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Would Proposal to Screen for Rare Disorder Delay Other Newborn Screenings?

Bill would amend existing law amid concerns that testing for five other rare diseases might be stalled

sen. nellie pou
State Sen. Nellie Pou, sponsor of legislation that would require hospitals to screen newborns for Hunter syndrome, and Jeff Leider, whose two young sons have the rare and ultimately fatal genetic disorder.

Is Hunter syndrome, a rare genetic disorder that leads to early death, prevalent enough in New Jersey to screen every newborn for it? That’s the question the Legislature faces as it tries to balance the potential to help children with the disease with the possibility of slowing down implementation of other newborn screenings.

The Let Them Be Little Act, S-668, would require hospitals to screen for Hunter syndrome, a progressive disorder that affects the body’s ability to metabolize and leads to a variety of physical and mental disabilities and, ultimately, early death.

The bill would amend a law enacted in 2012, known as Emma’s Law, by adding the Hunter syndrome to a list of five other disorders for which infants will soon be screened.

Elmwood Park resident Jeff Leider, the father of two young sons with Hunter syndrome, drew from personal experience in lobbying for the law. His 7-year-old son Jason wasn’t diagnosed until he was nearly 5 years old. When Jason was diagnosed, doctors then checked his younger brother Justin, who is now 5 and was diagnosed at age 2.

Leider told the Senate Health, Human Services and Senior Citizens Committee on January 27 that Justin has benefited from treatment because he was diagnosed at an earlier age than Jason. While no treatment is available that will extend the boys’ lives beyond the age of 15, a clinical trial is under way that could help future newborns if they are screened soon after birth.

“Now I know I can’t save my children, you know, my children weren’t diagnosed early,” Leider said. “If children were to be diagnosed early, in newborn screening, they would have a very, very good life” as new treatments are developed.

Kelly Leight
Kelly Leight, an advocate for newborn screening for genetic disorders.

But the bill drew opposition from Kelly Leight, an advocate for newborn screening, who expressed concern that the bill would delay screenings already approved under Emma’s Law.

Leight said there are only about 500 people with Hunter syndrome in the United States, and that there are no tests currently available to screen for the disease among newborns.

Leider’s sons were diagnosed using a series of expensive tests that are available for children who have symptoms of the disease, which generally don’t appear until the second year of life. While scientists are working to develop a screening test, it could be years before one is available.

Leight noted that the state is already in the process of implementing the screenings for the five disorders covered by Emma’s Law. The current state budget includes $1.6 million to purchase special machinery to conduct the tests]. However, the machines won’t be effective in testing for Hunter syndrome.

If the law is amended, screenings that were scheduled to start in 2015 could be delayed by a year or more, said Leight, a member of the state Newborn Screening Advisory Committee since 2002.

The way the law is currently written, the screenings will not begin until after four different requirements have been met for all of the disorders that would be screened. These requirements have been met for the five disorders covered by Emma’s Law. Adding Hunter syndrome to the law would stop the implementation until all of the requirements have been met for it as well, which could take years. The state expects to detect at least 25 newborns with the other genetic disorders included in Emma’s Law, according to Leight, but she said there may be less than one child per year born with Hunter syndrome in New Jersey.

“Essentially what we would be doing is turning New Jersey’s babies into a clinical trial to pilot and collect data on population screening for this very rare disease,” Leight said. She said the state should wait to use the results from scientists in other states to develop screenings for Hunter syndrome and shouldn’t add the condition to Emma’s Law.

She noted Hunter syndrome hasn’t been nominated for newborn screenings with the U.S. Centers for Disease Control and Prevention committee that advises the federal government on which genetic diseases should be tested. She suggested that the proposed bill be changed so that the state would wait for the CDC committee to approve a test for Hunter syndrome.

Leider objected to Leight’s comments. He said he believes that the estimates for the number of people with Hunter syndrome is inaccurate because some children die before their conditions are correctly diagnosed.

“I believe in my heart that there are a lot of families out there that have this disease that are being misdiagnosed,” he said.

The Senate committee voted 9-0 to release the bill, after Sen. Ronald L. Rice (D-Essex) said he would prefer to see the bill amended to address Leight’s concerns rather than to delay the measure.

Bill sponsor Sen. Nellie Pou (D-Bergen and Passaic) said Leight brought her concerns to her recently and that it was never her intention to delay the implementation of Emma’s Law. She expressed hope that the bill could be changed to allow both for Emma’s Law implementation to move forward while also beginning to screen for Hunter syndrome.

“I’m happy with to work with them to make sure that the two do not conflict with one another,” Pou said of Leight and others concerned about the bill.

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