Rare Diseases

Moms of Kids with Rare Genetic Disorder Push for Wider Newborn Screening

SAN DIEGO—Kerri De Nies received the news this spring from her son’s pediatrician: Her chubby-cheeked toddler had a rare brain disorder.

She’d never heard of the disease—adrenoleukodystrophy, or ALD—and she soon felt devastated and overwhelmed.

“I probably read everything you could possibly read online—every single website,” De Nies said as she cradled her son, Gregory Mac Phee. “It’s definitely hard to think about what could potentially happen. You think about the worst-case scenario.”

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ALD is a brain disorder depicted in the 1992 movie “Lorenzo’s Oil,” about a couple whose son became debilitated by the disease. The most serious form of the illness typically strikes boys between ages 4 and 10. Most are diagnosed too late for treatment to be successful, and they often die before their 10th birthday.

The more De Nies learned about ALD, the more she realized how fortunate she and Gregory were to have discovered it so early. Her son’s blood was tested when he was about 10 months old.

California is one of only a handful of states nationwide that screens babies for the gene mutation that causes the disease—a test that dramatically increases Gregory’s chances of survival.

The state began testing newborns for ALD in September 2016, seven months after the federal government added it to the list of recommended screenings. The testing included all babies born after February of that year.

“If you pick it up in the early stages … you are at a much better place in terms of treating it effectively,” said Florian Eichler, a neurologist at Massachusetts General Hospital. “That’s where the newborn screening is so important. It really helps you detect these boys at risk.”

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Eichler said he has seen many families whose boys were diagnosed late. “Listening to families and their ordeal gives you a real sense of what this has done over generations and how much suffering could be prevented through the screening program,” he said.

New York was the first to begin screening, in 2013, followed last year by Connecticut and California. A few other states, including Pennsylvania and Minnesota, have since followed.

“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.

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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…