UCLA’s groundbreaking method of diagnosis helps pinpoint treatment
Calvin Lapidus’ story
Source: Medical Xpress
After rounds of failed tests to uncover what was causing her son’s developmental delays and gastrointestinal distress, Andrea Lapidus decided to try something new. Her son Calvin became the first patient at the University of California, Los Angeles to undergo exome sequencing, a blood test that analyzes more than 20,000 genes at once to pinpoint a diagnosis.
As a result, Calvin was diagnosed with a rare genetic condition known as Pitt-Hopkins syndrome. Although there is not yet a cure, having a diagnosis allowed Calvin to begin the appropriate treatment plan to reduce his symptoms and live a more fulfilling life.