"It's mind-boggling that not every state is testing," said De Nies, who teaches children's ballet in San Diego. "Families will not know until it could be too late for them."
Advocates, including several moms who lost their sons to the disease, were instrumental in getting the screening law passed in California. Now they are continuing to lobby legislators and pushing health officials to add ALD to screening panels across the nation.
Janis Sherwood said that since her son Sawyer's death from ALD, she has felt an urgency to educate doctors, families and others about the disease. In the past few years, she turned her attention to newborn screening. She believes that as California collects data on how the boys do in treatment, other states will follow. "I think that we are going to see a domino effect as we get more states on board," she said.
About 1 in every 18,000 people have ALD. Of boys with the genetic defect, about 30 to 40 percent will develop the life-threatening form of the disease, which leads to vision, gait and memory problems -- and eventually death. It destroys myelin, the protective surface that surrounds some nerve cells.
Technicians draw the blood of newborns in the hospital soon after they are born. In California, state law requires that the blood be tested for about 80 diseases, including cystic fibrosis, severe combined immunodeficiency and primary congenital hypothyroidism.
Around the nation, testing kits cost a hospital or birthing facility about $120, said Jeff Botkin, who heads the medical ethics division at the University of Utah. "This is an extraordinarily low cost for this number of tests," he said in an email. The tests are typically covered by insurers or Medicaid.
Some conditions on the screening list are relatively common, but ALD is among the rare disorders the tests ferret out that can lead to serious health issues or even death if not detected and treated, Botkin said.
There is no answer to the question of how common a condition should be to merit spending health care dollars to test for it, Botkin said. But many of the conditions for which the federal government recommends screening are rare, which means they could affect 1 in 50,000 babies or fewer. "The major question is whether the condition is treatable," Botkin said.
Both boys and girls get tested for ALD because they can both be carriers of the genetic defect and develop the less serious adult form of the disease. Only boys, however, develop the more serious, ultimately fatal, childhood disease.
When doctors know that boys have the mutation, they perform brain MRIs beginning when the boys are toddlers. If an MRI starts to show telltale changes in the brain, doctors can intervene to halt the progression of the disease.