Mom of first person saved by DNA sequencing fighting to increase access

When Nic Volker was 2, his mother discovered an abscess on his rectum, and soon after, whenever he’d eat, his body would punish him by forming holes in his intestine. The once-healthy little boy’s condition led to a colectomy and mystified scientists for years until 2009, when he underwent DNA sequencing, which was then an emerging technology. Although the feat was a triumph for medicine, the trials that preceded the test— more than 800 days in the hospital, 172 surgeries, over 10 bouts of sepsis, countless medications and meetings with dozens of specialists— took a toll on Nic, who has recovered, but copes with seizures, developmental delays, anxiety and trauma.

Due to DNA sequencing’s still-high price tag and its relative novelty, many families in the United States are continuing to suffer a similar fate but may not be as lucky as Nic was to survive.

“It’s a success story with sequencing, but what about if other kids in other families could get this done sooner? Then, you wouldn’t have to go through what Nic had to go through or what our family had to go through,” Amylynne Santiago Volker, Nic’s mother, told

As scientists continue to study the genome and strive to improve sequencing, Amylynne is fighting to expand access to the technology and potentially help the estimated 10 percent of Americans who suffer from a rare disease for which there is no diagnosis. She’s met with legislators, including Speaker of the House Paul Ryan twice, to propel the bill, the 21st Century Cures Act, which would offer funding for various health initiatives, rare diseases among them. She’s part of a group called Cures Coalition that’s lobbying Congress to pass the bill. As is, the legislation does not propose a specific amount of funding for DNA sequencing.

Already, thanks to more scientists using DNA sequencing, its cost has fallen from the $100,000 the Volkers paid to sequence only part of Nic’s genome to $6,500 to sequence an individual’s entire genome. Today, not every child who needs access to the technology has it, but some insurance policies in some states cover the technology, said Howard Jacob, the scientist who led Nic’s DNA sequencing.

A new book titled “One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine” traces the Volkers’ story and Jacob’s quest to sequence Nic’s DNA.

Fighting for Nic’s life

After Amylynne discovered the abscess on Nic’s rectum, doctors brushed it off as an innocuous wound. But when the abscess eventually burst after antibiotic treatment, the wound refused to heal and Nic began losing weight rapidly, at one point dipping to nearly 17 pounds. Doctors diagnosed him with failure to thrive, and he was worked up for Crohn’s disease, a condition usually more common in teenagers than in toddlers.

Traditional treatments didn’t work, and what followed was a slew of doctor’s appointments and surgeries, as well as days in the hospital where Nic was hooked up to an NG tube wired down his esophagus in an attempt to nourish his body.

But the more doctors fed him, the more Nic’s health declined.

“You could see that he was always in pain when he ate, but doctors kept thinking he wasn’t getting enough food,” Amylynne said. “Later, they found out they were killing him.”

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In the end, 15 gastroenterologists weighed in on Nic’s case, but at the time, the one he was seeing said there was nothing he could do, Amylynne said.

That’s when Amylynne began researching more therapies and assembling what she called “a dream team of doctors” to try to save her son.

“I just wouldn’t listen to them, so I relied on my faith,” said Amylynne, who is a born-again Christian.

By January 2009, when he was about 4, Nic became completely line dependent for food and used a wound vac to avoid infection and sustain his life. In April, he underwent the colectomy, a procedure doctors weren’t sure he’d survive but had the potential to heal him. Nic only got sicker.

“’All we’re doing is keeping him alive for as long as we can,’” Amylynne recalled Nic’s surgeon saying.

As Nic fought for his life, his gastroenterologist at the time wrote a letter to Jacob, then a researcher at the Medical College of Wisconsin who had been working on a rat model for genetic sequencing. He asked him if he would consider sequencing an actual human being, he told him about Nic, and he forwarded Amylynne’s CaringBridge website, where she documented her family's journey.

“I didn’t really understand [DNA sequencing] truthfully, but it was just … ‘If this gives us hope and the possibility that it could save his life, then let’s do it,’” Amylynne said.

Doing the unthinkable

After the medical college agreed to move forward and passed proper regulatory measures, Amylynne and Jacob had to figure out how they were going to pay for the sequencing. At the time, sequencing Nic’s entire genome would have cost about $1 million. But doing only 1.5 percent of the genome, called exome sequencing, was cheaper. They ended up going with that option in July and paying $100,000, which was gathered in donations.

DNA sequencing begins with a sample of DNA like blood, as is most common and was the case for Nic, or saliva or a muscle biopsy, Jacob said. For whole exome sequencing, scientists then run the DNA sample through a sequencing machine and it spits out pieces of DNA. Today, the most common technology is offered by Illumina, which analyzes 150 bases and generates 6 billion pieces of data— 3 billion from the sequenced individual’s mother and 3 billion from his or her father, Jacob said.

The Human Genome Project, an international effort to sequence and map the genome that was completed in 2003, created a reference against which scientists may compare other genomes to identify variations that may be relevant to the individual’s clinical disease. Then, scientists do a second test with another technology to validate results, Jacob said.

“I was told it could take up to three years; we were told we may not find anything,” Amylynne recalled, “but it ended up being just a few months, I believe, and it was November when I got a phone call.”

In February 2010, doctors confirmed that Nic had a one-in-a-billion genetic mutation, XIAP.

“They checked it with my blood and they basically told me that I gave it to him,” said Amylynne, choking back tears. “Sadness,” “upset” and “guilty” were all feelings that washed over Amylynne that day, but the news also suggested hope— a prospect she approached with caution.

“I think by that time I was so jaded from everything we had gone through, it wasn’t like I was jumping up in the air. I was also almost fearful, I think,” Amylynne recalled. “I had all these different things going through my head like, ‘Oh, we found it! What does that mean? Do we have a treatment for it? Does that mean it’s fatal? Does he have only this long to live?”

The mutation ultimately signaled apoptosis, a condition wherein Nic could not digest food properly and suffered inflammation, leading to more holes formed in his abdomen from which stool leaked. The diagnosis cleared doctors to do a bone marrow transplant, a procedure Amylynne had been requesting for years.

July 14, 2010, Nic received the transplant, which helped until about 28 days later, when he developed a brain infection. Available medications didn’t work to heal him, so Amylynne had to fight for her son again to obtain another drug, foscarnet, which the Food and Drug Administration had been taken off the market. She called contacts she’d made in the pharmaceutical industry, journalists, doctors— anyone she knew— to try to access it from the drug company.

“It was fortunate that, through those connections, they were able to release it,” said Amylynne, who added that she has since advocated for other patients to receive orphan drugs.

After spending numerous days in the hospital (Amy stopped counting at day 800), Nic is still recovering mentally and emotionally. The boy missed out on day care, pre-K and all but the last six weeks of kindergarten as he was required to be quarantined either in the hospital or at home while immunosuppressed.

“Even with the grocery store, I had to go at midnight or 1 a.m. if I took Nic, and most of the time Nic was with me,” she said. “We were pretty big church people, and after the transplant I couldn’t take him to church anymore because there were too many people that might be sick.”

Increasing access to DNA sequencing

Amylynne said starting the One in a Billion Foundation a few months ago stemmed largely from people reaching out to her over the past six years to learn more about DNA sequencing.

Bioethicists and geneticists agree that in the far-off future, every child could undergo DNA sequencing, but experts like Jacob said children like Nic would be prioritized immediately if there was expanded access.

“What’s practical today is we really need to help the patients that have these undiagnosed diseases, and undiagnosed disease is often rare disease,” Jacob said, “and rare disease often sounds uninteresting, but rare is a medical condition— it means its less than 200,000 people with it.”

Nic Volker in 2016.

Nic Volker in 2016. (Courtesy Amylynne Volker)

Through her foundation, Amylynne wants to jump-start programming, such as scholarships and recreational camps, for children like Nic who have survived seemingly insurmountable diseases and still suffer trauma from their experiences, but don’t belong to established communities of survivors. Recently, Nic was diagnosed with post-traumatic stress disorder (PTSD).

“Having a rare disease doesn’t fit into the mold,” Amylynne said. “There are a lot of kids who have cancer, so there is a lot of programming for that, but [Nic] didn’t have cancer, so hopefully we can develop programming for those kids to fit in.”

Amylynne also hopes to increase awareness of DNA sequencing and, through the legislation, expand access to families in need. She started the initiative in Wisconsin that led to the law that allowed people with seizure disorders to access cannabinoid (CBD) oil, a concentrated component of marijuana that studies have linked to reduced seizures. In 2012, Nic developed seizures and underwent whole exome sequencing in 2013 to unveil markers for epilepsy.

Although Nic continues to cope with trauma through therapy, the past few months have marked “the best summer he can remember,” Amylynne said.

The family goes to a local recreation club where Nic zooms down the big water slides, and recently, the Volkers celebrated Nic’s six-year bone marrow transplant anniversary by going to Great Wolf Lodge in Wisconsin Dells, Wisconsin, a park with water slides and hotels. He’s been able to do things he never has before, Amylynne said.

“Nic likes to quote a lot of TV shows and movies— from ‘Guardians of the Galaxy,’: ‘It’s been a tough run so far.’” He likes to say that all the time,” Amylynne said. “He really is a comeback kid.”