Home > News > Media Coverage

Media Coverage

The Made-to-Order Savior, cont.

By LISA BELKIN
Published: July 1, 2001

As baby Jack was being born, Lisa Nash was undergoing the shots and monitoring that are part of in-vitro fertilization. Theirs would be a very difficult case, Hughes had told them. Of the cluster of genes that together determine H.L.A. type, science, at the time, could look at only three. As it happened, Lisa and Jack's patterns were almost identical on those three genes, making it nearly impossible to sort hers from his. That genetic quirk, he warned, could lead to the wrong results. The science to fix this didn't exist yet, he said, and he was figuring it all out as they spoke.

Hughes was also struggling with other problems, ones that had nothing to do with the Nashes' DNA. On the day that Lisa's eggs were retrieved by laparoscopy and fertilized in a dish, the headline in The Washington Post read: "N.I.H. Severs Ties With Researcher Who Experimented on Embryos." Hughes had been accused of using federal funds for embryo research, in violation of the Congressional ban. Hughes denied that government money was used for that portion of his work and argued that in any case his research was not even on embryos since all that ever arrived in his lab was DNA extracted from a biopsied cell.

Lisa Nash did not become pregnant.

Mark Hughes resigned from his positions with N.I.H. and Georgetown University rather than agree to stop his research.
The turn of events was devastating for Hughes. He was out of a job and forced to uproot his two young sons and his wife, who was fighting a battle of her own, against breast cancer. Those close to him say he talked of quitting medicine entirely, so frustrated and angry was he that the rug had been pulled out from under him.

The turn of events was also devastating for the Nashes. "We called him two, three times a week," Jack Nash remembers, and as he speaks a frantic note creeps into his voice. "But he wouldn't return our calls. Months went by, then a year." Over those months they learned that Hughes was moving halfway across the country to a new, privately financed lab where he could continue his work. Then they learned that Hughes's wife was critically ill, that her cancer had spread, that the prognosis was grim. The one thing they did not learn was when and if their quest to save Molly might begin again.

They now understand that science solves the simplest equation first, then moves on to the more difficult ones; their complicated genetic makeup meant their case had to wait. Added to that was the fact that the initial decoding of their DNA had been done at Hughes's former lab in Washington, and he no longer had access to the data. They now also understand that Hughes was in this to save lives, and that having to come to the phone and say that he couldn't, that he didn't know how to match an H.L.A. type for Molly, was more than he could bear. But at the time they didn't understand. At the time they were angry.

"When we manage to speak to him he says we have to give him a few more months to get the lab set up," Jack says. "Meanwhile Molly's counts are dropping and he's the only one who can do this, and he won't help."

Life for a chronically ill child is a jumble of numbers. The average platelet count in a healthy child: 150,000 to 450,000. The lowest that platelets are allowed to drop before Dr. Wagner urges a transplant: 40,000. Where Henry's platelets hovered when Jack was born: 100,000. The cost of each in-vitro cycle: $11,000. The amount paid by insurance: officially, $0, because the in-vitro fertilization was not being done to treat infertility, nor was it being done to directly treat Henry. The amount the Strongin-Goldbergs raised for Fanconi anemia research at the fund-raiser they held on Henry's first birthday: $67,500. The odds of a blastocyst being healthy: 3 in 4. The odds of a blastocyst being a match: 1 in 4. The odds of a blastocyst being a match and also being healthy, and of Laurie becoming pregnant and delivering before Henry had to have a transplant: God only knows.

Since the day Henry's F.A. was diagnosed, life for Laurie and Allen was filtered through these numbers, through the lens of Fanconi anemia. "Every ensuing pregnancy," she wrote in her journal after baby Jack was born, "will be marred by the fact that the little baby in my belly could have a fatal disease. Every job that Allen and I consider has to offer medical insurance without excluding pre-existing conditions and with compassion and flexibility. Every relationship has to offer quiet understanding of our travails accompanied by the capacity to give without expecting too much in return."

While Mark Hughes worked to set up his new lab at Wayne State University School of Medicine, near Detroit, the Nashes and the Strongin-Goldbergs were at home, waiting in two very different ways. A crisis can strip a family down to its skeleton of strengths and faults, peeling the niceties away and revealing the bare core of who they are. Henry's parents, for instance, effervescent, embracing and fiercely optimistic from the start, became more so as the clock ran out. They took on Hughes's problems as their own, bonding with him deeply, knowing that they needed him to bond back if they were to save Henry. Molly's parents, in turn, are determined and intense, and they did not waste emotional energy that might be spent protecting their daughter. They were demanding of Hughes, but no more demanding than they were of themselves or of anyone else who could help Molly.

Until the spring of 1997, the two families had still not met. In May of that year, when Hughes was promising both of them that he would be able to resume work soon, a retreat for Fanconi families was held near Portland, Me. The Strongin-Goldbergs went there determined to meet the anonymous couple Arleen Auerbach had mentioned -- the couple who had already tried H.L.A. screening with Hughes. Armed with two facts -- that the couple had a daughter, and that they lived in Colorado -- the Strongin-Goldbergs skimmed the directory and found a family who fit that description.

When Laurie Strongin shook Lisa Nash's hand for the first time she felt an instant bond with the only other mother in the world whose life paralleled her own. Lisa was more reserved. Up to that moment she hadn't realized that the elusive Hughes was working with a second family. Six months later, however, by the time of Laurie's initial in-vitro attempt, the women had paddled past their opening awkwardness and were close telephone friends. When Henry, now 2, talked about his future, he spoke in gradations: first he would be "better," then "super better," then "super-duper better." When all this was over, Lisa and Laurie promised each other, when their children were both "super-duper better," the two families would travel to Disneyworld to celebrate.

In January 1998, when Hughes was finally ready for them, Laurie took the train up to New York City for her appointment with Dr. Zev Rosenwaks, the baby-making guru at the in-vitro fertilization clinic at New York Weill Cornell Medical Center. Henry's platelet count was 71,000 that morning. Eighteen days later, after 18 shots of Lupron, a brutal migraine, hot sweats and cold chills, Laurie's body refused to cooperate, and the in-vitro fertilization process for that cycle had to be abandoned. That week Henry's platelet count dropped to 31,000, its lowest level up to that point.

Doctors often suggest that in-vitro fertilization patients wait a month or more between attempts, but Laurie didn't have a month, and in early February she was in New York again. This time the numbers were on her side. She produced 24 eggs, and 21 of them were mature enough to be fertilized. Statistically that meant six should be perfect matches for Henry, and three or four of those six should also be disease free.

Sixteen blastocysts survived the biopsy. Allen refused to entrust the cells to anyone, so he flew them to Detroit himself. At the airport he handed his Styrofoam hope chest to a waiting Mark Hughes, then got on the next plane back to New York. The following evening, Laurie was at the Rosenwaks clinic ready for the re-implantation when word came from Hughes. Of the 16 blastocysts tested, 2 were absolutely perfect matches to Henry. Both those matches had Fanconi anemia.

"I'm struggling to come to terms with how much pain I can withstand," Laurie wrote in her journal. She and Allen shared that pain long-distance with the Nashes, who still had not heard when and if Hughes would begin to work with them again. Jack and Lisa were supportive, but also envious and confused. "Were they the family of choice because he liked them better?" Jack remembers wondering. "Is this personal? Does he have something against us, and he's taking that out on Molly? Things like that definitely go through your mind."

The Nashes sent frantic e-mail messages to Hughes, telling him what he already knew -- that Molly's counts were dropping and that they were running out of time. In August 1998, when Molly's platelet count had fallen to 30,000, they received his answer. He couldn't help them, he wrote in an e-mail message. Their case was too complicated, both genetically and politically. The genetic analysis he'd so painstakingly done on them belonged to the N.I.H. "We tried to get the lab at Georgetown to help us, since they were key in our being able to do this for you the first time around," Hughes wrote. The lab has been ordered by the "Catholic administration" of the university "not to get involved 'in any way."'

Hughes continued: "Go ahead without us. You are anxious, and we understand that very well. But I cannot make this work today and I don't know when I will be able to do so. I am sorry. Science sucks sometimes."

Reeling, Lisa and Jack called Laurie and Allen, who were about to begin their third in-vitro cycle -- one that would produce 26 eggs, 24 of which were mature and 21 of which would fertilize. Of those, three would be perfect, healthy matches for Henry. The Strongin-Goldbergs would not share these details with the Nashes because they had come to understand that other people's good news is sometimes too difficult to hear.

Taking Mark Hughes's advice, the Nashes did go on without him. They'd decided to jump into a cross-your-fingers pregnancy when they learned, almost by accident, of a private clinic in Chicago that had been quietly doing P.G.D. for nearly 10 years, though never for Fanconi anemia. This news was "like opening a door," say the Nashes, who had not realized that other labs in the country besides Hughes's were providing P.G.D. If this Chicago lab could test for cystic fibrosis and Tay-Sachs, they wondered, why not Fanconi? And if it had the equipment to screen DNA for disease, why not also screen for H.L.A.?

Lisa and Jack brought Molly along on their trip to the Reproductive Genetics Institute, on the theory that doctors couldn't say no with their adorable but ashen-cheeked child in the room. Her platelets were half what they had been a month earlier. She was weak and tired. They could not have walked into a more receptive office. A year earlier, Charles Strom, then the head of the institute's genetics lab, had heard Mark Hughes speak at a genetics meeting about his attempts to screen DNA for an anonymous couple who were trying to have a child who would be a cord-blood match. "It was like a revelation to me," says Strom, a broad, genial bear of a man now at Quest Diagnostics in California, who could, at that time, perform P.G.D. for 35 diseases but had never thought of H.L.A. screening. "This is what pre-implantation genetics should be about."

A few in the audience expressed their disapproval, he remembers, fearing that this was a step on the road to eugenics. Strom, on the other hand, was enthusiastic. "I stood up and said I thought this was great," he says. "I'm trained not just as a geneticist, but as a pediatrician, and I was tired of watching kids die. I thought this would be the future, and from then on, I was basically waiting for someone to ask me to do it." So when the very same "anonymous" couple arrived and asked, Strom said yes.

He immediately discovered what Hughes had struggled with for years -- the "nightmare" caused by the near-identical patterns in the H.L.A. portion of Jack and Lisa's DNA. But he and his team tried something new -- they looked farther down the strand, beyond the three known genes, to a spot where it was easier to differentiate one parent from the other. This increased the risk of being wrong, but Molly's blood counts were dropping, and they did not have time to waste. "This isn't what we want to do, but it will probably work," Strom told the Nashes two months after they first met.

It is one thing to screen embryos; it is another to become pregnant, and adding H.L.A. screening to Fanconi anemia screening lowers the odds even more. Only 1 in 6 blastocysts is likely to be both healthy and a matched donor, and that one might not be the quality that the reproductive endocrinologist would have chosen under ideal circumstances. Lisa spent all of 1999 trying to defy those odds. In January she produced 12 eggs, 2 of which were healthy matches; she became pregnant, then miscarried. In June she produced only four eggs, one of which was a match but did not result in a pregnancy. In September she produced eight eggs, six of which had Fanconi anemia; the single healthy match was implanted, but again, her pregnancy test was negative.

In October the Nash family traveled to Minneapolis for Molly's twice-yearly checkup with Dr. Wagner. Her platelets were down to 10,000. In every measurable way she was failing, and she needed a bone-marrow transplant. "You have to stop," Wagner told her parents. It was time to proceed with a transplant from a nonrelated donor. "There comes a point where I have to say: 'It's over. You've done it. You've done the best you could."'

He began to search for a donor. Lisa and Jack went ahead with the in vitro that had been scheduled for December. "I couldn't hear the word no," Lisa says. "No' meant Molly could die."

Because they knew it was the last try, and because they needed to feel certain that they had done the best they could, the Nashes insisted on one change of procedure for this final try. It troubled them that Lisa was producing so few eggs per cycle, and they wondered if a different in-vitro fertilization clinic might do better. They approached Dr. William Schoolcraft, an infertility doctor in Colorado known for pushing the envelope. He changed Lisa's hormone regimen and in December 1999 retrieved 24 eggs from her ovaries.

For two days the Nashes fantasized about twins and even triplets. Then Strom called to say that there was only one match.
It all came down to one embryo that, statistically, had less than a 30 percent chance of taking hold and staying put. "All it takes is one, all it takes is one," Lisa reminded herself as she drove to Dr. Schoolcraft's office nine days later for a pregnancy test. Minutes after she left, her cell phone rang.

"You're pregnant," said the nurse on the other end.

It was too soon, however, for a happy ending. And indeed, seven weeks into the pregnancy Lisa had just gotten out of the shower when deep red blood began flowing down her legs. The drive to Schoolcraft's office was a blur, but the memory of the picture on the ultrasound screen is vividly clear: a large gap where the placenta had separated from the uterine wall, and the flub-dub pulses of a tiny, living, beating heart.

Lisa went home and went to bed. She was permitted to get up three or four times a day to use the bathroom and once a week for an appointment with Schoolcraft, nothing more. Every time she stood up she began to bleed. Molly, too weak to really play, was on her own manner of bed rest, and mother and daughter spent entire days lying upstairs together.

In March, Molly's blood tests showed signs of pre-leukemia. Wagner sent more data to the national bone-marrow bank, escalating his search for an unrelated donor. In April, Molly's platelets fell to 3,000. She began to need blood transfusions but fought whoever tried to insert the needle; one particularly rocky weekend Strom flew to Denver from a business meeting in Los Angeles, because he was the only one Molly would permit to start the IV. April became May; May turned to June. Along the way, Lisa asked her doctors what could be done should she spontaneously lose the baby. They began to discuss whether stem cells could be harvested from a fetal liver. And all the while, Lisa was still bleeding -- clawing her way through the pregnancy, trying to hold onto her baby while holding off her daughter's transplant.

Back when the Nashes were deciding whether to go ahead with Molly's transplant or try somehow to wait until summer, the Strongin-Goldbergs were making their own impossible choice: whether or not to give up. Their optimism back in August 1998, when they had three healthy embryos, had long since faded. That in-vitro attempt did not result in a pregnancy. Neither did attempt No.4, in November, when 30 eggs failed to provide a single healthy match.

Attempt No.5, in February 1999, was almost more than they could bear. Laurie produced 17 eggs and was waiting to be summoned to the clinic when she received another call instead. Allen had taken to scanning the Detroit newspapers online, knowing that Mark Hughes's wife was dying, but not wanting to pester his friend. The morning of Laurie's retrieval, Allen found the news he'd been dreading in the obituary section. Laurie's ovaries were past the point of no return, so Rosenwaks went ahead with the retrieval and fertilization without any idea who would screen the blastocysts. "I couldn't imagine doing this without our friend on the other end and didn't even know if it was possible," Laurie wrote.

But saving Henry had come to mean as much to Hughes as to Laurie and Allen. The researcher had watched his own life nearly destroyed in defense of this work, and he promised he would be there. Fourteen blastocysts survived the biopsy, and on the morning of Feb. 11, 1999, just a few days after Hughes's wife's death, Allen loaded his Styrofoam box with vials and dry ice and boarded the 11:10 a.m. flight to Detroit. He took the container to the lab, where he was moved to tears to find a large picture of his own son hanging on the wall.

< Page 1 | Page 3 >