15-month-old Kenan Witczak can't see and has lost his ability to swallow.
"First six months he progressed like any other newborn would," said mother Natasha Spencer.
But then, the odd symptoms began. After weeks of uncertainty came the devastating news.
"You find out that your son has maybe a year to live," said Natasha Spencer.
Kenan has a rare inherited genetic disorder called Krabbe disease.
His body lacks an enzyme needed to protect his nerves. It's called a lysosomal storage disease or LSD.
The Spencer-Witczaks believe had Kenan been screened for this disorder at birth, an experimental stem cell transplant could have slowed or stopped the disease.
The family is upset because years before Kenan was born, in 2007, the State of Illinois passed a law to start testing for Krabbe along with four other lysosomal disorders as part of the state's newborn screening program. But the additional tests are still not available to the public.
"The whole point of newborn screening is to detect conditions before they appear so that treatment can be most effective," said Dr. Barbara Burton, metabolic disease specialist at Lurie Children's Hospital.
Technical problems and a switch to a new testing method have been cited for the slowdown.
"We are in the process of finding new equipment to the tune of $1 million, so it's expensive, and the staff has received training from the CDC," said Dr. Lamar Hasbrouck, director of the Illinois Department of Public Health.
An ethical debate is also in play. The original goal of newborn screening was to look for disorders that were treatable.
These expanded screenings include identifying markers for diseases that may have no treatments. And to add to the controversy, just because the child may have a marker doesn't guarantee they will come down with the disease.
Critics argue the additional screens could result in unnecessary emotional anguish, extra testing or risky experimental treatments for babies who may never get sick.
"We still need to do a lot more research in order to determine if these conditions are ready for prime time," said Dr. Lainie Friedman Ross, medical ethicist at University of Chicago Medicine.
Friedman Ross is also on an advisory committee to the state, but says she's speaking today as an ethicist, saying parents should have a choice whether they want their child screened for certain disorders and that screenings that are not well understood and don't have documented treatments should be done as research.
The Spencer-Witczaks don't know if they would have done the stem cell treatment for Kenan but wish they'd had the option. Kenan's form of Krabbe is fatal. They say they're making what's left of his life as full as possible.
New York is the only state that mandates screening for Krabbe. Tests to screen the disease in Illinois are expected to be ready early next year.
Illinois now has seven lysosomal storage disorders mandated to the newborn screening program. Two more were added after the initial five were approved.
Extra web sites:
For more information about the Spencer-Witczak family: http://kissesforkenan.org/
Illinois Department of Public Health - Genetics and Newborn Screening
