In spring 2005, when I was 26 years old and a graduate student at the University of Iowa, my husband and I received news that permanently changed our conversation about having children. Dan and I both knew that a genetic disorder ran in my family: X-linked hypohidrotic ectodermal dysplasia, or HED. I had chosen to be tested, and for several months, we had waited with unspoken fear for the phone to ring. I'll never forget the rainy April day when the call finally came from Beverly, my genetic counselor. I answered, then held my breath.
“The test came back positive, Bonnie,” Beverly said sadly. “You're a carrier.”
I wanted to respond, but I could only swallow.
“Listen,” Beverly said in the caring voice I had come to trust. “You and Dan have told us that the cost of in vitro might be out of reach for you. You need to know that no one here will ever judge you if you choose to terminate a pregnancy. We can help you with whatever procedures you choose.”
I understood at the time that the X-linked inheritance pattern for HED usually meant—as it did in my family—that female carriers are unaffected or mildly affected, while males who inherit the mutation are fully affected. Because HED ran in my family, I was able to tell Dan about it before we were married. The disorder was primarily characterized by the absence of sweat glands, hypodontia with misshapen and often pointed teeth, nasal deformities, sparse hair, and sensitivities of the skin and respiratory system. From the National Foundation for Ectodermal Dysplasias, we learned that HED is the most common among about 150 ectodermal dysplasia syndromes, which in sum affect an estimated 7 in 10,000 births.
Eventually, I would write a book, Carrier: Untangling the Danger in My DNA, to tell the story of how Dan and I became the parents of healthy children. I would describe how it felt to desire children at the same time that I understood that with my genes, I posed to them serious, life-altering risks. Writing Carrier would give me a chance to show how it felt to face a series of complex and profound medical decisions with no clear right answers.
But first, we had a journey to undertake.
My grandfather, Earl, suffered from HED and died of indirect causes at age 49. As an adult, he suffered not only the physical discomforts of HED, but also the personal problems—including addiction—of a man who always felt he needed to prove himself after growing up as a “small-town oddity.” Those were his own words, as he phrased it to a psychiatrist in the midst of electroshock therapy, which, perhaps unsurprisingly, failed to right his life. As the daughter of this tender, brilliant, but deeply troubled man, my mother suffered, too. Both of their stories became important to me as I weighed whether, and how, to avoid passing HED to my own children. To make emotional matters more complicated, my brother, Luke, had been born fully affected by HED. As we grew up together, I saw what it was like for him to navigate the physical, emotional, and social challenges of being different. But overall, Luke handled the disorder so well, and our family was so accustomed to it, that in some ways, despite my grandfather's tragic story, I had stopped seeing how serious this disorder could be. But in the early years of my marriage, Dan's gentle questions and concerns reminded me that there was more to consider.
For us, genetic testing was only the tip of the iceberg. Beneath the water loomed a mountain of individual information: Who were we as a family? What were our experiences with this disorder? What had life been like for HED-affected children we knew, and for their parents? And who was I? What were my core values about life and body and motherhood? Who were Dan and I as a couple, as future parents, and as modern individuals with choices our parents and grandparents never even imagined?
Dan and I soon decided that we wanted biological children, and we wanted them to be healthy. Did that mean we would put off parenthood, saving for years for in vitro fertilization and preimplantation genetic diagnosis? Or would we try for parenthood right away, with a painful 25% possibility of abortion planned into every pregnancy?
To answer some of these questions, Dan and I decided to travel into my family's past. Together, we drove around the American West piecing together the story of my grandfather's life, all the while interviewing family members about his life story. Comparing my grandfather to my brother, who handled HED with such grace, I wondered where to find the prophecy for my own children. What if I peered into the wrong crystal ball? As I worried about this, anti-abortion billboards from a group called Prolife Across America kept popping up along the highways: chubby babies spouting facts about fetal development. I knew propaganda when I saw it, but I still felt confused and worried.
In the middle of Nebraska, I called my friend Jen, a psychologist. As she listened, I kept tracing and retracing my dilemma. “I just don't know what I should do,” I finally blurted. Jen's calm response has remained with me ever since: “Instead of asking what you should do,” she said, “try asking yourself what you want to do—and how you'll feel if you do it. Your answers are inside of you. Not in someone else's expectations.”
When Dan and I returned home—by then Minnesota—we started working with a new group of genetic counselors, doctors, and nurses. I began to notice consistencies behind the most supportive of my caregiver relationships. Without overestimating their influence over decisions that clearly belonged to us, these caregivers found appropriate room to help us avoid emotional quicksand by giving words to our difficulties. “Choosing can be hard,” a geneticist acknowledged. “At times, you'll probably feel alone,” a maternal-fetal medicine doctor said, nodding gently. “This reminds me of a story,” a family practice physician began. And eventually, a genetic counselor said with calm eye contact: “What you choose to do matters less than the way you will feel about your choice.”
By listening to our worries and then sharing insight, these caregivers empowered Dan and me to make the decisions that would bring us to parenthood. Finally, 2 years after receiving my test results, Dan and I felt ready to simply and honestly voice our own deepest desires: Among our imperfect options, we preferred a natural conception, with prenatal genetic diagnosis and the possibility of termination. Together, we wrote this down.
This was the preparation I needed to keep me from crumbling in shame when I would later experience judgment from people with anti-abortion agendas, including a young male ultrasound technician. I came under this young man's care for an early dating sonogram ahead of chorionic villus sampling in my first pregnancy in 2006. “Why are you doing CVS?” he casually asked as he squirted gel onto the transducer. I explained that I carried a genetic disorder, and we wanted to make sure our baby would be healthy. He said nothing then, but a moment later, he turned up volume of the heartbeat of my first fetus, at that point only 8 weeks along. A percussive whooshing filled the room. The technician looked at my face as I lay on the table and he said, “That is the heartbeat of your baby.”
It turned out he would be right—it was the heartbeat of my first child, Josephine, a healthy daughter who would be born in spring 2007. But as I lay with my face burning in the ultrasound room, I knew there was a chance, depending upon test results, that we might choose to end that precious sound.
In late 2008, when Josie was 16 months old, I became pregnant again. This time, with another heartbreaking telephone call from a caring genetic counselor, Dan and I learned we had conceived a male affected with HED. At 13½ weeks gestation, on a black, frigid, and snowy Minnesota morning, Dan and I drove to the hospital for my abortion. Just before linking mittened hands and walking through the hospital doors, we agreed that this wasn't necessarily the hardest thing we had ever done. But it was absolutely the saddest.
A year and a half later in 2010, our family was living in Amsterdam, Netherlands, and Dan and I began considering a third pregnancy—a sibling for Josie, who was now 3 years old. I consulted with Dr. Merel Van Maarle, who would be my geneticist at the Amsterdam Medical Center. Having already had two pregnancies and one abortion without regrets, I felt ready to try another natural conception. But something was different in the Netherlands: most abortions performed, even beyond the first trimester, were medically induced miscarriages—not surgical procedures such as the D&C I had experienced before. I found myself once again in an initial information-gathering stage. Even though induced miscarriage was clearly the more typical choice for Dutch couples in our situation (IVF with PGD was a rare option requiring review by a university-based ethics committee), the idea of an unfamiliar method scared me. So, sitting across the desk from Dr. Van Maarle, I asked bluntly: “Which procedure do you think would be better?”
I expected her to dismiss my question. But instead, I received a gift: “Well, of course I can't know for you,” she began. “But I'll tell you about another patient I had. She had both procedures, and she was worried, too, about which would be best for her.” Dr. Van Maarle told me that this patient eventually decided she preferred the induced miscarriage. She found it more natural for her body, and overall less disturbing. I connected deeply with the idea of a pregnancy coming full circle in a physiological sense, even for a termination. There's no way I could ever know who that other patient was, but her story blended with the rest of my experience in a way that helped me to feel comforted about the possibility of an abortion in a foreign land by a different method than I had known before. That comfort was the courage I needed to begin another pregnancy.
That pregnancy resulted in our second child, Louisa—another healthy daughter—who is now 2 years old. With standing curls like fiddleheads, sparkling brown eyes, and a laugh like a robin, she's utterly disarming. Depending upon how you see things, she's either an acrobat or a hooligan. She loves to pedal, sprint, swing, hang from the windowsill, jump down the porch, somersault across the wood floors, flip over the back of the couch, belly-flop from the headboard, balance on her big sister's chest…the list goes on. She loves to make us laugh.
Josie is now 6 years old and swims the pool from end to end, reads and writes (even a little Dutch), and cycles from ridge to sea, all the way across our Seattle neighborhood. She makes up long, loud improvisational songs that rhyme. She built a Hawaiian beach diorama out of the candy from her Christmas stocking, is attentively incubating a stone in case it might hatch, and she understands at her very core that every human will someday die. She's a profoundly gentle child, deeply intuitive and peaceful and nurturing.
It should be clear to anyone with a genetics background that both of my daughters risked being born carriers of HED. At a certain point, Dan and I decided to delay obtaining that information. With our guidance, perhaps our children would approach genetic testing on their own someday.
Still, I can't put the possibilities out of my mind.
I often guest-lecture at universities and conferences, give public readings, and meet with small audiences such as book clubs and groups of medical professionals. In these settings, after depicting the emotional sea, ethical struggle, and eventual triumph that genetic choice can bring to hopeful parents, I have been asked this: Don't I sometimes wish we could go back to a time when we simply couldn't have genetic information? Not our own, nor that of our fetuses or children? Wouldn't it be easier to go back to the way it was for previous generations, when God or fate could be named responsible for health outcomes?
My answer is always no.
It's true that right now with the genomics revolution, we find ourselves in an uncomfortable no-man's land between learning how to extract information from our DNA and figuring out how best to use that information. But even though a generation or two will feel the discomfort of difficult ethical problems, it's critical for us to grapple through this stage in order to reach new therapies, treatments, approaches, and cures.
A few months after Carrier was released, a small drug company in Boston called Edimer Pharmaceuticals contacted me. They wanted to tell me about their work to develop an uncomplicated, non-invasive treatment that could allow HED-affected babies to develop normally. Today, Edimer is seeking subjects for human trials for this treatment, called EDI200. As a mother, I feel fervently hopeful: Perhaps the next generation of carriers will have the no-brainer solution I desperately wanted. I've even imagined the phone call from a genetic counselor of the future: “The test came back positive—your fetus has HED. And there's a fix for this.”