James Finds a Path to Health

James, 15, struggled a lot before a researcher at Children’s National Hospital found the needle in the haystack of his genome. Four years ago, he could not walk in a straight line down the sidewalk. Enjoying Halloween trick or treating in fall or a beach hike in summer? Out of the question. His gait had become increasingly unsteady. Yet everything changed the day that Seth Berger, MD, PhD, looked at James’ exome — a subset of the genome that can reveal mutations— to help his family find answers.

Dr. Berger, a medical geneticist within our Center for Precision Medicine and Genomics Research and Rare Disease Institute, used advanced biochemical testing, genomic sequencing and artificial intelligence to sift through the patient’s data. He found the problem — DOPA-responsive dystonia, a genetic condition seen in only one out of every million children. In fact, James’ case was even rarer since he had an unusual recessive form.

This discovery led to a cascade of positive events that transformed James’ life for the better. Thankfully, his condition has a known treatment. Laura Tochen, MD, who directs the hospital’s Movement Disorders Program, started him on carbidopa-levodopa— a drug combination used to treat Parkinson’s disease and other neurological disorders. Within two hours, he showed improvement and his gait was almost normal.

Today, James leads an active life. On vacation last summer, he went rock climbing on real rocks for the first time. He loves mountain biking and running along the Maine coast. “He is very proud of what he can do now,” says his father Jeff. “We are so thankful for the team that helped get him here.”