Medical science is progressing every day, and no one knows it better than the Volker family. Their son, Nicholas, was only 17 months old when he got sick. The first terrifying symptom, a wound that would not heal, led to what would become years of life and death struggle and almost 700 days in the hospital for the little boy.
Nic had a mysterious ailment that caused pencil prick sized holes to appear in his skin, and, even worse, in his intestinal track, leading to sepsis and e coli infections. Doctors had no idea what was wrong with the child, or what how to treat him. Until doctors at Children’s Hospital of Wisconsin decided that the only way to help the then 4 year old child was to sequence his DNA.
Hospital immunologist Bill Grossman told NBC News it is extremely unusual to sequence the entire genetic code of one person — his team usually works on abstract DNA research. “I was shocked [by the request],” Grossman said. “It was a big leap for what we were currently doing.”
A big leap that seems to have saved Nicholas’s life. Once doctors knew that he had the genetic mutation XIAP they were able to determine that a cord blood transfusion, which would essentially give him a new immune system, would help Nicholas.
Nic seems to be on the way to a full recovery, despite the occasional set back. Hopefully this will be the beginning of a new, healthy life for Nic and other children like him!
