately reach down to rub my stomach and greet my baby. Slowly, I would realize it was not a bad dream. I was not happily pregnant with a healthy baby.

Over time I have gradually adjusted to living in a nightmare. Now I have begun to feel as if the pregnancy never happened. Blissfully choosing baby things, proudly wearing maternity clothes, the overwhelming joy - it all seems so far away and surreal. I have no proof that it occurred at all, no baby. To the outside world, I am just another married career woman with no kids.

Soon after our son's death we stopped trying to deny the attachment and love we felt for him. We decided to name him Ben (Hebrew for "son"). Overwhelmed by the task of notifying people and at the urging of a grief counselor, we made up birth/death announcements and mailed them to almost everyone we know. We acknowledge we are parents, though our child is not living.

For a while my husband and I tortured ourselves wondering if perhaps the lab made a mistake and the baby had been normal after all (we refused an autopsy, opting to spare our son this final indignity.) We regret not taking his remains, and imagine he was in a biohazard bag in a hospital freezer somewhere, crushed under other surgical waste, and finally incinerated and dumped in a landfill.

We regret not asking for handprints, and not bringing our own camera with which to take better photos-the hospital Polaroids do not do our beautiful child justice. We regret not asking for the simple blue blanket in which we held him, getting instead the silly doll's clothing we had never seen him in except in the photos.

Sometime after Ben's death and with great effort I finally forced myself to leave the house and try to resume my life. I was angry with my body when it healed and I stopped looking pregnant. How could my body forget this baby so quickly? I had been full and ripe with life. I have become hollow, flaccid. My husband and I had received many phone calls, cards, letters, emails, gifts, and flowers as people heard the news. I found this contact, particularly the cards, letters, and emails, very comforting. I saved everything, every memento.

However, after about a month the cards and calls tapered off. Other people's lives have gone on. My life has stopped. I have shattered like glass into a million pieces. Bit by bit I am picking up the shards, trying to put them back together. Someday I may be whole again but I will never be the same.

I have tried to talk to friends and family about my continuing grief. Some are wonderfully supportive. Others feel I should be over it, I should move on with my life and not think about it any longer. I have joined a support group for women who end wanted pregnancies because of poor prenatal diagnosis. I have found much comfort, solace, and understanding among these other devastated mothers.

Immediately following our loss, my husband and I never felt closer or more in love. Somehow in the midst of our agony we were experiencing intense love, passion, and tenderness for one another, all mixed together with our anguish and grief. Since then our journeys through mourning have set us on separate paths.

The differences in the way we cope with this tragedy can be quite confusing and hurtful at times. But we still continue to communicate and feel close. Although my husband has made peace with our decision, I continue to feel racked with guilt and shame over having chosen to end our son's life.

Only some people know the circumstances of his death. To most people we said it was a pre-term labor and stillbirth. My family, who is Catholic and pro-life, does not know the circumstances of my loss. They have been most impatient with my ongoing grief. I find it bitterly ironic that they believe life begins at conception, yet feel I should not mourn my 20-week old son.

It took a long time before it occurred to me that had we continued with the pregnancy I still would be crying and in agony. I would be mourning the healthy child we would not be having, mourning the sort of life my son would have to face. Whether we had continued the pregnancy or not I would be crying over my son for the rest of my life.

I now realize the tragedy of the situation isn't so much that my son's life is over. It is that he had a severe abnormality.

I cannot be convinced the trisomy is not my fault, despite the fact that I hold a Ph.D from a reputable medical school and know this thinking is irrational. I wonder what I could have done to cause the abnormal separation of chromosomes that might have resulted in a faulty ovum. Rationally I know the extra chromosome could have come from the sperm, yet I seem unwilling emotionally to accept this possibility. I wonder if I waited too long to have children, exposed myself to too many x-rays or viruses. I seem to have focused my anger about the trisomy on myself.

I think back to February when we conceived our son. He had Down syndrome before we even had any idea I was pregnant. I could not protect my child from this chromosome abnormality and I chose to end his life. I feel like I have failed miserably as a mother, that I must be a monster for choosing to kill my baby.

It is ironic that I make my living writing about genetics research and the ethical issues surrounding genetic testing. I never dreamed I would be caught in this web myself. We had the knowledge that our baby had trisomy 21, but we had no way of knowing which or how many diseases he might have, or how severe any one of his disabilities might be. Having the knowledge that he had trisomy 21 forced us into making a terrible choice between life with this syndrome or death. It is a no-win situation.

Would it have been better to refuse the prenatal testing and gamble on our child's future? Some women choose not to have the blood test that can indicate the probability your child has Down syndrome or neural tube defects. Many women refuse amniocentesis, which can diagnose chromosome abnormalities but also comes with a slight risk of miscarriage. But few women decline ultrasound, which is safe and can detect many treatable complications. Yet by ultrasound many women discover their baby has a severe or fatal illness. Then they are faced with the same moral dilemma we have faced.

Should I have refused the amniocentesis? Are parents morally obligated to gather all available information when deciding what is best for their child? Does choosing not to have this information relieve you of that responsibility? Perhaps if there is a God, he gave scientists the ability to create prenatal testing.

If Ben exists somewhere, does he understand we used that technology in our desperate attempt to make the best choice we could for him? I will continue to search my soul for the answers to these un-answerable questions for the rest of my life.

Our lack of faith has complicated our grief. I wonder where our son is, and whether he exists in some form somewhere. I cling to the hope that there is an afterlife and that I will see him again. I hope he is somewhere wonderful, where there is no sickness and suffering, being pampered and spoiled by our loved ones who have died.

My husband muses that perhaps the Hindus have it right and he'll be reincarnated as our next child. I suspect if there is a God, he doesn't like us very much. Life continues to seem perilous, and I often feel I still am in a very black place. We think about conceiving again with trepidation and heavy hearts.

Our risk of having a baby with Down syndrome based on my age was about 1 in 600. Now that we already have conceived a child with Down syndrome our risk of having another has shot up to 1 in 100. That's still a 99% chance of normalcy, but we are feeling extremely unlucky these days. When we conceive again, our perinatologist will offer us an ultrasound at nine weeks gestation, no great reassurance given they only can detect Down syndrome about half the time. We will be offered a procedure called chorionic villus sampling (CVS) by 12 weeks. CVS involves a chromosome analysis that can diagnose Down syndrome, but unlike amniocentesis it is performed in the first trimester. However there is a 1 in 200 risk of miscarriage due to the procedure (the risk can be higher with less experienced physicians).

Even if we make it over these hurdles in the next pregnancy I have a sinking feeling we will lose our baby to something else: complications during pregnancy or delivery, stillbirth, SIDS. There is no end to the horrors my imagination can dream up.

I continue to find it unbearable to face people either in person or over the phone. I bury myself in writing, filling page after page in my journal or sending off endless rambling letters to friends. Right now it is the only form of contact with other people I can endure. I stick close to home, unable to stand being anyplace with a lot of children.

When recently I saw an exasperated father with his three children at the store, I found myself thinking for a split second that he neither appreciates nor deserves his children, and I should just take his baby. How terrifying such a thought even could enter my mind!

I don't imagine I ever will be happy again. One of my books states you never will get over the loss of a child, but you will get through it. Get through it? I'm not even sure what that means. A friend told me the pain never really goes away, you just learn to cope with it, like a chronic ache. Some books say the grieving process will take two years. I don't know how they arrived at that particular number. I have only made it through the first months. There are times it is so unbearable I feel I won't make it through the day.

I have found that in some ways the pain and grief actually have gotten worse with time. There are no more sympathy cards and calls, no more thank-yous to write or arrangements to make. The shock and numbness have worn off and I am faced with the reality of what has happened. The world is filled with pregnant women, babies, and children, disturbing reminders of my loss everywhere.

You do not plan for a baby during pregnancy, you plan for a child your entire life. Now I am left to find some way of living with the decision we've made, and of enduring the life-long heartache. When an adult dies, many people mourn the loss of the person they knew. With Ben, I mourn the future about which I dreamt, a future that will never be. No one else experienced those dreams as fully or was connected as intimately with Ben as I was. Now I am left to cope with this loss alone.

Over time, however, I also have been able to focus on some positive aspects of this loss. I hope this is a sign of healing. I have a newfound appreciation for my husband and my marriage, and for good and loving friends. I've learned that being a parent is not easy and sometimes requires you to make extremely tough decisions that will tear your heart out. But I now know I can still talk to Ben and share my thoughts and dreams with him, that thinking of him can make me smile and not just cry.

Ben has taught me I can love with all my heart and soul a twenty-week old fetus who has died. Ben has changed me. I probably look the same to the outside world, but inside I know I never again will be the same person. I am branded by this loss. With it has come a heightened awareness of that which is important in life. I realize I won't always live in this rarified atmosphere, but I don't ever want to lose this awareness.

I have learned how precious life is. I would not trade my 20 weeks of carrying Ben for never having experienced this pregnancy, despite its tragic end. With my next pregnancy, I want to savor every minute I carry that child, especially if I am to lose my baby.

My husband and I have already chosen names for our next baby and will begin using them as soon as I know I am expecting. I realize I never again will experience pregnancy with the same unrestrained joy. But I want to try to enter my next pregnancy with a sense of emotional abandon despite the risks, as one should enter any loving relationship.

What I've learned

I feel a tenderness toward people with Down syndrome, as well as toward their families. I admire the courage and love with which they face the challenges of life with this syndrome.

I feel a respect for and kinship with people who have chosen to continue their Down syndrome pregnancies. I realize these feelings probably are not reciprocated. However, because we agonized over our heartbreaking choice, I could not possibly judge someone who has arrived at a different decision. We all do the best we can, navigating this new and ever-changing terrain of prenatal testing with no road maps.

Most importantly, this experience has taught me to be more tolerant and less judgmental of others. Some people have told me "I never would end a pregnancy because of an abnormality!" These words haunt me. I uttered that exact sentence a few months ago, before I knew my son had Down syndrome.

I also am bewildered when people assure me "I also would have ended the pregnancy." A decision like this ultimately is based on a thousand unanticipated and very personal factors unique to your exact circumstances.

I have known women who were sure they would end a pregnancy like mine, then after a bad diagnosis decided to have their baby after all. For that matter I also have known quite a few devout Catholics who chose to end wanted pregnancies after poor prenatal diagnosis. You can't possibly know what you will do until it happens to you. I'm not even sure I will end my next pregnancy if I conceive a second child with Down syndrome.

The older I get, the more I realize that few issues in life are black and white, but fall instead into a gray area. I'll never know if I made the right choice, or even if there is a right choice. I only know I made the best decision I could at the time. Like those who continue their Down syndrome pregnancies, we made a choice about Ben's life out of love.

The author holds a Ph.D in biomedical sciences. She is a medical writer for a genetics research institute as well as a guest researcher in a gene therapy lab.

References

"Down syndrome: Managing the Child and Family" by Paul T. Rogers, in Primary Pediatric Care, 4th edition, 2001, Robert A. Hoekelman ed. Mosby-Year Book Inc.

Down syndrome: Advances in Medical Care, Ira T. Lott and Ernest E. McCoy eds. Wiley-Liss Inc, 1992.

"My brother, Jim" by Trish Boswell and Carol Tingey, in Down syndrome: A resource handbook, by Carol Tingey, Little, Brown, 1988.

"Facts About Down syndrome" booklet. Published by the National Institute of Child Health and Human Development of the National Institutes of Health, Public Health Service, U.S. Department of Health and Human Services. NIH publication No. 97-3402, April 1997. Developed and printed by NICHD with an educational grant from the National Down syndrome Society (out of print.)


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Mothers tell their stories...


I told her how sorry I was and that I loved her and did not want her to suffer. I would rather suffer every day for the rest of my life than to allow her to suffer one moment in life.

~Mom of an Angel

Everything was going great. As already having two "normal" pregnancies under my belt, I felt confident. I knew there was always that chance of hearing bad news but I said "no, not me, not our baby."

We felt that if our daughter had been in a car accident and was on life support with the same internal injuries, we would not keep her on life support and let her suffer. This child deserved the same dignity."

~ A grieving mom

I initially thought I would "be brave" and continue my pregnancy. But I came to realize that ultimately it wasn't about how strong I could be, how deeply I wanted this baby or what important lessons he could teach me. It was about what he would experience in his short life. Given his diagnosis, he would have known only suffering. As his mother, I couldn't allow that to happen.

~ A mother at peace

It was our ignorance for believing that all pregnancies led to a healthy baby. It was my arrogance for believing that since I had the best medical care, took prenatal vitamins even before and during my pregnancy, never took drugs, never smoked cigarettes and drank about half a glass of wine a year, that our baby would be safe.

~A bereaved mother

A mother will stop at nothing, including her own hurt, both mentally and physically, to protect her child.

~Brokenhearted Mother