A Dream Realized
Jason T. O'Neill
Writer’s comment: This piece evolved out of pure curiosity. Professor R. Scott Hawley presented to his Molecular and Cellular Biology 10 class a list of ten topics, from which we were to choose one about current issues in genetics. The topic I chose particularly intrigued me. The story traces a couple’s decision to abort a fetus that had tested positive for the mutation that causes Duchenne Muscular Dystrophy. The topic, however, required that the focus of the story be on Elizabeth’s (the mother’s) dilemma. This provided me with a unique opportunity to take a completely different perspective, as I had to write this essay from a female point of view—as if I were actually the mother of an unborn child. While the narrative voice and the main focus of the essay is Elizabeth’s, I developed Jeffrey’s (her husband’s) character and used his voice to portray the feelings I would have if I were Elizabeth’s husband. I hope that you enjoy reading this piece as much as I enjoyed writing it.
—Jason T. O'Neill
Instructor’s comment: Students in MCB 10 are expected to write an essay that focuses on the application of modern genetics to human and social problems. To be precise, we ask them to put themselves in the shoes of someone grappling with a genetic dilemma, to get them to “take genetics home with them” for a day or so. This essay by Jason O’Neill does exactly that. His discussion of the ethical issues demonstrates knowledge of the science of genetics as well as an understanding of the complicated social issues.
—R. Scott Hawley, Molecular and Cell Biology
I gazed out the thick pane of glass to my left, allowing the fields to go by practically unnoticed. Like I seemed to do so often these days, I reflected back on my life—where I had been and where I was headed.
“Ma’am? Would you care for a beverage?”
“Huh? Oh, just water please. Thank you,” I responded. I had become so wrapped up in my own mind that I was unaware of my surroundings. The waitress’s question brought me back to reality, and I grabbed a magazine out of the rack on the back of the seat in front of me. I took a few sips of water as I thumbed through a Family Circle I had just picked up. The speed of the train and the constant hum of the wheels on the tracks quickly induced another trance, as I again gazed out the window.
I remembered back to when I was eight years old. Every day when I got home from Mr. Huntley’s class, I quickly did my homework so I could play with Sarah and her younger brother, Ryan, across the street. My favorite thing to play was house. I was sure Sarah and Ryan got sick of playing house every single day, but I insisted that we did. I was the mother, Sarah put on some of her dad’s clothes and played the father, and Ryan played our son. I loved the concept of a family and of being a mother. When we played, I cared for Ryan like he was my son, and when I wasn’t with Sarah and Ryan, I carried around a stuffed doll named Nellie. My mother admired the great care that I showed towards Nellie; she always said that some day I would be a great mother. I truly believed her, and I planned on having as many children as I could to prove her right.
I snapped back to reality as I felt moisture on my cheeks (a few tears had rolled down my face). Fortunately, the car in which I was riding was nearly empty—I guess a Monday afternoon Amtrak into Davis is not that popular. I wiped my face with a napkin the stewardess had given me and I gazed out the window again.
I thought back to my wedding day and to the day I met Jeffrey. I first spotted Jeffrey in an economics class during my first year at UC Davis. We sat next to each other at the beginning of the spring quarter and we began to talk. I learned that we were the same age and that we were both economics majors. We became good friends as we helped each other with homework and exams. We signed up for the same economics class for the next quarter, and we kept in touch over the summer. We then became very close friends—in fact, became best friends.
We started dating shortly after the school year began, and our love for each other steadily grew. By the end of our second year at UCD, we decided to marry as soon as we completed our educations. We both finished our undergraduate work in four years; Jeffrey went on to get his masters in business administration at the Graduate School of Management at UCD, while I landed a well-paying job as an operator for MCI. After Jeffrey completed his graduate studies, he went to work for Merrill Lynch as a financial analyst. Before he started working, though, we got married.
June 22, 1987, was the happiest day of my life. We had a beautiful wedding at St. Mary’s College, a small Catholic school in Moraga, California. I remember being the center of attention that glorious summer day as everyone gazed at me and my stunning dress when I walked down the aisle. Jeffrey and I began our lives together that day, and we planned to start our family (we both wanted a large family) within five to six years.
Much as planned, I conceived a child six years after we got married. Four months later, I had an amniocentesis performed at Jeffrey’s request. He had lost a childhood friend at the age of fifteen to Duchenne Muscular Dystrophy, a disorder that is often fatal before the age of twenty, due to extreme skeletal muscle wastage. Jeffrey did not want the same thing to happen to our child, and he was adamant about aborting the child if the test showed positive for DMD. I thought he was being over-cautious (I knew that I would have a perfect child), but I went in for the test just to please him.
As it turned out, the test turned up negative for DMD, but positive for Turner’s syndrome. The doctor described the phenotype of this child as a sterile female with ovaries that appear as rudimentary streaks. He told us that nondisjunction or failure of homologous chromosomes to recombine and/or segregate at random during meiosis (the process during which gametes are formed) had resulted in the embryo receiving only one X sex chromosome. He also told us that most Turner’s embryos spontaneously abort because they have only one copy of a gene that encodes a protein essential for normal levels of protein synthesis. I was devastated. The doctor offered his condolences and several phone numbers that we could call for counseling, but it didn’t help. I cried uncontrollably during the drive home. Jeffrey comforted me, and I soon began to accept my daughter’s condition and the responsibility of caring for her. However, as the doctor had warned us, the embryo spontaneously aborted less than a week after our visit.
It took me a year and a half to get over the miscarriage. I had so many doubts about my ability to carry a child. I desperately wanted children, but I was not sure if I could carry one to term. I think Jeffrey suffered the most from that tragedy. I used up a month’s vacation time to sit at home, cry, and wonder about the large family that I might never have. Jeffrey tried to comfort me, but I only ended up distancing myself from him as I took long walks and car rides by myself.
Then, half a year ago, Jeffrey and I decided to try again. Four months after conception, Jeffrey had me go to our doctor, Dr. Clark, for another amniocentesis. My parents were quite angry at me for being tested the first time because they do not believe the decision to abort a child should be made on the basis of the child’s genetic makeup, and they were equally angry the second time I was tested. I asked them why they were so worried that we might decide to abort the child. It was then that my mother told me that she was a carrier for the DMD mutation and that her younger brother, Jim, had died from the disease shortly after his sixteenth birthday. I had heard about Jim, but I was always told that he died in an automobile accident. She also told me that my older brother, Tyler, who died when I was four, had actually died of DMD (I thought he had been kidnapped and never found).
My mother understood basic genetics, and she knew that Tyler had inherited the allele from her, which meant that she was a carrier. I was shocked by this tragic news, and I wondered why I had been kept from the truth about my brother and uncle my whole life. More importantly, I figured that since my mother was a carrier, she might have passed to me either her normal X or X mutation ( I had a 50 percent chance of carrying the mutation).
At the doctor’s office I was given a local anesthetic, and then Dr. Clark inserted a needle through my abdomen and the uterine wall. He withdrew amniotic fluid from the envelope that surrounds the fetus. Because of the anesthetic, I did not feel much pain. The only pain I felt was in my heart because I was worried about the results of the test. My fears were justified, for the test results showed that I was carrying a male positive for DMD. My husband’s face turned ghostly white upon hearing the results, and I just wept in his arms. Dr. Clark took us into his office and sat us down.
“Can I get you anything to calm your nerves a bit?” he asked. Jeffrey and I both shook our heads. Dr. Clark walked around to his desk and sat down.
“Duchenne Muscular Dystrophy is an X-linked recessive disorder. That means that the gene for DMD lies on the X chromosome. It is the X that carries the DMD mutation. Your son received a Y from his father and an X from his mother.” Dr. Clark paused to hand me a tissue, and Jeffrey, who had been relatively quiet all day, spoke up.
“So you are saying that our child has DMD because he received it from his mother?” he asked.
“That’s right,” replied the doctor.
“How can that be? Elizabeth doesn’t have DMD.”
“That is where the recessive part of the disorder comes in. A female can carry a deleterious allele, such as the DMD mutation, without being affected. For a recessive trait, the deleterious allele must be the only one present for a specific gene, and we normally have two copies of every gene. A DMD male has only one copy of the X chromosome, and that chromosome carries the deleterious allele. Females, on the other hand, have two X chromosomes, so if both X’s carry the deleterious allele, DMD will be expressed. If, however, only one of those X’s carries the deleterious allele, it will be dominated by the normal X, and DMD will not be expressed phenotypically. We call those who carry recessive alleles carriers.”
Jeffrey looked at me. “That means Elizabeth is a carrier,” he said.
The doctor replied, “That is correct.”
“Did you know about this?” Jeffrey asked me.
“My mother is a carrier and there was an outside chance that I might be a carrier too,” I responded in a low voice.
I could tell Jeffrey was angry at me for not telling him about the possibility of my being a carrier. He paced from his chair to the door and back, trying to suppress his anger. He would not make a scene in front of Dr. Clark—he would save it for when we got home.
The doctor began to speak again. “I want you to know what you are up against so that you can be prepared to take care of this child. Muscular Dystrophy results in severe muscle wastage. Most are crippled early in life and their life spans are severely decreased. In the Duchenne form of the disease, symptoms are usually noted before the age of five. The muscles first affected are those of the pelvis and trunk, resulting in spinal deformity and a waddling gait. Wasting of practically all muscle groups may be advanced by the late teens. Death may result from respiratory weakness or from involvement of the heart muscle. Here, I want you to call this number and set up an appointment with a counselor. You are in for some trying times and you will need all the help you can get. Call me if you have any questions or concerns.”
Jeffrey thanked the doctor for his time and we left his office to head home. Jeffrey helped me get in the car, and I got a couple of napkins from the glove compartment to help soak up my tears. The atmosphere inside the car during the drive home was . . . silent. We kept the radio off, and only my sobs were audible. As I stared out the window, however, I could hear another sound. I looked over and noticed that Jeffrey had started to cry. He was not one to wear his emotions on his sleeve, so when he showed emotion, it meant that he was really hurting. I had only seen him cry twice—once when his dog Peanuts died, and once when his father passed away unexpectedly. We were both shocked and horrified, and we dealt with it in our own ways—days passed before Jeffrey and I talked about the baby at all.
The first time we did talk about it was when he got home from work on the third day following the amniocentesis.
“How are your feeling?” he queried.
“I am doing all right,” I answered.
“You know what we have to do, right?”
I knew Jeffrey would bring this up eventually, but I gave him a blank look.
“We have to abort the child,” he continued. “I do not want to bring a child into this world that will be dead before it’s even twenty years old. We cannot handle it, emotionally or financially.” He spoke with such a sure tone that I knew he had no qualms about aborting our child. I began to cry at the thought of losing a second baby, but what terrified me even more was that losing this baby would be our decision.
“I cannot lose another baby. You know how much children mean to me. I will quit my job and give the baby one hundred percent of my attention. I don’t want to give up so easily. I will care for him and love him like I had . . .”
“It’s not feasible,” Jeffrey interrupted. “Didn’t you hear what Dr. Clark said? The child will never be normal. He will be an outcast wherever he goes, just like my friend Will. He will have to be put in a special school and be given treatment for the muscle wastage. He will live in pain, and his pain will cost tremendous amounts of money. We cannot afford such expenses, especially since the probability of getting insurance for the child is almost nonexistent. You know that this new house has us in a financial bind right now.”
His argument was foolproof. He was right about our money situation, of course—he was the financial analyst, not me. Merrill Lynch had moved us around quite a bit when Jeffrey first started working for them. We had lived in New York, Miami, and Kansas City before finally moving back to Sacramento. In all of those cities, we barely had enough money (after Jeffrey had allocated some income to savings and investments) to afford our apartment. All the saving paid off, however. Knowing that Jeffrey’s current position in Sacramento was more permanent than his previous positions, we decided to dip into our savings to put a payment down on a house in Davis. I knew Jeffrey was right about financing our unborn son’s condition, but I didn’t care. I wanted to care for him like I had cared for Ryan and Nellie during my childhood. I turned my head and walked over to the couch, as my crying intensified.
Jeffrey continued his barrage. “Elizabeth, why didn’t you tell me that you might be a DMD carrier?”
I quickly responded, “I didn’t think it mattered. We were going to have a child and have the amniocentesis done anyway. I thought it would only upset you.”
He thought about my response for a minute, and then he seemed to understand and forgive me. He walked over to where I was sitting and sat down next to me.
“I told my parents this morning about the news,” I said. “They were angry that we went in for testing; they admonished me for considering an abortion and forbade me to think about it any further.”
I could tell this angered Jeffrey. His face reddened and he raised his voice slightly. “Liz, I have read up on DMD and I have seen it myself in Will. The muscle deterioration is so severe that the child will be crippled and in a wheelchair before the age of ten. The child’s life, and ours as well, will be a living hell.”
“A parent’s love is supposed to be unconditional, and I will love our child no matter what, “ I shouted back at him. It was the only response I could come up with as I stormed out of the room.
In my heart, I knew Jeffrey was right, but I did not want to tell the doctor to take my baby’s life. I had to get away from all the tension in the house, and since I still had one week of vacation left, I took the train to Newport, Oregon, where my cousin and good friend, MacKenzie, lived. She agreed to take me in for a week, and I told her about my fights with Jeffrey. I told her about the fights Jeffrey had with my parents and how they barely spoke to each other anymore.
MacKenzie consoled me all week and tried to take my mind off my child. Every night, I walked along the beach, just talking to the baby inside me. I knew the decision I had to make, but I couldn’t bring myself to tell my unborn child that I was going to snuff out his life before it even began. I finally found the strength and courage to do so one night in Newport. It was the hardest thing I ever did in my entire life—I wept all night.
I thanked MacKenzie for her hospitality at the end of the week, and I boarded the train. I was now only an hour outside of Davis and away from Jeffrey. Being away from him for a week, I had discovered that I really did love him (that at least he would never be taken from me). After all, he did not want to abort the child for selfish reasons—he always had our interests (and those of the child) in mind. He would probably be relieved at my decision, but I knew that I would never be the same again.
I was now 32 and had tried to have a child twice. Both times I had failed. I looked at the cover of the Family Circle I’d had in my hand for the last three hours. On the cover was a mother and her newborn child. I sobbed because I realized that the same thing might never be possible for Jeffrey and me.