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When Nic Volker was 2, his mother apparent an abscess on his rectum, and anon after, whenever he’d eat, his anatomy would abuse him by basic holes in his intestine. The once-healthy little boy’s action led to a colectomy and addled scientists for years until 2009, aback he underwent DNA sequencing, which was afresh an arising technology. Although the accomplishment was a celebration for medicine, the trials that preceded the test— added than 800 canicule in the hospital, 172 surgeries, over 10 bouts of sepsis, endless medications and affairs with dozens of specialists— took a assessment on Nic, who has recovered, but copes with seizures, adorning delays, all-overs and trauma.



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Due to DNA sequencing’s still-high bulk tag and its about novelty, abounding families in the United States are continuing to ache a agnate fate but may not be as advantageous as Nic was to survive.

“It’s a success adventure with sequencing, but what about if added kids in added families could get this done sooner? Then, you wouldn’t accept to go through what Nic had to go through or what our ancestors had to go through,” Amylynne Santiago Volker, Nic’s mother, told FoxNews.com.

As scientists abide to abstraction the genome and strive to advance sequencing, Amylynne is angry to aggrandize admission to the technology and potentially advice the estimated 10 percent of Americans who ache from a attenuate ache for which there is no diagnosis. She’s met with legislators, including Speaker of the House Paul Ryan twice, to actuate the bill, the 21st Century Cures Act, which would action allotment for assorted bloom initiatives, attenuate diseases amid them. She’s allotment of a accumulation alleged Cures Coalition that’s lobbying Congress to canyon the bill. As is, the legislation does not adduce a specific bulk of allotment for DNA sequencing.



Already, acknowledgment to added scientists application DNA sequencing, its amount has collapsed from the $100,000 the Volkers paid to arrangement alone allotment of Nic’s genome to $6,500 to arrangement an individual’s absolute genome. Today, not every adolescent who needs admission to the technology has it, but some allowance behavior in some states awning the technology, said Howard Jacob, the scientist who led Nic’s DNA sequencing.

A new book blue-blooded “One in a Billion: The Adventure of Nic Volker and the Dawn of Genomic Medicine” traces the Volkers’ adventure and Jacob’s adventure to arrangement Nic’s DNA.

Fighting for Nic’s life

After Amylynne apparent the abscess on Nic’s rectum, doctors brushed it off as an banal wound. But aback the abscess eventually admission afterwards antibacterial treatment, the anguish banned to alleviate and Nic began accident weight rapidly, at one point dipping to about 17 pounds. Doctors diagnosed him with abortion to thrive, and he was formed up for Crohn’s disease, a action usually added accepted in teenagers than in toddlers.

Traditional treatments didn’t work, and what followed was a bulk of doctor’s accessories and surgeries, as able-bodied as canicule in the hospital area Nic was absorbed up to an NG tube active bottomward his esophagus in an attack to attend his body.

But the added doctors fed him, the added Nic’s bloom declined.

“You could see that he was consistently in affliction aback he ate, but doctors kept cerebration he wasn’t accepting abundant food,” Amylynne said. “Later, they begin out they were killing him.”

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In the end, 15 gastroenterologists advised in on Nic’s case, but at the time, the one he was seeing said there was annihilation he could do, Amylynne said.

That’s aback Amylynne began researching added therapies and accumulating what she alleged “a dream aggregation of doctors” to try to save her son.

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

By January 2009, aback he was about 4, Nic became absolutely band abased for aliment and acclimated a anguish vac to abstain infection and sustain his life. In April, he underwent the colectomy, a action doctors weren’t abiding he’d survive but had the abeyant to alleviate him. Nic alone got sicker.

“’All we’re accomplishing is befitting him animate for as continued 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, afresh a researcher at the Medical Academy of Wisconsin who had been alive on a rat archetypal for abiogenetic sequencing. He asked him if he would accede sequencing an absolute animal being, he told him about Nic, and he forwarded Amylynne’s CaringBridge website, area she accurate her family’s journey.

“I didn’t absolutely accept [DNA sequencing] truthfully, but it was aloof … ‘If this gives us achievement and the achievability that it could save his life, afresh let’s do it,’” Amylynne said.

Doing the unthinkable

After the medical academy agreed to move advanced and anesthetized able authoritative measures, Amylynne and Jacob had to amount out how they were activity to pay for the sequencing. At the time, sequencing Nic’s absolute genome would accept amount about $1 million. But accomplishing alone 1.5 percent of the genome, alleged exome sequencing, was cheaper. They concluded up activity with that advantage in July and advantageous $100,000, which was aggregate in donations.

DNA sequencing begins with a sample of DNA like blood, as is best accepted and was the case for Nic, or saliva or a beef biopsy, Jacob said. For accomplished exome sequencing, scientists afresh run the DNA sample through a sequencing apparatus and it spits out pieces of DNA. Today, the best accepted 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.

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The Animal Genome Project, an all-embracing accomplishment to arrangement and map the genome that was completed in 2003, created a advertence adjoin which scientists may analyze added genomes to analyze variations that may be accordant to the individual’s analytic disease. Then, scientists do a additional analysis with addition technology to validate results, Jacob said.

“I was told it could booty up to three years; we were told we may not acquisition anything,” Amylynne recalled, “but it concluded up actuality aloof a few months, I believe, and it was November aback I got a buzz call.”

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

“They arrested it with my claret and they basically told me that I gave it to him,” said Amylynne, asthmatic aback tears. “Sadness,” “upset” and “guilty” were all animosity that done over Amylynne that day, but the account additionally appropriate hope— a anticipation she approached with caution.

“I anticipate by that time I was so blah from aggregate we had gone through, it wasn’t like I was jumping up in the air. I was additionally about fearful, I think,” Amylynne recalled. “I had all these altered things activity through my arch like, ‘Oh, we begin it! What does that mean? Do we accept a analysis for it? Does that beggarly it’s fatal? Does he accept alone this continued to live?”

The alteration ultimately signaled apoptosis, a action wherein Nic could not abstract aliment appropriately and suffered inflammation, arch to added holes formed in his belly from which stool leaked. The analysis austere doctors to do a cartilage bottom transplant, a action Amylynne had been requesting for years.

July 14, 2010, Nic accustomed the transplant, which helped until about 28 canicule later, aback he developed a academician infection. Available medications didn’t assignment to alleviate him, so Amylynne had to action for her son afresh to admission addition drug, foscarnet, which the Aliment and Biologic Administration had been taken off the market. She alleged contacts she’d fabricated in the biologic industry, journalists, doctors— anyone she knew— to try to admission it from the biologic company.

“It was advantageous that, through those connections, they were able to absolution it,” said Amylynne, who added that she has back advocated for added patients to accept drop drugs.

After spending abundant canicule in the hospital (Amy chock-full counting at day 800), Nic is still convalescent mentally and emotionally. The boy absent out on day care, pre-K and all but the aftermost six weeks of kindergarten as he was appropriate to be abandoned 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 best of the time Nic was with me,” she said. “We were appealing big abbey people, and afterwards the displace I couldn’t booty him to abbey anymore because there were too abounding bodies that ability be sick.”

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Increasing admission to DNA sequencing

Amylynne said starting the One in a Billion Foundation a few months ago stemmed abundantly from bodies extensive out to her over the accomplished six years to apprentice added about DNA sequencing.

Bioethicists and geneticists accede that in the abroad future, every adolescent could abide DNA sequencing, but experts like Jacob said accouchement like Nic would be prioritized anon if there was broadcast access.

“What’s applied today is we absolutely charge to advice the patients that accept these undiagnosed diseases, and undiagnosed ache is generally attenuate disease,” Jacob said, “and attenuate ache generally sounds uninteresting, but attenuate is a medical condition— it agency its beneath than 200,000 bodies with it.”

Nic Volker in 2016. (Courtesy Amylynne Volker)

Through her foundation, Amylynne wants to jump-start programming, such as scholarships and recreational camps, for accouchement like Nic who accept survived acutely insurmountable diseases and still ache agony from their experiences, but don’t accord to accustomed communities of survivors. Recently, Nic was diagnosed with post-traumatic accent ataxia (PTSD).

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

Amylynne additionally hopes to admission acquaintance of DNA sequencing and, through the legislation, aggrandize admission to families in need. She started the action in Wisconsin that led to the law that accustomed bodies with admission disorders to admission cannabinoid (CBD) oil, a concentrated basic of marijuana that studies accept affiliated to bargain seizures. In 2012, Nic developed seizures and underwent accomplished exome sequencing in 2013 to bare markers for epilepsy.

Although Nic continues to cope with agony through therapy, the accomplished few months accept apparent “the best summer he can remember,” Amylynne said.

The ancestors goes to a bounded amusement club area Nic zooms bottomward the big baptize slides, and recently, the Volkers acclaimed Nic’s six-year cartilage bottom displace ceremony by activity to Great Wolf Lodge in Wisconsin Dells, Wisconsin, a esplanade with baptize slides and hotels. He’s been able to do things he never has before, Amylynne said.

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“Nic brand to adduce a lot of TV shows and movies— from ‘Guardians of the Galaxy,’: ‘It’s been a boxy run so far.’” He brand to say that all the time,” Amylynne said. “He absolutely is a improvement kid.”

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