SPRINGFIELD – You can tell by the looks on their little faces and all the wailing that babies would RATHER NOT be subjected to a routine blood test soon after birth.

But most parents would consider this brief moment of distress for their newborns well worth it.

The few drops of blood – obtained through a needle stick in an infant's tender heel within 48 hours of birth – are screened at a state lab for dozens of devastating and mostly inherited medical conditions that would otherwise go undetected while there was still time for early treatment.

Illinois hospitals screen newborns for 38 different disorders, among them cystic fibrosis and sickle cell diseases, and starting next year, will screen for five more: Pompe, Krabbe, Gaucher, Fabry and Niemann-Pick diseases, all part of a family of inherited genetic diseases called lysosomal storage disorders.

Of the five, parents are most likely to have heard of Pompe disease – the genetic disorder featured in the recent film, "Extraordinary Measures," a partly fictionalized account of a real-life father's quest to save the lives of his two children with Pompe.

There are more than 40 lysosomal storage disorders, or LSDs, each caused by a genetic defect that results in a deficiency of the enzyme that breaks down waste substances accumulating in the cells' lysosomes, according to Genzyme, a biotechnology company that developed a treatment called Myozyme for Pompe disease.

All LSDs worsen over time and are debilitating, the company says, and some, including Pompe, are life-threatening. Symptoms of Pompe, which include deterioration of the heart and breathing muscles, typically appear in the first few months of life and often result in death before a child's first birthday.

Expanding screening in Illinois

Efforts to screen Illinois children for lysosomal storage disorders started long before "Extraordinary Measures" appeared in theaters.

About four years ago, Bob Evanosky, a Naperville dad with three sons who have a lysosomal storage disorder, and Dr. Barbara Burton, a genetics specialist at Children's Memorial Hospital in Chicago, approached state Sen. Dale Righter, R-Mattoon, about sponsoring legislation to add LSDs to required infant screening.

Burton recalls she and Evanosky mobilized support from patient advocacy organizations and individual patients and family members, then worked to win the Illinois Department of Public Health's support for the legislation. Evanosky says he turned to Righter because several years earlier the senator had sponsored another bill that expanded infant screening to include many more diseases.

Righter says his first infant screening bill was inspired by a baby – the grandson of friends – who died of a genetic disorder that would have shown up in a screening. His second bill requiring lysosomal storage disorder screening, SB1566, was passed in late 2007.

Why is screening important? Many children with LSDs are misdiagnosed and miss treatments that could have helped, had they been administered at the optimal time while the children are still asymptomatic, Evanosky says.

His own three sons (the oldest two of whom, twins John and Christopher, were initially misdiagnosed with cerebral palsy) all have metachromatic leukodystrophy, one of the many lysosomal storage disorders for which Illinois won't be screening starting next year.

But Evanosky said he plans to continuing to work for further expanded screening for all these disorders.

"I don't care which of the LSDs you have, they kill you, and it's a miserable way to die," he adds. "And unfortunately, a large percentage of the LSDs target kids. Some show up when you're older in life, but for the most part, they're kid killers."

Rare but devastating

According to the Evanosky Foundation, an advocacy and family support organization founded by Bob Evanosky, all LSDs combined occur in up to one in 5,000 births. By comparison, autism affects about one in 150 children,

Lysosomal storage disorders are so rare, even neurologists like Dr. Gail Kennedy at Carle Clinic don't run into them often and can find them difficult to diagnose, Kennedy says.

How well available treatments work depends on how early the children get them, Kennedy said, but often by the time she sees a child with a rare disorder, significant impairment has already occurred.

"If we're screening at birth, we're going to pick up the infantile ones where the FDA-approved treatments are proven to be effective," she added.

Claudia Nash, administrator of newborn screening for the Illinois Department of Public Health, said Illinois will be the first state to test for all five of the lysosomal storage disorders for which commercial testing has been developed.

Since Righter's legislation was passed, the state has been preparing to launch the expanded screening, and Missouri and New Mexico have also adopted legislation to expand their own infant screening programs to include LSDs, she said.

Since there's currently little or no screening for lysosomal storage disorders being done in the U.S., it's difficult to project how many Illinois children will be helped by screening for five of these disorders, Nash said. Best estimate, she adds, it might be 10 kids a year for all five.

But that small number is characteristic of the results of all newborn disease screening, Nash points out. And while the number of children found with LSDs may be small, she said, "it's such a devastating condition."

Illinois plans to phase in expanded screening, starting with all babies born at two Chicago area hospitals, Northwestern Memorial and University of Chicago hospitals, starting Nov. 1 of this year through May 31, 2011. Expanded screening will begin for all children born at all Illinois hospitals after that.

And babies won't be subjected to any more discomfort in the process. Lysosomal storage disorder screening will be included in the same heel-stick blood test already being done. The state lab that processes the blood tests will increase its fees on hospitals from $59 to $78 to cover the extra cost, Nash said.

On the Web
Read more about Evanosky's children and his quest to expand screening at http://www.evanoskyfoundation.org.