by Geeta Anand
“If I had the resources, I could scale up production and treat patients,” Martiniuk said.
“Would you be able to treat Megan and Patrick?” John asked.
“I don’t see why not,” Martiniuk said. “They’re patients with the disease. They live close by. It wouldn’t be favoritism or anything. It would make sense to put them in my clinical trial.”
Barbara grew tearful and turned to Martiniuk, hugging him and saying, “You’re the one who will save these babies.”
Hope lifted John’s spirits above the smell and chaos. “I’d like to be the fellow who helps kick-start your trial,” he said, breathless. Here was the chance he’d been looking for to get personally involved in advancing research. “If we funded you, how much money would you need?” He stared at the cage with the strong brown mouse, picturing Megan and Patrick as toddlers running up and down the steps in their house. He felt the same excitement he had in the Netherlands looking at the slides in Moolhuizen’s office of tissue from mice treated with enzyme, and again at Randall’s meeting, watching Dr. Chen’s video of the diseased quails flying.
“John, I would need, you know, a minimum of at least $180,000 for one year to hire an assistant and to buy the mice and materials,” Martiniuk replied.
“What could you do in one year?” John asked.
“If all goes well, I could be ready to file an application with the FDA to treat a few patients.”
“Do you really believe you could get it done?”
“We could work with a doctor at the NYU School of Medicine to treat a few patients under what is known as a physician’s investigational new drug application,” Martiniuk said. “It would be a very small clinical trial, a way to get some patients treated very quickly. So, yes, I believe we can get it done.”
John, Aileen, and Barbara talked nonstop on the drive back home. Aileen and her mother-in-law had very different opinions on the researcher, as they did on most subjects.
“He’s brilliant, absolutely brilliant,” Barbara said effusively from the backseat.
“His lab didn’t seem very professional,” Aileen replied, frowning, from the front passenger seat. “It was so dirty. Do you think he can really make a drug for Megan and Patrick?”
“You can’t really call it a lab—it’s more like a garage,” John laughed. “Doesn’t he remind you guys of Doc Brown from Back to the Future? He has the same flowing wavy white hair and wild eyes and eccentric personality. He’s so crazy he has to be brilliant.”
“If we wanted to go back in time in a Delorean, that’s one thing, but we’re looking for a guy who can make something to save our kids,” Aileen said. “I don’t know about this guy.”
“Aileen, I don’t know whether he can do what he says he can,” John said. “But he’s the only guy who’s willing to commit himself immediately to make an enzyme to treat Megan and Patrick. Who knows when Chen and Pharming will get going with their trials? We need a backup.”
Aileen didn’t reply immediately, looking out the window as they pulled onto the New Jersey Turnpike, still uncertain. In the world of science and medicine, she knew they were completely out of their league. There was no way of knowing if Martiniuk or any of these scientists were for real. “You know, you’re right,” she said at last. “We really don’t have many other options.”
“John, you give him the money as soon as you can and get him going on this,” Barbara added quickly. “I just know he’s our man.”
John called Martiniuk the next morning and told him the foundation would award him the first research grant. Martiniuk didn’t offer John any assurances, and John didn’t ask for any. That very day, he wrote the largest check of his life—$60,000—counting the zeros twice to make sure he had gotten it right. He put it in the mail immediately, not wanting to waste one single day in the race to save his children’s lives.
Barely a month later, in May, Dr. Chen called to tell John he had permission for the first time from the FDA to test his drug in three infants, and that he finally had enough of it to begin his clinical trial.4
John wasn’t expecting that call. More than a year had passed since Megan was diagnosed, and Chen had been delayed so many times John had almost given up on him. John was thrilled to hear a trial was finally getting started, even though it would only include babies younger than a year old, which Chen, like the researchers at Pharming, believed was the fastest route to getting FDA approval. It was a practical approach as well. Babies also needed less of the enzyme therapy, which was extremely difficult to make and in short supply.
“If this test goes well, by the end of the year I hope to be able to treat children as old as yours,” Chen said.
“Just tell me how I can help, Doctor,” John told him.
“Maybe your foundation can help pay for computers and staff to manage the trial,” Chen suggested.
The next week, John and his father-in-law Marty flew to North Carolina to see firsthand what was going on with the trial. A smiling Chen greeted them in the waiting room of the low-slung brick Lenox Baker Children’s Hospital. He told them he would take them to see the first patient in the trial, a four-month-old-baby who had received his first infusion a few days earlier. His name was John Koncel.
John did a double-take. “I talked to the parents, Deb and Barry, a few weeks ago on the phone. They’re from Chicago, right?”
“Yes, that’s right. They came to see me just two weeks ago,” Chen said.
“They hadn’t seen you yet when they called me,” John said, sounding embarrassed. “They wanted advice and I told them, ‘I’ve been doing this for over a year and the enzyme has been a month away the whole time.’ I told them their baby might have a very short life, and they might end up doing more harm than good by dragging him all around the world in search of a treatment. I can’t believe how wrong I was, Doctor. If they’d listened to me, their baby wouldn’t be here today in the trial.”5
“John, it’s okay. Believe me, I second-guess myself and my advice all the time,” Chen said.
“C’mon, John,” Marty said, patting him on the back.
“I’m never going to discourage anyone from doing everything he can to save his child, no matter how futile it seems,” John said fiercely. “I remember Randall telling me something similar when we met a year ago in the hotel conference room where Dr. Slonim had examined Megan. I didn’t take his advice then, and luckily the Koncels didn’t take mine.”
Chen led John and Marty outside to an old hospital building, up an elevator, through a set of double doors and into the second patient room on the left. The baby lay in his mother Deb’s arms wearing a white one-piece. He was so thin that they could see the palpitations of his swollen heart, as it seemed to pound out of his chest. His eyes were alert, staring up at the visitors, but he didn’t lift his head or turn it in their direction; his legs were motionless, his arms hung limply by his side.6
John and Marty stayed for only a minute before the doctor beckoned and led them back down a corridor to his office. They were silent on the walk back, struck by how weak baby John looked. Megan and Patrick, who had a less severe form of the disease, looked like prizefighters compared to this baby. John had heard and read descriptions of the “floppy” babies with the classical form of the disease, but seeing a patient was a whole different experience.
“The enzyme has not yet taken effect on baby John,” Chen said. “We gave him the enzyme a few days ago. We will know in a few more weeks if it is working.”
* * *
One month later, Chen called, uncharacteristically ebullient. The doctor was normally so circumspect that John had to rely on his training as a trial lawyer to pry any information out of him. Today, he overflowed. “Baby John is much stronger,” he said. “The treatment is working. Do you want to come see?”
John flew down again, this time accompanied by Aileen and Dr. Slonim. Taking Aileen was part of his effort to pull her into his orbit of hope; he asked Slonim along, thinking this would give him t
he chance to talk with Chen and perhaps the two doctors could collaborate in the future.
Chen, beaming, led the entourage to the same room in the old hospital building. As they walked down the corridor, Chen said he had just gotten the results of the baby’s echocardiogram, showing that his heart had reduced in size and had grown stronger. “Most Pompe babies die of heart failure, so a stronger heart is the most important,” Chen said.
This time, baby John’s room was packed. His aunt and uncle were there, talking excitedly about their plans to take him out for the day. The baby’s mother sat in the same chair with baby John in her lap.7
Was it the same baby? He was almost unrecognizable. He was sitting up, with just a little head support from his mom. He had been so weak before that John hadn’t noticed how cute he was, with his full head of blond hair and enormous blue eyes. Alert and curious, he reached his arms up to the visitors and smiled. Then, following his mother’s lead, this baby who had struggled to bat a mobile before his treatment began to patty-cake.
“This is the answer,” John said, tears in his eyes. Chen introduced the Koncels to the Crowleys and Slonim. John hugged Deb, the baby’s mother; Barry, his father; and then the aunt and uncle, sharing in their joy. This baby’s transformation meant hope for Megan and Patrick and all others with Pompe disease. There was no doubt in John’s mind that Chen had in hand the miracle drug that would save his children.
Slonim crouched beside the baby, his big nose reddening like he was going to cry. He had been caring for patients for two decades with little real hope to offer. “Trust me, this is amazing,” he kept saying.
Once John had finished hugging everyone, he looked for Aileen and found her standing in the doorway, a glazed look on her face. As their eyes met, he saw she was struggling with jealousy, and he recognized it as the same sentiment he had been repressing as he tried to share in the Koncels’ joy. The Koncels had found in a few weeks the healing drug for their baby that John and Aileen had been seeking for more than a year.
Luck and timing had been on this family’s side. Barry Koncel, an architect, and Deb, an office manager for the American Medical Association, had been referred to Chen by their baby’s doctor. They had rushed baby John to Duke to be examined, and were told the same thing—that Chen was hoping to start a clinical trial soon. But where the call had not yet come for John and Aileen, the Koncels had barely returned home a week when the phone rang. It was the genetics counselor for Chen’s office on the other end, saying the FDA had approved his trial. “How quickly can you come back here?” she wanted to know.
Today, as Chen led the group from the room, he told them that the hardest part for him was picking the patients to participate in his trial and be given a chance at life over others. He had one severe restriction—the company manufacturing the enzyme had produced enough so far to treat only three babies. Chen knew of four babies who were less than a year old and could still breathe on their own, two criteria for qualifying for the trial that aimed to prove the enzyme treatment could not only keep babies alive but also breathing independently. The only fair way to play God was to enroll patients on a first-come first-serve basis, Chen said. The second baby to qualify had just started treatment. Of the two remaining babies, the final spot would be given to the one whose confirmatory Pompe test result and other paperwork arrived first.
“Dr. Chen, tell me what I can do to help you,” John said, eyes wide with excitement.
“Come with me,” Chen said.
Aileen and Slonim went to lunch, and John followed Chen up a creaky elevator and down a long whitewashed cinder-block corridor to his small conference room. They settled into two of the six chairs around the table. “What I need most is resources to support the trial,” he said. “We need to hire a nurse and a dietitian. I’d like to turn one of our labs into an office for a support team to work. We need computers. These are all things your foundation could buy for us,” he said.8
“How much do you need?” John asked.
Chen stood up and wrote out line item by line item on the whiteboard. The total: $500,000.
“We can call our new center the ‘Megan and Patrick Crowley Center for Pompe Disease,’” Chen said.
“I’ll raise the money,” John said with no hesitation.
Walking out, he knew it was time to put his fund-raising savvy on the line. He could be remarkably persuasive when he had to be.
Over the next eight months, John and Aileen raised $750,000 through three fund-raising events and an unexpected donation from the neighbor of an old high school friend, Tom Westdyk.
The first fund-raiser was not their idea. Aileen’s mother’s golfing friends—Mary Stuart, Kathy Scudieri, and Kathy Rosato—offered to plan and host a garden party at their country club. John dismissed the idea at first and then said, “Oh well, whatever little bit comes in will help.”
To everyone’s surprise—and none greater than John’s—the event yielded $80,000. About a hundred relatives and close friends gathered on the second floor of the Beacon Hill Country Club for what was billed a “garden party.” The guests were plied with drinks and hors d’oeuvres before sitting down to dinner and an inspiring speech from John.
“When Megan and Patrick were diagnosed with Pompe last year, we made a promise to them, and to ourselves, that we would do everything in our power to change the course of this disease,” John said. “The money that we will raise today is one great step forward to helping us deliver on that promise to beat nature, now we just have to beat time. As you’ll see, we are blessed to have Megan and Patrick.” He introduced the little girl, gorgeous in a red dress with a matching red bow. “Say hello to everyone, Megan,” he prompted. She waved from her perch in her new red wheelchair, with her name embroidered in black on the back. Her eyes shone and her face was flushed; she loved the attention. Patrick, who hated the limelight, had stayed home with Sharon.
For the next fifteen minutes, John talked about the children’s diagnoses, his discovery of the experimental treatments being tested, and the fact that no trials were being conducted in his children’s age group.
“There’s no doubt in my mind that, with your donations, we can fund a clinical trial to save Megan and Patrick,” John finished, voice quivering. Aileen’s brother Marty, who cohosted the live auction that followed, prodded the tearful guests to bid thousands of dollars for things they didn’t need, from fountains to goldfish ponds and weekend stays at one another’s country homes. The goldfish pond went for a stunning $8,000.
Perhaps more valuable than the actual money raised was the transfer of knowledge. John and Aileen immediately recognized a proven formula for successful fund-raising. That summer, John convinced the Muscular Dystrophy Association (MDA), one of the best-known patient advocacy groups in neuromuscular diseases, to host a fund-raiser in Boston and donate the money to Pompe researchers. Leveraging every connection he had, John got Textron Inc. to donate $10,000 to help underwrite the dinner at a restaurant near Faneuil Hall called The Rack. (It got its name from its upscale pool hall—and, unbeknownst to John until the night of the fund-raiser, because of the buxom, scantily clad cocktail waitresses.) John was good friends with Bradley, the son of Textron’s CEO, Lewis Campbell. Bradley had followed John from Marakon Associates to Bristol-Myers.
Aileen, now a believer, made gift baskets for the Boston fund-raiser—one with pastas and sauces, another with chocolates and champagne. So great was her enthusiasm that she bid on the baskets herself during the silent auction, trying to drive up the prices. John warned her in a loud whisper that time was running out, but, a glass of wine in hand, she batted him away, saying, “You and your Harvard Business School logic—can’t you see I’m trying to drive up the price.” The next day, grim-faced and hungover, she and John loaded the baskets back into their car, Aileen still refusing to acknowledge that her bidding tactic had cost the family $1,000. They had bought back the very baskets she had so painstakingly made and driven up to Boston the day before.
/> The event netted about $50,000, and an Aileen story that John would regale friends with for years. The MDA had agreed to earmark the money for two researchers chosen by John—and he decided right off to divide it between Drs. Chen and Slonim. Intent on covering all the bases, John had pledged $500,000 to Slonim so he could also hire a dietitian and a nurse to support a clinic focused on treating Pompe and related diseases. The money was also to be used to hire an assistant to help Slonim publish an academic paper describing the nonclassical infantile form of Pompe disease—the kind that usually struck older babies and toddlers, like Megan and Patrick. John knew that if Pharming ever began a clinical trial in the United States, Slonim would be the principal investigator.
The final event that fall was one that John and Aileen organized, assisted by a battalion of relatives and friends and the event-planning team at Bristol-Myers. It was held on a high floor of the Millennium Hotel in New York, overlooking Broadway. Aileen, after hours of training in spreadsheets from her Uncle Jim, handled the accounting. Ed Devinney, John’s buddy from the Naval Academy, showed up to help him unload a pickup full of donations for the silent auction and carry them through the hotel lobby, up in the elevator to the party room. John’s mother designed the invitations and persuaded her hairdresser to get his good friend Ben Vereen, the Broadway musical star, to show up and sing “Impossible Dream.”
But nobody could match Bristol-Myers in the sheer breadth of assistance. John had been promoted and reported directly to the chief of the U.S. pharmaceutical business, who put the full weight of the company behind the fund-raiser. Not only did Bristol-Myers pay $50,000 to underwrite the event, but most of the senior executives sent out personal invitations to Bristol-Myers’s top vendors, who bought tables for $10,000 apiece. Many of these executives, accompanied by their spouses, also attended the event.9
The company’s event planners donated their time and produced a video for the evening featuring John, Aileen, Martiniuk, and Slonim talking about the promise of a treatment in the near future. Greg Assink, whom John had recruited to join his foundation months earlier, flew from Hudsonville, Michigan, for the event, carrying a picture of Kelsey, his daughter with Pompe, who was now six years old.