Decoding Nic’s Genetics: A Medical Mystery
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. Robyn Haines has the today’s Healthy Living. Like most kids his age, Nic Volker loves playing with his cars 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. 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. It got worse. A temporary colostomy provided little relief. Nic developed a blood infection-sepsis-and was given three days to live. At one point, Nic had so many ulcers in his stomach, holes began to appear all over his abdomen…and stool began spilling out. 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. After looking at 20-thousand genes, doctors pinpointed the mutation responsible for Nic's illness. He had an XIAP deficiency. Doctors say it’s a fancy acronym for his immune system missing a protein. The diagnosis meant doctors could treat Nic with a bone marrow transplant using umbilical cord blood –essentially giving him a new immune system. Now, Nic's back to playing and more importantly eating.