TRENTON – Legislation sponsored by Senator Nellie Pou (D – Passaic and Bergen) that would require the screening of all infants born in the State for two rare and serious genetic diseases was approved by the Senate on June 26, 2014. Inspired by the experience of an Elmwood Park couple whose young children were affected by Hunter syndrome, the bill now awaits action by Governor Christie.
Mucopolysaccharidosis I (MPS I) is a genetic lysosomal disorder, which symptoms appear during childhood and can cause early death due to organ damage. Mucopolysaccharidosis II (MPS II), or Hunter syndrome causes permanent progressive damage affecting appearance, mental development, organ functions and physical abilities.
“By diagnosing and managing these two syndromes early, we can give these children a chance to enjoy a higher quality of life and to live a longer life,” said Senator Pou. “Children with MPS I and II deserve to live a childhood as normal as possible, and systematic screening would help that.”
Under the bill (S-668), systematic screening of all infants born in New Jersey would start six months after technical conditions are met and federal regulations allow it.
“There is nothing worse for a parent than seeing their child taken away by something they can’t fight,” added Senator Pou. “With this bill, we want to give families a chance to fight the disease.”
Senator Pou was moved to act on this issue by the testimony of Deena and Jeff Leider, residents of Elmwood Park, whose two sons have been diagnosed with Hunter Syndrome. Deena and Jeff’s first son, Jason, was diagnosed with Hunter syndrome at the age of five in 2011. Because of the lack of awareness of Hunter syndrome in the medical community, it took months before a doctor could properly diagnose Jason. The currently available treatment for Jason stopped the swelling of his organs that had occurred because of Hunter Syndrome, but his brain has suffered irremediable harm. Because of his late diagnosis and care, Jason cannot write, or run, like other kids his age.
Jason’s little brother, Justin, was diagnosed at a younger age, when he was two year’s old. Thanks to this early detection, Justin has had less health issues related to Hunter Syndrome than Jason; he can write, and he can run like other children. The Leiders, and hundreds of other parents across the country, are hopeful that a new drug which would prevent Hunter Syndrome from affecting the brain will receive an FDA approval as early as next year.
There is no cure for Hunter Syndrome yet, and people who suffer from this disease have a life expectancy of only fifteen years. A system of early detection and treatment would allow hundreds of families like the Leiders to have a better quality of life and more hope for the future.
The bill is designated as the “Let Them Be Little Act” to recognize that children with Hunter Syndrome are often unable to enjoy the simple pleasures of youth because so much of their lives are occupied with undergoing medical treatments and tests rather than just being kids.
The Senate approved the legislation by a unanimous vote. It is now on the Governor’s desk awaiting his signature.