Amy Lynn Santiago’s three-year-old son Nicholas Volker was suddenly, terribly ill. Problems that had started with a fever and an abscess that would not heal now trapped the boy in the hospital for years. He endured multiple surgeries, chemotherapy, dangerous and powerful drugs, and the permanent removal of his colon. Finally, as Nick’s care exceeded the family insurance’s two million dollar lifetime benefits cap, the physicians in his Milwaukee hospital decided to sequence his genome.
Upon discovering that he had two rare genetic diseases, they were able to successfully treat them with a bone marrow transplant. However, Nicholas, now 11, lives with long-term side effects from his ordeal, including PTSD, learning disabilities, social issues from living in near isolation for four years, and a permanent ileostomy.
His parents believe that gene sequencing could have saved him and others from much of what he went through, and advocate for this sort of personalized medicine through their nonprofit One in a Billion Foundation.
Dr. Michael Goldman and the San Francisco State University Department of Biological Sciences also see the promise of personalized genomic medicine, and hosted a one-day conference in South San Francisco June 2nd to highlight developments in the field.