MILWAUKEE — In July 2010, Nic Volker, a then-unknown little boy from Monona, Wis., underwent a cord blood transplant, a risky treatment that had its roots in a moment of medical history: one of the first-ever uses of DNA sequencing to diagnose a patient.
Although Nic’s doctors at Children’s Hospital of Wisconsin and the Medical College of Wisconsin could not be certain that the transplant would resolve the 5-year-old’s mysterious gut disease, it would address another extremely rare illness threatening his life, and they hoped the treatment might just take care of both.
The thinking among some was that since the disease did not announce its presence until Nic was 2, it might take two years from the date of the transplant to determine whether the treatment had worked.
Two years later, Nic has yet to experience another one of the painful intestinal holes that characterized his disease. The boy who once could not tolerate real food — it seemed to trigger the intestinal holes — now has a new favorite food, guacamole, or as the 7-year-old calls it, “the green stuff that goes with the chips.”
He plays in a machine-pitch baseball league and wanders the house singing the Zac Brown song “Toes” — Not a worry in the world, a cold beer in my hand. Life is good today, life is good today.
At the same time, the removal of his colon, during some of the worst days of the disease, forces him to use a bag that hangs outside of his stomach to collect bodily waste. He prays that someday he won’t have to, that the surgically created opening in his gut will close and return to normal.
His size, always an issue during his illness, has remained well below that of his classmates. In November, Nic began having seizures, sometimes dozens in a day, resulting in a new diagnosis: seizure disorder.
Nic and his mother, Amylynne, endured long stays at the hospital in Wauwatosa, while his father, Sean, was home in Monona with his three sisters. The long periods of separation have strained relationships.
“I think it’s taken a pretty big toll,” said Marlene Sorenson, the women’s pastor at the former Mad City Church, which the Volkers attended. “Amylynne spent so much of her time with Nic. They’ve got teenage girls, and there were people who stepped up to help with the girls, but Amylynne was the mom and she was out of the picture for so long, and of course it takes a toll.”
Nic’s family has struggled financially, worrying whether they can afford to stay in their house. And the family still receives staggering medical bills — one totaling $111,000, according to Amylynne. Health care reform ended lifetime insurance caps, however, so even though he exhausted his previous $2 million limit, Nic is once again covered by private insurance.
The little boy who could not have real food, who slept with a bag of bagel bites on his hospital pillow, hoping to be able to eat them someday, tells his family he hates the hospital and never wants to go back.
“He’s doing well, but he’s on a journey, and it’s probably a lifelong journey,” Amylynne says.
Nic’s seizure disorder, a relatively rare transplant side effect, was caused by a viral infection he contracted in the first few months after the transplant, said David Margolis, who oversaw the transplant. The infection caused encephalitis, he said.
Margolis shied away from using the word cured, saying he believes the transplant “resolved” Nic’s gut disease and the rare illness the sequencing revealed.
“He’s eating, he’s tolerating food, he’s gaining weight and he’s not in the hospital with infections, so all those things that led Dr. (Alan) Mayer and his team to seek out a diagnosis — all those problems, in my opinion, have been resolved,” Margolis said.
Amylynne is right about Nic’s lifelong journey, though.
Nic has bowel issues related to the loss of his colon, and children who have had such transplants — and the heavy-duty chemotherapy that goes with them — often have hormonal issues and sterility. They are at greater risk for cancer at a later date, Margolis said. Children’s Hospital has a “Next Steps” clinic where transplant survivors and their families can talk with professionals about these issues, he said.
Since Nic’s genes were sequenced, Children’s Hospital has approved more than 20 children for DNA sequencing and completed reports for eight of them, said Regan Veith, program coordinator for the genomics clinic. Veith said that as far as she knows, no other hospital in the country offers sequencing as a comprehensive service including counseling, education and ethics.
“It’s miraculous to see something this big come out of such a little boy,” Veith said. “Two years ago we did this for one kid in an extreme case out of desperation and now we will be able to do this for many more children.”
The National Institutes of Health is also using sequencing to diagnose mysterious cases through its undiagnosed diseases program. And diagnoses based on sequencing results are coming out of Baylor University, the University of Alabama at Birmingham and other institutions, said Eric Green, director of the NIH’s National Human Genome Research Institute.
“Medical geneticists have been seeing these cases for years, but now all of a sudden they have a new tool, and that’s genome sequencing,” Green said. Nic’s case became a “highly illustrative” way to show that sequencing was “no longer hypothetical,” he added.
The promise of the Human Genome Project was that knowing the order of the base chemicals in each person’s DNA would catapult medicine into a new era of much greater understanding of disease and more individualized treatments. Until Nic, however, that promise had not been realized.
Nic’s story rekindled people’s imaginations by showing how the map of someone’s DNA sequence could solve the mystery of an excruciating disease, said Howard Jacob, director of the Medical College of Wisconsin’s Human and Molecular Genetics Center.
“Here’s an example where nobody would debate that Nic would probably be dead by now, and it all came together,” said Jacob, who made the decision in July 2009 to sequence Nic’s genes.
Sequencing is being used in the clinic to provide insight into rare genetic diseases and to inform cancer treatment, but Jacob said he believes that ultimately it will inform medical treatment of all sorts.
“I’d be stunned if it isn’t a common part of medicine in 10 years,” he said.
Freed from the hospital rooms that were home for many months from 2006 to 2010, Nic charges down the halls of Winnequah Summer School, his small hand grabbing a pen from a table, his short, sinewy legs kicking the walls, a coat, a backpack in a cubby.
Hospital life still bleeds into his childhood, in ways both good and bad. When he marches into the room for his “kids in the kitchen” class, the first thing he goes to is the hand soap dispenser, just as every visitor did before entering his hospital room. He loves the school nurse, Kim Koch, who empties the bag where his bodily waste collects.
Nic helps prepare a fruit pizza with cookie dough, strawberries and kiwis. His attention focuses on another ingredient.
“I love frosting,” he says, the proof smeared across one cheek.
His Nike sneakers, so much smaller than those of the other children, are a reminder of how the gut disease knocked him far down the growth charts. He smiles often. He has a good friend, Ben Hutchinson, who is 10 years old and helps guide Nic back when he strays from activities.
On this morning, Nic’s sleeveless T-shirt carries the message: “Smarter than the average kid.” He can surprise you with his wit.
“Who is the average kid?” he asks an adult visitor. “You?”
After the unbridled, almost crazy energy of Nic at school, a calmer moment lingers. All at once, Nic breaks stride, stops running. For some reason known only to him, he settles on the hallway floor sprawled out on his back. Smiling, he spreads his arms and legs as far out as he can.
He looks as if he’s making an angel in the snow.