When he was four years old, Nic Volker had his exome sequenced to search for the cause of his severe inflammatory bowel disease. Researchers from the Medical College of Wisconsin uncovered a mutation on his X chromosome that could be behind his disorder and gave Nic's physicians a treatment idea.
Now 11, Nic is still struggling, the Milwaukee Journal-Sentinel reports, though the immune disorder behind his severe inflammatory bowel disease seems to be in check.
The umbilical cord blood transplant he received seems to have saved his life, but Nic has a form of epilepsy, likely due to an encephalitis infection he had, that leads him to lose muscle tone up to a hundred times a day, possibly falling down if he'd been standing and he has to grapple with no longer having a colon. He is also being treated for post-traumatic stress disorder.
"There are lots of things about him that are right, and there are a lot of things about him that require attention," Alan Mayer, the pediatric gastroenterologist who first raise the possibility of sequencing Nic's genome, tells the Milwaukee Journal-Sentinel reports. "With regard to his immune system, which was the original problem, that seems to be solved."
Still, the Milwaukee Journal-Sentinel reports that Nic wants to learn how to break dance and do karate.