A Life Everlasting

by Sarah Gray

  Michael Vitez joined us in the cab for the ride over to Penn, where Maiken Scott of radio station WHYY—I’d contacted NPR, too—and her photographer, Kimberly Paynter, met us. Joining us was Philadelphia Inquirer photographer David Maialetti. It was quite the media crowd.

  Jessica Ebrahimzadeh, a genetic counselor working in Dr. Ganguly’s lab, and senior science communications manager Karen Kreeger were waiting for us. It was a sprawling complex, and we were led through the labyrinth of hallways and elevators to Dr. Ganguly’s fourth-floor lab in the Anatomy Chemistry Building. When we got to the conference room, Dr. Ganguly’s staff and yet another photographer—this time from Penn—met us.

  Dr. Ganguly had not yet arrived, so I took the opportunity to introduce myself to everyone else. “Thanks for having me,” I said. “It’s an honor to be here, so thanks for letting this happen.”

  I sat down next to Jennifer Yutz, the lab manager. “Do you remember Thomas’s tissue coming here?”

  “I do, yes.”

  “Did it come in Styrofoam or a cardboard box?”

  “Either.” Her hesitation made me realize that no one had ever asked Jennifer these questions before.

  “Did it say Human Eyes on the side?”

  There was a ripple of nervous laughter in the room.

  “It did, yes,” Jennifer said, with a smile.

  Eventually Dr. Ganguly arrived, and she quickly set about explaining why it was so important to have received Thomas’s donation. It had been the first healthy infant retina sample her lab had ever received, and it was vital to her work.

  In order to understand the uncontrolled cell growth of cancer, Dr. Ganguly needed to be able to compare diseased eye tissue with healthy eye tissue. She had samples of diseased tissue, but, as she put it, “there is no normal situation in which one can get a healthy sample.” In other words, a child had to die for her to get what she needed to complete her study. I remembered James Selby Jr.’s poem from the donor family gathering:

  For me to live,

  you had to die.

  While my family rejoiced,

  your family cried.

  But it wasn’t just that a child had to die. The logistics of collecting the tissue—which had to be done within four hours of the death, with the tissue then placed in a particular solution so that the DNA and the messenger RNA (mRNA) were not degraded—made viable healthy samples very rare.

  “Please don’t feel guilty about it,” I said. “You didn’t make my son die.”Then I repeated for all to hear what I’d said to her during our initial phone call: “If you didn’t have his tissue, it would be in the ground not doing anybody any good.”

  Dr. Ganguly smiled. “That is a relief to hear. Thank you, Sarah. When I first learned that you wanted to come here, it immediately changed my perception of my work. When we received the sample in 2010, it was simply entered into a database and assigned a number. Thomas is RES360. It’s completely impersonal. But now, here is a mother who has lost a baby boy. It made me sad, because now this sample that had been so good for my research was connected to a deceased child. Then I wondered how I would react. Would you like to know what we did with your son’s eyes?”

  “I’m happy that you have them,” I said. “Share what you learn with the medical community, and share it with us when you can. If you get published, that would be cool.”

  I gave Dr. Ganguly a framed photo of Thomas, like the one I had given Bill Leinweber, with a brief inscription commemorating the date of this visit.

  Thanking everyone for their time, Dr. Ganguly took us to her lab.

  As we walked down the hall, Callum ahead, and I heard him say, “Oh!”When I got there, I found him with his arms wrapped around a large inflatable dinosaur, a surprise gift from Dr. Ganguly. He didn’t lose the smile—or let go of that dinosaur—for the rest of the visit.

  Back at Dr. Ganguly’s office, Jennifer Yutz joined us again and showed me a black-and-white marbled composition book. “This is our log book. We make an entry for each sample that we get.”

  Jennifer opened the log book to a page with an entry for March 30, 2010. As the 360th specimen the lab had received, it was assigned the number RES360.

  “Oh my gosh, that’s him! Ross, look at this!”

  There was Jennifer’s handwriting; she had personally recorded Thomas’s donation.

  Then they showed me the FedEx envelope that Thomas’s retinas had arrived in.

  “Can I make a copy of these?”

  “We have copies for you.”

  That shipping label felt like an heirloom to me.

  Jennifer Yutz said, “Come with me.” We walked back through the lab toward a freezer across from a bank of student lockers.

  Jennifer put on thick blue rubber gloves before opening the door and then pulled out a tray holding 1.5-milliliter vials. There appeared to be hundreds of them in that freezer. Jennifer pointed to two of them. “There,” she said. I leaned closer. “Careful, don’t touch.” The ambient temperature in the freezer was minus 80 degrees Celsius, or minus 112 degrees Fahrenheit. (That’s about 100 degrees Fahrenheit colder than the threshold for getting frostbite.) “That’s the RNA that we isolated from Thomas’s retina tissue.”

  When I looked closely, I could see the handwriting in blue ball-point ink.

  “RES360.”

  That was it. That was Thomas’s donation in those little tubes. They had saved some of his tissue because it was so valuable, and they hoped to use it again in the future.

  RNA in a test tube is like a turtle on a fence: you know it didn’t get there by itself. At that moment, I thought of all the people who had worked together to make it happen. Counting professionals connected with Inova, WRTC, ODEF, NDRI, and Penn, there were at least twenty-five people who worked together to make those little vials possible—not counting the people who helped improve and contribute to these processes over the course of more than fifty years of research. There was the person who invented the preservation solution; the person who figured out how to recover eyes; the person who figured out how to extract RNA; the people who founded WRTC, NDRI, the Lions Clubs, Old Dominion Eye Foundation, the Penn Genetics Diagnostic Laboratory. The list was long.

  It was a lot to take in, and not just for me: the lab staff had never met a donor’s family before. I think we all needed a moment to take a deep breath. I had preordered lunch for the staff and the media, so we filled our plates, ate, and relaxed. I passed around the book of photographs of Callum and Thomas that I’d made for Callum and the memory box that contained Thomas’s handprint and medical bracelet.

  I asked some of the staff how they got into this field in the first place. One person said that when she was little she had been given a kit that showed you how to get DNA out of a strawberry—DNA you could see with the naked eye. Just when I thought she must have been the most science-focused kid in the world, two of her colleagues chimed in that they, too, had the strawberry DNA kit as a child. I realized then that these people were really in the right job. Dr. Ganguly told a story about getting hit by a car on the way to lunch, and still attending the U.S. Supreme Court to watch the proceedings of a historic case about patenting genes in which she was a plaintiff.

  “You lead an exciting life,” I said, and noticed that the staff all nodded and laughed in a way that betrayed their affection and respect for their colleague.

  Further evidence of the passion of these amazing people came when someone chimed in that they intended to offer Callum an internship.

  “I won’t be here by the time he’s ready for that,” Dr. Ganguly said, but she had a smile on her face that seemed to say she would, in fact, make sure she was around then.

  “I will be around,” Jennifer Yutz said. “I love it here. I’m not going anywhere.”

  And with that, it was time to serenade the birthday boy with a rousing rendition of “Happy Birthday.” Callum blew out a candle, then tucked into his favorite treat—a sticky cinnamon bun. The staff even gave him a toy scienc
e kit with goggles and beakers.

  We all got gifts that day. Callum got his dinosaur and his sticky bun; the scientists got to put a real name to RES360; and Ross and I got to share in the wonder yet again of what Thomas’s gift was doing—not just for these researchers, who had waited so long for someone like him to come along, but for all the patients in the future whose vision, and maybe even lives, would be saved.

  March 29—the date Thomas died—is a tough one for me. I want to recognize it because it’s a day that changed our lives profoundly. I don’t exactly want to celebrate it, but ignoring it and doing nothing doesn’t feel right, either. Fellow bereaved mom Anna Whiston-Donaldson, the author of Rare Bird: A Memoir of Loss and Love, calls the anniversary of the death of her son the “Crapiversary,” which sounds about right.

  But Sunday, March 29, 2015, had at least this to recommend it: Michael Vitez’s article about our visit ran in the Philadelphia Inquirer and on its companion website, Philly.com, that day.

  Five years after Thomas’s death, something good was happening on this day. Quickly, the story of Thomas Ethan Gray spun around the globe; the story eventually received more than one million clicks. I had contacted the local media only because I thought it might inspire people in Philadelphia to appreciate what was happening in their hometown, and also to perhaps register to donate. I was surprised and delighted that the story of my son resonated with such a wide audience all over the world.

  Dr. Ganguly said that there is no normal circumstance that would make the tissue of a healthy child available. In other words, she considered the death of a child somehow abnormal, and I disagree. Although we might not always talk about it or hear about it, children and babies die every day of trauma and diseases. According to the CDC, more than nine thousand children under the age of fourteen died in the United States in 2013. We don’t know how many of them donated healthy retinas for research, but we do know that Dr. Ganguly didn’t receive any that year despite being on the waiting list for years. My hunch is that the number of donations was zero, because parents are not aware that they need to proactively ask to donate.

  This was about to change.

  CHAPTER THIRTEEN

  Who Was Afraid and Why

  At every step of my journey to track down my son’s donations to research, I willingly and enthusiastically shared my information, and the researchers I met seemed open to meeting me and to sharing what they were doing. But it seemed like I kept bumping up against confusion around confidentiality rules, and I wanted to know why.

  The history of medical research is peopled with thousands of well-intentioned researchers looking to improve the health and well-being of mankind, from Dr. William Halsted’s discovery of the antiseptic method, which revolutionized modern surgery by making it largely survivable, to Jonas Salk’s discovery of the polio vaccine, and beyond. But in a world of people doing good work, sometimes the bad seeds get the most attention and tarnish the reputation of the field. For example, some of the worst cases include the inhumane experiments conducted by Josef Mengele at Auschwitz; the human guinea pigs who suffered the dire effects of untreated syphilis in the Tuskegee experiments; and the unwitting contribution made by Henrietta Lacks that was famously documented in Rebecca Skloot’s The Immortal Life the Henrietta Lacks, the book I was reading when I was waiting to see the psychic Kizzy in Scotland.

  But those are the exceptions. The vast majority of research being conducted today is, as Jeff Thomas of NDRI says, “for the betterment of mankind.”

  And yet the sometimes overly restrictive rules—or simply the wary attitudes—continue to get in the way.

  Unless consent is obtained, when organs, eyes, tissues, and blood are donated for research, all identifying descriptors are removed, and the donations are assigned a number. But they can be re-identified if needed; that’s an FDA requirement. If the tissue ever needs to be recalled because of an infectious disease scare, say, the donations in question must be tracked as a matter of public safety.

  Traditional research practices include keeping all participants’ identifying information confidential: researchers receive de-identified donations. Living donors or authorized parties sign consent forms stating they understand that they will not receive results of any scientific study made using this donation.

  The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research, published by the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research in 1979, established the guidelines for research on humans, which were in turn adopted by the National Institutes of Health. And it was based on these regulations that The Federal Policy for the Protection of Human Subjects—also known as “the Common Rule”—was published in 1991. The Common Rule stipulated requirements for assuring compliance by research institutions, for obtaining and documenting informed consent, and for the creation of institutional review boards, or IRBs.

  An IRB must be established by any institution “sanctioned by the Federal Government to conduct research” from its own faculty as well as nonaffiliated nonscientists. Further, “any study involving research on human beings must go through the IRB.”

  The intention was that IRBs were to protect research participants from fraud and abuse. However, IRBs also have their downsides. As Steven J. Breckler, executive director for science of the American Psychological Association, has said, “Increasingly, we hear horror stories about IRBs that are imposing incredible burdens on researchers, creating bureaucratic nightmares and otherwise hindering the progress of research.” Rather than furthering research, IRBs can lean toward simply protecting academic institutions from lawsuits—CYA (cover your ass) run amok.

  In fact, Carl E. Schneider, professor of law at the University of Michigan, recommended in his 2015 book, The Censor’s Hand: The Mismanagement of Human-Subject Research, that IRBs be completely eliminated because they tend to delay or distort research that could otherwise be helping advance scientific discovery for the betterment of patients.

  In response to a history of complaints about inappropriately shared medical records, the Health Insurance Portability and Accountability Act of 1996—known as HIPAA—was passed, leading to the U.S. Department of Health and Human Services issuing their “Standards for Privacy of Individually Identifiable Health Information.” These standards ushered in a new era in which patients began to see their medical records as their own, and not the property of their doctor. Before HIPAA, a doctor might give a copy of a patient’s medical record to the patient’s employer or spouse, or even to a fellow physician. A doctor was even allowed to call a patient’s voice mail at work and leave a recording including sensitive test results and medical information. HIPAA stopped all that, instead putting discretion in the hands of the patients.

  So HIPAA now allows patients to request their medical records at any time, and to request a list of people who have accessed their electronic medical records. Patients also have the right to submit a correction if there is a disagreement about a doctor’s statement. Health-care providers are not permitted to share medical information with an employer or a spouse anymore without the patient’s written consent. HIPAA also allows the patient to determine which phone number a health-care provider is allowed to use, and whether they have permission to leave a message about the patient’s medical treatment.

  However, when it comes to research, HIPAA also facilitates researchers having access to data than can be useful in their work, unlimited by privacy concerns. With all the genetic work going on, scientists need huge amounts of such data, but HIPAA also requires researchers to de-identify samples that they work with so that participants’ identities are unknown. Once a biospecimen is de-identified, it is no longer protected by HIPAA. This advances medical science, for sure, but some people may be uncomfortable with the thought that their tissue, or their loved one’s tissue, is floating around out there anonymously.

  But it gets more complicated still, since scientists have proved s
ince the rules were first put in place in the early 1990s that it’s now possible to re-identify tissue with DNA and other tests.

  To my eye, at least, the issues boil down to one thing: informed consent. Many people are happy to participate, just as I was, but they want to know about it, and they want to give permission.

  As of 2016, the Department of Health and Human Services is considering a change to the Common Rule that would require explicit permission from patients for scientists to use leftover tissue from surgeries or biopsies or blood donations. Some researchers worry that this will create a bureaucratic nightmare, while others, like Duke University’s Misha Angrist, think that the days of anonymous tissue samples are long past their expiration date.

  In 2007, Angrist became the fourth participant in the Personal Genome Project at Harvard Medical School, in which volunteer participants agree to have their entire genome sequenced and made public. Founded in 2005 by George Church, a professor of genetics at Harvard Medical School, and still run by him in 2016, the project states as its operating principle that sharing data is “good for science and society.” At the time of its founding, very few sequences had been completed. As of 2015, the project had compiled more than two hundred whole genomes. But sequencing has become much more common now, to the point where you can submit a sample of your dog’s DNA for genotyping for less than one hundred dollars if you want to know what breed Fluffy’s great-great-grandparents were.

  Angrist, who sports a salt-and-pepper close-cropped goatee and thick glasses, is an intriguing hybrid: he has a Ph.D. in genetics from Case Western Reserve University and an M.F.A. in writing and literature from the Bennington Writing Seminars. (Angrist wrote about his experience with the Personal Genome Project in his book Here Is a Human Being: At the Dawn of Personal Genomics.)

  The Harvard Personal Genome Project wasn’t just making genomes available to other researchers; it was also making them available to the public. Participants are specifically not promised confidentiality since “genomic data is as unique as a fingerprint to an individual and can never be fully anonymized.”