How One Number Could Change the Lives of People With a Rare Disorder
To most people, Q93.51 would seem like an arbitrary collection of letters and numbers. But for Terry Jo Bichell, it represents an important victory, and the hope of something better for her son Lou.
Lou, 19, is the youngest of five siblings, and the only one born with Angelman syndrome—a genetic condition characterized by a happy, excitable demeanor, but also by absent or minimal speech, delayed development, movement problems, and a high risk of seizures. It’s estimated that between 1 in 12,000 to 1 in 20,000 people have the condition, although exact figures are hard to come by since many are misdiagnosed with autism or cerebral palsy.
In the past,—a master list of health problems, as defined by the World Health Organization. These codes might seem like bureaucratic arcana, but they have serious effects on people’s lives. Researchers can use them to interrogate large databases and find out how many patients have a particular disorder, what secondary problems they experience, what treatments they typically receive, how many times they’re admitted to the hospital, and more. Insurers use them to decide what treatments should be reimbursed. “They’re like social security numbers for diseases,” says Bichell.
