Most patients with rare diseases still lack answers. Families may undergo years of searching in an often painful diagnostic odyssey.

Research by Seth Berger, M.D., Ph.D., a medical geneticist in our Center for Genetic Medicine Research and Rare Disease Institute, aims to harness technologies to shorten this journey and connect families with help sooner. Dr. Berger often publishes accounts of medical mysteries he has solved.

"It's truly stunning what genetic sequencing can find. The outcomes can be life-changing. These cases with life-altering diagnoses don't come along every day, but when they do, they make the hunt to find answers all the more worthwhile," says Dr. Berger.

James finds a path to health

James, age 15, struggled a lot before a researcher at Children's National 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.

Everything changed the day that Dr. Berger took a look at James' exome - a subset of the genome that can reveal mutations - to help his family find answers. Dr. Berger used advanced biochemical testing, genomic sequencing and AI to sift through the patient's data. He found the problem : dopa-responsive dystonia, a genetic condition seen in only one out of every 1 million children. In fact, James' case was even rarer because 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, M.D., who directs the hospital's Movement Disorders Program, started James 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."

Read more stories like this one in the latest issue of Believe magazine.

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