Parents are pushing for more states in the US to include adrenoleukodystrophy, a rare brain disease, as part of newborn genetic screening tests, NPR reports.
Adrenoleukodystrophy, which primarily affects boys between the ages of 4 and 10, can be treated with bone marrow transplants if the condition is caught early. The earlier the treatment, NPR says, the better its chances of working.
Otherwise, the disease can lead to myelin loss, which contributes to blindness, loss of muscle control, and even death within a few years. Some 30 percent to 40 percent of boys with the genetic mutation develop the life-threatening version of the disease.
States like California, New York, and Minnesota and a few others have added adrenoleukodystrophy to their batteries of genetic newborn screening tests, though not all, according to NPR.
"It's mind-boggling that not every state is testing," says Kerri De Nies, whose son has the condition. "Families will not know until it could be too late for them."
NPR notes that parents and advocates were a central part of getting California to adopt the test and are now lobbying public health officials and legislators around the country to get them to also begin screening.