Rare disorders in infants

sen. nellie pou

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

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, , 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, , 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, 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.

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