Walking in there for the first time was as scary as hell. There were no private rooms, just curtains separating kids—about ten of them—all in perilous situations and fighting for their lives. The nursing station was central so that the staff could be at a child’s bedside in a moment. Dazed, weary parents talked in hushed tones, and the kids were in drug-induced comas, resting while their hearts healed. It was an eerie quiet, interrupted only by the frightening, panicked clamor of pumps, machines, alarms.
On the morning of his surgery, we brought Henry to the hospital before the sun rose and sat with him until the anesthesiologists approached. They tickled him. They smiled at him. And then before we knew it, they were gone. With Henry.
We sat in the waiting room, waiting. Surrounded by untouched food, unopened magazines and books, our parents and my sister, we just sat. There was nothing to talk about other than the obvious, and we saw no point talking about that. So we sat in silence, and we waited.
With each major step, a nurse came to inform us of Henry’s progress. He’s under anesthesia. He’s on oxygen. I was so scared, I honestly didn’t know if I would get through it. When the nurse came to tell us he was on the heart-lung machine, all I heard was: His heart isn’t beating. Their hands are in there. They’re touching his heart. But then she returned, a few hours after it had begun, to tell us that he was off the heart-lung machine; that his heart was working again. He was being brought to the recovery room. He is alive! I don’t know if those words actually passed my lips, but the way I remember it, I yelled it more loudly and joyfully than anything I had ever shouted before.
Even if I had spent months in that pediatric intensive care unit trying to get comfortable with the images and the reality of what Henry would have to endure, nothing would have prepared me for what I saw when Henry first came out of surgery. It was terrifying. His whole body was swollen and his skin looked like it was made of plastic. White surgical tape held his oxygen mask in place. Dozens of tubes ran into and out of his body. The bandages covering his chest were soaked in blood. It was, as of that day, the most horrifying image I’d ever seen.
I leaned over his tiny body. “Please get through this,” I whispered to him. “I know it’s only been five months, but I can’t remember my life before you.”
Henry spent the next few days in his hospital bed, between two curtains that we could close for some privacy. He wore nothing but a diaper and lay completely motionless in a drug-induced paralysis. We could not hold him or hug him. We could merely stand there and stare and hope he’d wake up. There were lots of monitors beeping and flashing, recording his oxygen level and heart rate and blood gasses and, I imagine, other stuff. I studied the numbers, the charts, and the levels, trying to understand what they meant, what they could tell me. Hoping, desperately, that he was improving.
On the second morning, Allen and I arrived at the ICU and saw that the incubator next to Henry’s was empty. I asked the nurse on duty what had happened to the newborn baby who was there the night before. It was a stupid question, perhaps, or at least an obvious one. The bed was stripped of its sheets, the medical equipment shut off. The nurse told us the boy’s name: Henry. I felt a sharp pang of sadness for the tiny boy’s parents, for his unlived life.
Over the next few days, my breasts ached from the desire to feed our Henry, but my milk had dried up because I was unwilling to leave his bedside to pump milk that he was too weak to drink and that would just be thrown away. For the time being, his nutrition was delivered through one of the many tubes pumping fluids into and out of his tiny body. Were it not for the machines that indicated to the contrary, I would have thought he was dead.
We stayed as long as we could each day, until the nurses told us to leave. They’d gently shoo us out the door, and we’d stumble next door to the hotel, lay down on top of the scratchy, polyester comforter, clutching the pager they’d given us in case something went wrong.
But nothing went wrong. In fact, everything went right. Ten days later, Henry was well enough to go home. Dr. Jonas informed us that the surgery had gone perfectly. Henry was not in pain, and the fear that he could turn blue was erased from our lives. Walking back into our home, with our heart-healthy son wrapped in the blanket my mom had knitted and presented to me at a baby shower that seemed like a lifetime ago, was definitely one of the best days I’d had in what felt like a very, very long time.
The fact that Dr. Hougen had been right about the 99 percent success rate associated with Henry’s surgery greatly boosted our confidence in the team of doctors we had begun to assemble to treat his FA. It also made me feel more comfortable about the idea of returning to work. Four months before Henry was born, I had earned my master’s of social work (MSW) at Catholic University of America, giving a graduation speech to my fellow students about the critical need and our obligation to help repair the world we’d inherited. Afterward, I accepted a job at a national nonprofit housing organization, Neighborhood Reinvestment Corporation, to focus my attention on increasing the availability of affordable housing. That they hired me while I was clearly pregnant was predictive of the way they treated me when I became the mother of a beautiful, very ill, little boy.
After my maternity leave ended, we entrusted six-month-old Henry to the care of Allen’s parents, Phyllis and Ted, affectionately known as Grandma and Pop Pop Teddy, and I returned to work several days a week. I had mixed feelings about this. Henry was totally healthy by then. Other than monthly tests to check his complete blood counts (CBCs), which evaluated his overall health and attempted to detect a wide range of disorders, including anemia, infection, and leukemia; and a semiannual bone-marrow aspiration and biopsy to check on the progress of his disease, he was a normal, spunky kid. But I still found it hard to leave him each morning. Every day on our way to work, I’d remind Allen not to let me quit my job. I knew I just needed time to get used to being back at work. I always told myself that 99 percent of women in the world had to work to earn money (a statistic I’m quite sure I made up), and so I too would work, and not feel sorry for myself. Plus, I honestly loved my job, my work, and my colleagues. They were among the most supportive, terrific group of people I knew, and I also felt strongly about the work my organization did to help house low- and moderate-income families.
Henry, as mellow as he was, probably had much less conflicted feelings than I about the matter. He adored Grandma and Pop Pop Teddy, who would make the twenty-minute drive to our house every morning. Ted would go to work while Phyllis spent the day with Henry. She had been recently diagnosed with malignant melanoma and felt a special bond to her grandson, whose constant smile threatened to make her forget her own plight. She loved to read to him, Babar especially, and afterward, the two of them would gather on the couch to watch Wallace & Gromit cartoons.
When we returned home at the end of the day, before Allen or I could even take our coats off, Phyllis would convey, in painstaking detail, all of Henry’s extraordinary accomplishments over the last eight hours. One evening, as I listened to her recall stories of their trip to the park, and the people’s hearts he had won over, I looked over and noticed that he happened to be wearing yet another new, hand-knit sweater with little woolly sheep that she had just made for him. We were incredibly lucky to have such a wonderful mother nearby who would volunteer to babysit our son and relish every moment of it.
In May 1996, not long after Henry turned six months old, we found out that I was pregnant. Like any couple trying to become pregnant, we were euphoric. But fear and uncertainty quickly crept in. Instead of calling our parents to share the good news, our first phone calls were to our doctors.
A few hours after learning that I was pregnant, I was sitting in the dining room when the phone rang. It was Dr. Arleen Auerbach, a preeminent Fanconi researcher. Everyone with a child diagnosed with FA knows to call Dr. Auerbach first. Toiling behind the beautiful gates of Rockefeller University’s ivy-drenched castle on New York City’s Upper East Side, Dr. Auerbach, who manages the Inte
rnational Fanconi Anemia Registry, knows nearly all one thousand FA patients and their families. When Dr. Rosenbaum saw Henry’s extra thumb at birth, a defect occasionally associated with Fanconi anemia, he sent a blood sample to Dr. Auerbach, and it was she who had diagnosed Henry with the disease.
We spoke for a long time, and when I finally hung up the phone with her, I felt stunned. And elated.
“Allen!” I yelled to my husband, who was upstairs. “Can you come down here? Like right now!”
A few minutes later, he walked into the sun-filled dining room, where I sat, still in my pajamas, the phone in my hands.
“What’s wrong?” he said. “You all right?” He sat down across from me.
“Listen,” I said, trying to compose myself. “What would you say if I told you that we could get pregnant and know that our baby was going to be healthy?”
“Well, isn’t it a little late for that?” asked Allen.
“Seriously, just tell me. What would you say?”
“I’d say sign us up,” he said, confirming the obvious.
“What if we could also know that the baby was a bone-marrow match for Henry?” I added.
“I’d say we’d found the golden ticket,” he replied.
“Well, I think we just did. It’s called PGD.”
As Dr. Auerbach had explained to me, PGD, or preimplantation genetic diagnosis, was a cutting-edge, newly available process that could allow us to know at the moment of pregnancy that our next baby was both healthy and HLA-matched to Henry. Dr. Mark Hughes, the chief of the Section on Reproductive and Prenatal Genetics in the Diagnostic Development Branch of the National Center for Human Genome Research at the National Institutes of Health; professor of medicine, pediatrics, and OB/GYN at Georgetown University Medical Center; and a pioneer in the field of reproductive genetics, specifically in single-cell genetic analysis, had figured out a way to combine in vitro fertilization with genetic testing conducted prior to embryo transfer. PGD would enable us to identify and implant an artificially conceived embryo that was not only healthy, but who could also be Henry’s savior. By collecting this healthy baby’s umbilical cord blood at birth and transplanting the stem cells to Henry, our baby could cure Henry’s blood disease.
“Preimplantation genetic diagnosis.” Three words that, strung together, are easily passed over like so many medical terms that can be mistaken for a foreign language. Individually the words are powerful. “Preimplantation.” Before implantation. Before becoming my baby. Insurance against ever having to consider abortion. “Genetic.” Inherited. In this case, a disease best expelled from our gene pool. “Diagnosis.” Certainty. A guarantee that Fanconi anemia could never again threaten to destroy one of my babies. Together these words formed a profound source of hope and dominated our life. And the shorthand, PGD, became part of our family vocabulary.
Dr. Hughes had used PGD in the past to screen embryos for fatal childhood diseases like sickle cell anemia and cystic fibrosis, enabling parents to know at the outset that their babies would not be born with a disease. But neither he—nor anyone else in the world—had ever used PGD to find a perfect HLA match, from whom umbilical cord stem cells could be harvested and thus save a sibling.
“In other words, we’d be the first?” Allen asked me.
“Apparently so.”
“Wait. Let me get this straight. We’d be the first, ever, anywhere?”
Preimplantation genetic diagnosis involves the biopsy of one or two cells from an eight-cell embryo, typically on the third day following egg retrieval, as part of an in vitro fertilization cycle. The biopsy is performed in a laboratory by making an opening in the outer “shell” of the embryo with a micropipette. One or two cells are extracted through this opening in an extremely delicate procedure. Once the embryo has been biopsied, it takes about forty-eight hours for the genetic testing to be completed before the embryo, which remains in a lab and continues to develop to the blastocyst stage, must be transferred to the woman’s uterus to be able to produce a viable pregnancy.
The extracted cell(s) are analyzed to determine the genetic composition of the embryo. These tests can determine the presence of Down’s syndrome or trisomy 21, among other chromosomal abnormalities. Testing can also be done for couples known to carry diseases caused by a single gene abnormality, such as FA. To determine whether an embryo has FA, a technique known as a polymerase chain reaction (PCR) is used to replicate the targeted gene. These copies are examined for evidence of a particular DNA sequence that reveals the presence or absence of FA. The results of preimplantation genetic diagnosis are used to inform the selection of embryos for transfer to a woman’s uterus, enabling her to begin her pregnancy with the knowledge that her baby will not possess the life-threatening childhood disease.
It has been more than a decade since physicians like Dr. Hughes have used PGD for disease prevention. Today, approximately one thousand babies have been born using this technique. But in 1996, when we began talking with Drs. Auerbach and Hughes, PGD had never been used to test for HLA type or any other trait that was not a matter of survival to the embryo being tested.
Dr. Hughes had agreed to offer PGD with HLA typing to FA families who met several very specific criteria. First of all, the mother had to be under thirty-five years old; at the time I was thirty-one. Younger mothers typically produce more eggs in the process of in vitro fertilization and therefore have a greater likelihood of success. They also have a lower risk of producing eggs with abnormal chromosomes. In addition, Dr. Hughes would work only with families who had already expressed an interest in having additional children, meaning that the baby born through this technology would be wanted, independent of its ability to save its sibling’s life. My current pregnancy was proof that we were determined to continue to grow our family, despite Fanconi anemia. Last, the family had to have the FA-C, IVS4 Fanconi mutation, because it was the only type of FA for which the gene had been discovered, and therefore was the only type of FA that could be diagnosed through PGD.
Allen, Henry, and I were one of only two families who met the criteria.
If we pursued PGD, Allen and I would be entering completely uncharted territory. As the first people in the world to use this technology for this purpose, there was no precedent, no books or articles to read, and no support groups. There were no established ethical guidelines or government or industry regulation of PGD. There would be no guarantees except that the unknown held possibilities that otherwise eluded us. Henry’s open-heart surgery was behind us, but a bone-marrow transplant with a dismal survival rate awaited. I was in my first trimester of pregnancy, with eight weeks to go before a prenatal test could tell us whether the child I was carrying had FA. PGD was our lifeline out of this horror.
We would wait for the results of prenatal testing that would determine whether the baby I was carrying was healthy. If so, regardless of HLA type, we would continue the pregnancy. As first-time parents of a baby newly recovered from open-heart surgery with inconceivable hardship on the horizon, we didn’t have the luxury of time, energy, or imagination to figure out what we would do if our second baby was struck with FA. But we were grateful to know that we had choices.
Allen and I carefully considered the ethical implications of PGD. We had so many things to consider and so little information. We were determined to protect and advocate for Henry, and for our future children, while also honoring our values and those of the broader community in which we lived.
For more than half a century, prenatal diagnosis through procedures like amniocentesis and chorionic villus sampling has enabled couples to screen their fetuses for genetic disorders. Since that time, couples like us have faced the difficult dilemma as to whether to proceed with a pregnancy based on these test results. The fact that PGD screens embryos in a test tube before implantation, not fetuses already growing in the womb, held tremendous appeal. Allen and I were both pro choice, but we did not want to have an abortion, particularly to avoid having another child like Henry. We
were eager to use PGD to ensure a healthy baby.
We also understood that PGD inevitably would result in the creation of embryos that would not be selected for implantation. This was true for almost any couple undergoing in vitro fertilization, where robust, healthy-appearing embryos are implanted, and those that are failing to develop are not. Of course, people who regard embryos as human beings object to creating and discarding embryos in the first place, and are most certainly opposed to IVF and PGD. But IVF is permissible in our society and is pursued by tens of thousands of couples each year. As a result, thousands of embryos are implanted while others are either cryopreserved for future use, donated for medical research, or discarded. Embryos created through our experience with PGD would face a similar fate. While we strongly believe that embryos deserve special respect, as they are cells with the potential to develop into humans once they are implanted into a uterus, we did not view them as people. This mass of undifferentiated cells does not resemble a human being. It cannot reason, and it cannot survive outside of the womb. In contrast, Henry was alive; he could think, feel, smile, and laugh. Also, since we wanted additional children, we would be able to freeze the excess healthy embryos and use them for a future pregnancy.
Testing for HLA—a trait that was critically important to the success of Henry’s stem-cell transplant, but not to the survival of the potential child we were testing—was different. Applying PGD in this way was brand-new. It had not yet undergone extensive ethical review or gained the status of moral acceptability. Together with our doctors, we would have to set our own course through this medical frontier.
Saving Henry Page 4
