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Children's Health Channel
Reported July 4, 2011

Decoding Genetics: Sequencing Genome

WAUWATOSA, WI. (Ivanhoe Newswire) -- A decade after the human genome project created the first complete blueprint of a human being, a young boy with a rare, devastating disease is one of the first to benefit from that effort, forever changing the future of health care.

Like most kids his age, Nic Volker loves playing with his cars, shooting guns, and asking, “Why?”, but Nic is far from your typical six-year-old. He’s a medical mystery, spending more than 700 days in the hospital with a gut disease doctors couldn’t diagnose. His own immune system was attacking his intestinal tract but no one knew why.

“What the surgeon would tell me is we’re just keeping him alive," Amylynne Volker, Nic's Mom, told Ivanhoe. "We can’t do this forever.”

Nic’s journey began shortly before his second birthday. Doctors thought he might have Crohn’s. He wasn’t eating and dropped down to 17 pounds.

“He couldn’t walk anymore, and he was always in pain, "Amylynne said.

By age four, Nic had 130 surgeries, including one to remove his colon. At one point, Nic had so many ulcers in his stomach, holes tore through his skin, and feces pored out.

“I didn’t want him to die. He was so sick, and he’s not healing, and I wanted to, you know, I wanted someone to find the answers for him,” Amylynne said. 

Believing his genes could hold the key, doctors at Children’s Hospital of Wisconsin and Medical College decided to do something that had never been done before, sequence Nic’s genome and base his future treatments on their findings.

“Nic is the first case in the world that I think anyone is aware of where genome-wide or exome-wide sequencing was used to make a diagnosis,” David Dimmock, M.D., of Children's Hospital of Wisconsin/Medical College of Wisconsin, explained.

After looking at 20-thousand genes, doctors pinpointed the mutation responsible for Nic’s illness.

“Xiap deficiency. Fancy acronym for his immune system missing a protein,” David Margolis, M.D., a professor of pediatrics at Medical College of Wisconsin and program director of bone marrow transplant program at Children's Hospital of Wisconsin, stated.

The diagnosis meant doctors could treat Nic with a bone marrow transplant using umbilical cord blood, essentially giving him a new immune system.

“We do a complete control-alt-delete. We completely reboot it and put in a new operating system,” Dr. Margolis said.

Now, Nic’s back to playing and more importantly eating.

"Steak is his favorite food with A-1 sauce, but he’s leaning towards McDonald's happy meals lately. Hamburgers with french fries and always a toy,” Amylynne said.

Just like a six-year-old should. During our interview, Nic had to be hospitalized but has since been released and is doing ok.

More Information

Click here for additional research on Decoding Genetics: Sequencing Genes

Click here for Ivanhoe's full-length interview with Dr. David Dimmock

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marsha Hitchcock at mhitchcock@ivanhoe.com

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