The initial rush of deadline at the newspaper usually started to recede in the late afternoon, and that is when I set out for school. I headed down the corridor where Boston’s major hospitals were clustered, then cut across the wide manicured green lawn at the heart of Harvard Medical School. Before entering class, I liked to pause to examine the oil paintings hanging on the medical school walls. The faces of eminent faculty members stared back at me, their expressions unchanged by the passing of time.
Almost all of my fellow classmates studying in the bioethics program came from the world of medicine; they were doctors and nurses, researchers and investigators. I was a daily news reporter on the health and science beat; a storyteller, not a scientist. But we spent many hours as companions immersed in the study of ancient texts, wrestling with the moral reasoning of Hume, Kant and Locke.
The works of these philosophers laid the foundations of the field of modern bioethics. Yet often, their ideas and prose felt unyielding, as if they had been written in stone. Outside of class, I wondered how the principles laid forth in those treatises applied to the people I wrote about every day.
I soon realized how many of my own questions remained unanswered because they had never been fully considered before.
I had been following for years the story of a group of parents of children with a rare and fatal genetic condition known as Niemann-Pick disease type C (NPC). The disease causes cholesterol to accumulate in tissues in the brain and other organs. Most people diagnosed with NPC in early childhood were dead by the age of nineteen. The parents knew their children didn’t have a lot of time. As each month and year went by, the children lost more neurons; their cognitive abilities and motor skills declined.
But a group of parents had decided to take matters into their own hands and embarked on a remarkable social experiment. Although they were not trained scientists, these parents wanted to produce scientific knowledge. They shared their children’s medical records with each other, read and discussed scientific papers, and held weekly conference calls in which they listed and prioritized promising treatment leads. They convinced a few scientists and doctors working on the disease to forge an unusual collaboration with them in search of a cure.
I got introduced to the group in the first days of their collaboration. I soon realized that despite their common goal to find a way to extend the children’s lives, the parents and the scientists had different attitudes and approaches toward the production of science.
A system of research ethics had evolved over decades to protect human subjects. The existing rules, frameworks, and guidelines were not relevant to the new kind of relationship that the parents and scientists were trying to build. The people who wrote the guidelines never expected parents to drive research, organize their own experiments, or work as partners with scientists.
I wrote a series of newspaper articles about the challenges that arose as the parents and scientists worked to launch a clinical trial, testing a drug they identified and developed together. But I felt there was more to say. I wanted to write a book about their partnership but wasn’t sure how these families and their stories fit into the traditional narrative of medicine. I hoped the study of bioethics might help me figure that out.
Almost from the start, I could see how far the families had already gone outside the traditional frameworks. The rules in place were set up to protect vulnerable people from the scientists, doctors, and investigators, groups that had more power and more information than patients or families. But when the parents themselves helped design and run the experiments were they vulnerable?
When the scientists insisted that the only valid and ethical form of scientific research was the gathering of data to benefit future, not current, patients, did this truly live up to the ethical ideal of justice? I soon realized how many of my own questions remained unanswered because they had never been fully considered before.
As my studies continued, I expanded my reading to include papers published in academic scientific journals describing efforts by scientists to engage patients and communities in their work. Scientific projects were increasingly more complicated and expensive to run. Governments stepped in, providing grants to fund research. As stewards of public monies, they required that recipients demonstrate some sort of sanctioned expertise.
Professionals directed the studies, evaluated the utility of the projects, gathered the data, and analyzed and published the results. Many scientists recognized they needed help from wider society. They wanted patients and families to lobby Congress for more funding to support basic research. They needed patients to enroll in the clinical trials they organized, and to donate blood, tissue, and other samples to help advance their research. Science still revolved around questions the professionals found most interesting and they were the ones who usually ended up analyzing and interpreting what was found. Patients were viewed as potential beneficiaries, but not creators, of scientific knowledge. I kept searching for literature that might allow me to imagine a way for patients and families and researchers to build something together.
Then in one of my classes, the professor assigned us to read the short story, “Cathedral,” written by Raymond Carver. At first, I wasn’t sure why. We were often presented with examples of people confronting real-life medical problems and asked to talk about the ethical tensions. The cases almost always involved people making difficult moral choices based on limited information and acting under tremendous emotional stress—doctors trying to decide how to allocate scarce and urgently needed medicines or interventions and families divided among themselves about whether an incapacitated loved one might choose to move forward with a risky procedure whose outcome was uncertain.
“Cathedral” did not describe such situations. Instead, it was a work of fiction, a quiet story about a couple whose marriage seemed to be unraveling. The couple was down on their luck. They were still together, sharing their daily lives and their home, but they seemed distant from each other. They didn’t talk much or seem affectionate. They lacked insight into each other’s motivations, hurts, sorrows, and aspirations. Despite their physical proximity, the contours of each other’s interior lives remained hidden and opaque.
The scientists largely remained in the seat of power due to the way the entire edifice had been built.
The woman invited an old friend, a man who was blind and whose wife had just died, to come and stay with them. The narrator was curious about the man, especially because he shared a history with the woman. But he was also unsettled by the blind man’s presence and the hold he appeared to have on the woman’s emotions.
This sensation of discomfort grew throughout the visit, as the narrator realized how their guest, through careful and attentive listening, was far more attuned to the woman than he was. The blind man, he came to understand, saw the woman more clearly than her husband did.
Carver’s descriptions felt relevant to my own reporting about the partnership between the parents and scientists. Like the married couple in the story, the participants shared the same space and developed an intimacy that grew when people were witnesses to the others’ pain. But many times, despite their efforts, they still didn’t see each other clearly. Even when they tried to do things differently, to truly act as full partners, the scientists largely remained in the seat of power due to the way the entire edifice had been built.
At one point in “Cathedral,” the woman said she was going to sleep, leaving the men together in an awkward silence. They didn’t quite know how to communicate, or what they might share in common outside the woman’s presence. The narrator turned on the television and started to watch a show about the building of a cathedral. He asked his guest, “Do you have any idea what a cathedral is? What they look like, that is? Do you follow me? If somebody says cathedral to you, do you have any notion what they’re talking about?”
The narrator proceeded to try to describe a cathedral but found that his words were inadequate. He struggled to convey what a cathedral looked like to someone who had not seen one for himself. They were tall, the man offered. They were made of stone, he added. Finally, his guest suggested that instead of talking about a cathedral, they collaborate and draw one together.
The narrator retrieved some pens and paper, and the blind man put his hand over his host’s hand. They drew the shape of the cathedral. I initially thought that the narrator was the one who would determine in the end how the cathedral would look; he was the only one who had seen one, so he should have been the authority. But actually, at the end of the story, it was the blind man who realized the most important element that was missing from the picture. “Put some people in there now,” the man said. “What’s a cathedral without people?”
When I finally sat down to write my book, I did not go back to the volumes of Hume or Locke or Kant. It was the image of the cathedral that came back to me again. The parents and the scientists did not always know how to talk to each other, or find the right words to describe what they had seen and experienced. But like the people in Carver’s short story, they put their hands together and tried to draw a cathedral. They kept asking the question that had always bothered me the most: What is a cathedral unless there are people in it?
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We the Scientists: How a Daring Team of Parents and Doctors Forged a New Path for Medicine by Amy Dockser Marcus is available from Riverhead Books, a division of Penguin Random House, LLC.