A Life Everlasting (12 page)

Carolyn then took us through the area where blind people could simulate driving a car, and areas where experiments are conducted to see how eyes behave and what kinds of things they focus on. She showed us a picture on the wall of another doctor, Tatsuo Hirose; she said he has “magic hands” and has restored vision in many babies. He was wearing the classic white lab coat, with wire-rimmed spectacles on his round face and a sweet, kind smile on his lips. I took a photo of his photo.

It seemed like a place where anything can happen, where the smartest people from all over the world meet to solve real problems. It refreshed my spirit to be in this positive place filled with positive people doing positive things.

All too soon the visit was over. Carolyn said she could tell that the doctors were moved by my visit, and we agreed to keep in touch.

As we were leaving, she said, “I will never forget you.”

Back at the convention center, I felt myself floating, watching everything as if from above. My mind was still at Schepens.

I was grateful that my mom had been with me for such a special occasion. Thomas was hers, too, not just mine. And I was glad to have a witness to prove that it wasn't just a dream.

That night, my mom and I talked as we lay in our beds with the lights out.

“I still can't believe I set that up,” I said. “I didn't think they would let me in. And I didn't know much I needed that until it happened. I feel a sense of peace.”

The Hail Mary pass I had thrown into the universe had been caught. I now had a new way to think of my son. He has a job. He has coworkers. He has colleagues. He is a partner in their research, and relevant in this community. They cannot do their job without him.

The next day, my mom bought a toddler-size Harvard T-shirt for Callum that featured the Harvard school motto:
Veritas
.

Truth.

The whole experience at Schepens had been a revelation to me, but apparently I had been something of a revelation to them as well. A few days later, I received an email:

Dear Mrs. Gray,

Thank you for the kind words and the pictures. I'm glad that we could reassure you that your donation did make a difference.

When we get eyes from the Eye Bank, they are provided to us with minimal identifying information as required by law. We are told the age, sex, and cause of death. When we are offered young eyes like your son's, we are pleased because we know that young tissue has much more potential to grow than older tissue. We tend to not dwell on the source of the eyes. Your visit helped to remind me that all the eyes we receive are an incredibly generous gift from someone who loved and cared about the person who provided the eyes. I thank you for reminding me of this.

Sincerely,

Jim Zieske

T
he experience of visiting Schepens had been so powerful that I asked myself,
Can I do this at the other facilities, too?
I wanted to at least try to visit the places that received Thomas's liver and cord blood.

I called Maureen Balderston, a donor-family advocate at WRTC, and told her about my Boston adventure. She sounded a little shocked, maybe even a bit scared. Clearly what I had done wasn't common.

“In fifteen years, I have never heard of anyone doing this,” Maureen said. “Was it a good experience?”

“It was an amazing experience,” I said, “and I want keep going. Can you arrange a meeting for me at Cytonet, the place that received Thomas's liver? I'm going to call the folks at the Duke and see if I can get a tour there, too. Since they're both located in Durham, I could visit them on the same trip.”

“I'll see what I can do,” she said.

In the meantime, I emailed Heidi Cope at Duke to ask if I could bring my family by for a tour.

I wanted Ross and Callum to join me for the road trip to Durham. I wanted Ross to experience the healing that I felt during the visit to Schepens. I knew that as the years went on, the people who were involved in Thomas's donation might no longer work there. And if I wanted to meet the people who were actually involved, the sooner we did it, the better.

“I know what a lab looks like,” Ross said. “It's not going to bring him back.”

“Why not go? We've never been to Durham. It's only a five-hour drive. We can go the night before, stay downtown, and explore the city. Maybe there's a sports thing there.”

This made the difference, since Ross is always up for exploring new places, especially places with sports teams and stadiums he can spot. He's like a bird-watcher, but with stadiums, and the prospect of visiting the home of the Durham Bulls sealed the deal.

We arrived in Durham the evening of Sunday, November 10, 2012. After checking in to the downtown Marriott, we walked through City Center Plaza, home to the imposing bronze Durham Bull statue, then headed to a local microbrewery for dinner. While two-and-a-half-year-old Callum played with a pile of toys, and Ross and I enjoyed an after-dinner beer, I thought,
How did we wind up taking this trip?
We were being pulled in a direction by our son who was no longer with us. Thomas was the reason we were there.

It felt like we were on a mission.

The next morning, we drove to the Snyderman Building at Duke University Medical Center, which housed the Duke anencephaly study. The genetic researchers who were located in the Snyderman Building studied a wide range of conditions but
were united by their efforts to understand the “genetic basis of human disease.” The ten or so faculty members were involved in more than three hundred studies, including the mapping or identification of genes in more than fifty diseases, including Alzheimer's, heart disease, glaucoma, autism, Parkinson's, macular degeneration, muscular dystrophy, and multiple sclerosis.

Though we would be meeting with researchers from the Duke anencephaly study, these researchers were investigating not just anencephaly but cardiovascular disease, liver disease, muscular and neurodegenerative disorders, psychiatric disorders, and even cancer. They believe that their work on multiple conditions makes them better scientists because what they learn from one condition can help them better understand other conditions.

As we approached the Duke University campus, I felt my heart pound. It was like we were visiting Thomas at college. I thought,
This must be what it was like for my parents to visit me years earlier in a strange town that was not their home
. Now Thomas was introducing us to new places, new people, and new ideas.

Once again I imagined a FedEx package, with Thomas's and Callum's blood this time, being delivered to the front desk. I took a picture of Ross outside the building, crouched down next to Callum's stroller.

On our arrival, Heidi Cope, a blond woman with big blue eyes, greeted us. It was Heidi with whom I'd spoken on the phone more than two years earlier. She brought us upstairs to a large, glass-walled conference room, where we were joined by a group of researchers. Heidi's job was to handle enrollment of participants in the study. Allison Ashley-Koch, Ph.D., a genetic epidemiologist, focuses on the genetic, epigenetic (more on this in a minute), and environmental contributions to neural tube defects—and also just happens to be a codirector of the largest
genetic study of anencephaly in the world. Dr. Simon Gregory is the other codirector; he works on genomics and epigenetics, too, and is also the director of the genomic laboratory at the David H. Murdock Research Institute. Dr. Gregory, who had brown hair, wire-frame glasses, and an Australian accent, had previously led the effort to map the mouse genome and to sequence human chromosome 1 for the Human Genome Project. Deidre Krupp, who also attended the meeting, was a graduate student under Dr. Gregory and had worked most closely with the twins' blood.

Dr. Gregory explained that having access to the cord blood of a set of identical twins who were “discordant”—one was healthy and one had the fatal genetic defect—was incredibly valuable. Since identical twins are genetically the same and their in utero environment is the same—same mom, same placenta, same amount of folic acid—Thomas and Callum provided an unusual opportunity to investigate what else might have caused the discrepancy in their development.

As for the anencephaly study that we took part in, the researchers looked specifically at a kind of epigenetics called DNA methylation. Although identical twins have identical genes, their epigenetic process—the process by which genes get turned on and off—can be different. If DNA is the “hardware,” the DNA methylation and the epigenetic changes are the “software.”

These kinds of changes are easily caused by environmental factors and can have a significant impact on the expression of genes. It is known, for instance, that maternal smoking can change the methylation in particular regions of the genome in utero, although that wasn't relevant to Thomas since I didn't smoke. And these changes are also different from cell type to cell type: a change in the blood will be different from changes
in the liver or brain; even within the brain, there are different cell types, so the changes will vary within the brain itself.

Folic acid, like smoking, can also affect epigenetics, which is why, starting in 1991, the Centers for Disease Control and Prevention has recommended that women trying to get pregnant take four hundred micrograms of it every day. A year later, the U.S. Public Health Service recommended that all women of childbearing age take folic acid, since about half of all pregnancies are unplanned, and neural tube defects occur so early in a pregnancy that by the time a woman knows she's pregnant it's too late to begin supplementation. By the mid-1990s, the U.S. government was mandating folic acid fortification in cereal grain products such as bread. As a result, the number of neural tube defects began to drop dramatically.

However, the fact that these defects still occur suggests either that some mothers aren't able to process folic acid, in which case it wouldn't matter how much they took; that some mothers are susceptible to too much folic acid; or that there was something else in the environment causing the defect.

Deidre Krupp, the graduate student, told us that she had presented a poster based on some discoveries from a small sample, including what might be the twins' blood samples, at a conference. Professionals who discover something interesting or want to present their findings to their professional peers create a poster to display at a conference, like a science-fair project for grown-ups.

“You made a poster? Do you still have it? Can I see it?” I was astounded and excited.

Deidre went to fetch the poster. It was an aqua-green poster with the title “Genetic and Epigenetic Variances in Twins Discordant for Anencephaly.” The eight authors (Deidre Krupp, Christina A. Markunas, Karen Soldano, Kaia S. Quinn, Heidi
Cope, Melanie E. Garrett, Allison E.Ashley-Koch, and Simon G. Gregory) laid out in two columns their research into “a monozygotic twin pair discordant for anencephaly.”The whole thing was dense with scientific jargon, so I went straight to the conclusion: “findings support potential causative role for altered methylation in NTD (neural tube defects) etiology, particularly in concert with predisposing genetic variation.”

“What does this mean?”

“There are epigenetic differences between the twins, and they seem to be random,” Deidre said.

“Do you think this was caused by me using a sauna or being hot?”

“I could never rule that out, but no—based on what we saw, I don't think so.”

“Were you surprised by this?”

Deidre laughed, then paused before saying, “No. Because for me to be surprised, that implies that I knew what to expect. We are only in the beginning stage of trying to understand what causes anencephaly.”

Until that moment, I had often wondered what I might have done to cause Thomas's anencephaly. Now I was being told that the answers were not clear at all, which was somewhat comforting: there was a distinct possibility I had not done anything wrong.

Deidre and Dr. Gregory explained that the anencephaly was likely caused by epigenetic markers. Sometimes epigenetic markers are caused by environmental factors in our lives, and sometimes they are passed down from our ancestors. As just one example, the effects of your grandfather's polluted work environment, or poor nutrition, may be passed down to you. This was an incredible thing to learn, and meant that the true causes of Thomas's condition might never be known.

In the acknowledgments sections of the poster the researchers had written:

The authors wish to thank the patients and family members for their participation in and contribution to this NTD study.

This was very poignant for me. We would never have known of the study or this acknowledgment if we hadn't decided to follow the trail of Thomas's donation. These twenty words were a thank-you letter that was never mailed—in fact, I wondered if the researchers were even
allowed
to contact us. In my dream world, we would have been emailed this study when it first came out.

Whatever the truth of the complicated nature of the relationship between research participants and scientists, something more important was true: there it was, proof of Thomas's contribution to science. Now I could finally celebrate the work I had done to provide decent blood samples. Just as the folks at the study were grateful for our donation, so I was grateful to Deidre and the team for taking the time to explain this important study to us.

This was part of Thomas's legacy, more work to which he had contributed. Maybe, thanks at least in part to him, babies of the future wouldn't suffer from the awful affliction that took his life. I was so proud of my son.

After we met the researchers, Karen Soldano, a lab research analyst, gave us a tour of the facility and showed us where the FedEx package of test tubes would have arrived, and where the blood was currently being stored (along with thousands of other samples). We saw rows of microscopes and equipment I had seen only on forensic science shows.

We were asked not to lean on the $150,000 DNA coding machine.

At the conclusion of the tour, we said our good-byes and hugged the researchers. Dr. Gregory thanked us for visiting, and told us that meeting us had reminded him of the personal investment in every blood sample they get.

We left with a new perspective on the complicated biological processes that result in human beings being born healthy—or not. Dr. Gregory had explained that they still couldn't tell us exactly what caused a defect or how to cure or prevent it—but it gave me great hope to know that the work they were doing could lead to clinically actionable information down the road. Maybe not for me, but for other people in the world who might one day be in my shoes.

This visit gave me a better appreciation for what researchers do, too. They face years of trial and error before they can ever point to a success. Dr. Gregory put it like this: “You have to be something of a masochist to be a scientist, because not every experiment works. It's 95 percent disappointment. We live for the 5 percent, when we are able to identify something no one has ever seen before.” It occurred to me that scientists have something in common with organ, eye, and tissue donor families: we all do something to help people we may never meet.

We stopped off at the Duke University gift shop and got Callum another T-shirt.