Eight-year-old Isaac Haberman is the only child in South Dakota—one of the nation’s least populated states—known to be receiving treatment for Pompe disease, a rare neuromuscular disorder that affects just 1 in 20,000 to 40,000 live births.
But Isaac’s parents, Christopher and Meg Haberman, suspect there are other kids in their rural state with the illness. That’s why they’re lobbying hard for legislation that would require every baby born in South Dakota to be screened for Pompe as soon as possible.
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“We have become fierce advocates for rare diseases in general, and especially neuromuscular disease,” Christopher said in a phone interview from Sioux Falls, South Dakota’s largest city. “Those kids out there are declining, and early detection is key to treatment. We’ve been pushing to get this approved in South Dakota, but it’s important to make this nationwide and encourage people in other states who feel powerless.”
Added Meg: “I think they needed a family to advocate for this, which hadn’t happened until we decided to do it.”
Technology and Funding Limitations
The Muscular Dystrophy Association (MDA) is pushing strongly for the addition of neuromuscular diseases to the Recommended Uniform Screening Panel (RUSP). This list, developed by the US Department of Health and Human Services, includes a range of life-threatening inherited disorders for which treatments exist.
The Habermans have taken part in numerous virtual meetings of the MDA’s Patient-Focused Drug Development on Pompe disease, as well as the South Dakota Newborn Screening Advisory Committee, whose goal is to identify newborns at risk for such disorders that would otherwise not be detected until damage has occurred.
As its name implies, the RUSP is a series of recommendations, not requirements, with each state free to adjust the list to its own needs and capabilities.
Federal officials added Pompe to the RUSP in 2015; spinal muscular atrophy followed 3 years later. Currently, 26 states and the District of Columbia screen babies for Pompe, according to Paul Melmeyer, MDA’s director of regulatory affairs.
“That, of course, leaves 24 states and several territories that don’t screen for the disease, including South Dakota,” Melmeyer said, estimating that about 30,000 Americans have Pompe—80% of them with the late-onset type.
“When states look at adding new disorders to their newborn screening panels, there are several things to consider,” he said. “One is whether their lab, or the different state labs they’re contracted with, have the technology in-house to conduct the screening. In the case of Pompe disease, it requires a new technology to detect the presence of the enzyme that’s deficient.”
In fact, there could be several logistical and financial reasons why some states choose not to screen for Pompe, even though that disease has been on the RUSP for more than 6 years. These range from not having sufficient technology to conduct such tests to a lack of funding to buy the right equipment.
“It might be the lab doesn’t have enough physical space to add another machine that will run this screen,” Melmeyer said. “Many states don’t actually do newborn screening themselves but instead contract with other states. South Dakota sends all its blood spots to Iowa. New Hampshire sends theirs to Massachusetts, and Alaska sends theirs to Washington.”
The Iowa State Hygienic Laboratory, which is South Dakota’s contracted lab for all newborn screening tests, formally added SMA to its panel and began routine testing for that disease on September 1, 2021. But the Iowa lab does not yet have the needed infrastructure to screen for Pompe, a process officials there say will take 36 months.
Melmeyer said the MDA is also pushing to boost federal funding for the newborn screening program from the current $18 million to around $30 million. “As we see that states take 5 to 10 years to add new disorders to their programs, we see that there’s not enough money, so it’s clear that more resources are needed,” he said.
‘A Very Difficult, Emotional Journey’
A former middle school teacher, Christopher has spent the past 4 years as the pastor of a local Anglican church. Meg is a pharmacist at a nearby hospital.
When Isaac was 2, his parents sought out speech therapy because the toddler was falling behind in speaking ability. They thought it was due to a chronic ear infection.
“During the assessment, we learned that he had muscle weakness in his legs, and we didn’t know that, internally, his muscles were breaking down at a terrifying rate,” his father said.
Within 6 months, Isaac was diagnosed with late-onset Pompe. He was immediately put on alglucosidase alfa (Lumizyme®), an enzyme developed by Sanofi Genzyme in 2006. He received 121 infusions of this drug—which contains acid alpha-glucosidase, the enzyme missing in Pompe—at 14-day intervals until October 19, 2021, when his doctors switched him to Sanofi Genzyme’s newly approved avalglucosidase alfa-ngpt (Nexviazyme®).
Isaac’s infusions cost $34,000 each—more than twice the cost before he switched therapies, because now he’s getting twice the dosage. Fortunately, the Haberman family’s health insurance covers everything beyond the deductible, and Sanofi Genzyme pays for $15,000 a year in infusion-related costs not covered by insurance.
Since beginning the infusions, Meg said, Isaac’s physical transformation has been dramatic.
“We did not know he could improve so much,” she said. “Last year, he started learning how to ski and rock-climb. We never had organized athletics on our radar, but this year he started bugging us to play soccer. I can’t explain the joy of seeing my 7-year-old scoring a goal.”
Isaac’s 11-year-old sister, Jordan, doesn’t have the disease but is a carrier of Pompe.
“It’s been a very difficult, emotional journey, but we’re grateful. The average diagnostic journey takes 7 years,” Christopher said, explaining that, unlike Pompe, many rare diseases don’t even have treatments, let alone cures.
“He’s a happy kid, which is a huge blessing when you’re stuck in a bed for 6 hours every 14 days,” he said, adding that even if only a few kids in South Dakota can benefit from early detection of Pompe, the additional cost of newborn screening for that disease is well worth it.
“South Dakota has only 12,000 live births a year, so screening might produce only 3 or 4 positive Pompe diagnoses per decade,” he said. “But for us, that seems like a sensible tradeoff.”