Krabbe disease is a rare but cruel affliction that can strike seemingly healthy babies who deteriorate rapidly over an average lifespan of two years.
For the last decade or so, doctors have performed bone marrow transplants to treat the disease. The transplant, which can be life-threatening in itself, offers a chance to restore the baby's blood with a crucial enzyme that is lacking because of the disease.
To slow the progression of the disease, the transplant has to happen before symptoms start.
That's why all babies should be screened for the disease at birth, advocates say. But some pediatricians and scientists say the infantile form of the disease is too rare (about 1 in 300,000 to 400,000 births) and the treatment too experimental to merit universal screening.
While a federal advisory committee recommends against testing for Krabbe, a few states including Missouri and Illinois have enacted laws adding the disease to their screening list.
Every state has a newborn screening program to test for dozens of disorders from cystic fibrosis to sickle cell disease. The screening fee per infant, typically covered by insurance, is $65 in Missouri and $88 in Illinois. More than half of the screenings are paid by the states for low-income families.
Childhood diseases traditionally have been added to newborn screening programs if they meet certain criteria — the disease is relatively common, the test is available and accurate, and there is a beneficial treatment with early intervention.
But as technology allows for more diseases to be diagnosed, some doctors believe the screening has gotten too far ahead of the medicine.
A 2009 law added five rare metabolic disorders to Missouri's list — Krabbe, Pompe, Gaucher, Fabry and Niemann-Pick. Health officials estimated the new tests would identify eight to 10 infants with the diseases and cost $1 million each year.
Missouri contracted with the North Carolina company Advanced Liquid Logic to provide the testing machinery, but the equipment has yet to be approved for use in mass screenings. Illinois, which passed a similar law in 2007, bailed out of its contract with the company and is buying its own equipment.
Family advocates have criticized Missouri's slow implementation of the law, known as the Brady Cunningham act. Brady died of Krabbe in 2009 when he was 11 months old. Becky Ruth, Brady's grandmother, said she toured the state labs last spring and was unaware they would not be ready to test for the diseases by July as scheduled.
"We don't pass laws for them to just simply be ignored, especially by our state departments," said Ruth, who is running for state representative from Festus. "These are the lives of children that we're talking about."
LACK OF EQUIPMENT
In August, Missouri started shipping infants' blood samples several times a week to New York, the only state currently testing for Krabbe. New York charges an additional $3.11 for every Krabbe test, expected to total $250,000 for Missouri's 80,000 annual births. Missouri health officials said they still plan to test in-house for all five diseases in Brady's law, plus two more, once the technology is ready.
In Illinois, where several million dollars have been spent on new equipment and training, testing is expected to start next year. Yet state officials and medical ethicists have questioned whether the additional screenings are appropriate.
"We were anticipating we may see one or two (cases) a year, if that," said Tom Schafer, director of health promotion at the Illinois Department of Public Health. "The problem as much as anything is what kind of treatment is there for that child?"
Adding Krabbe disease to universal screening is ethically questionable because of the uncertainties, and amounts to enrolling infants in a massive science experiment, said Dr. Lainie Friedman Ross, a pediatrician and associate director of the MacLean Center for Clinical Medical Ethics at the University of Chicago.
"The way it's being introduced against the medical evidence, without considering all the stakeholder voices, and without consent ... is problematic," Ross said. "We're doing research on these kids without parental permission."
Ross said she is troubled that the test identifies children who are at risk for Krabbe but may not develop the disease. And for children who develop early symptoms, there isn't much research to guide the decision on a bone marrow transplant.
"It's a drastic procedure, and we don't actually know whether the benefits outweigh the harms," she said.
Another disease that was added to the screening panel in Missouri and Illinois, Niemann-Pick, has no treatment.
"When you screen populations for a large number of conditions, occasionally you'll find conditions that you might not know that much about," said Dr. Kathy Grange, a clinical geneticist at St. Louis Children's Hospital who advises the state on newborn screenings. "We're just beginning to figure out how to screen for (these rare) diseases and how to deal with the results."
AN OPTION TO INTERVENE
New York started testing babies for Krabbe disease in 2006 following a push from Jim Kelly, former quarterback of the Buffalo Bills whose son Hunter died of the disease.
In the program's first three years, 770,000 infants were tested and two were diagnosed with early-onset Krabbe disease. Both infants received bone marrow transplants in their first month of life, and one died during treatment. The risk of death from the transplant is 10 percent to 15 percent.
Doctors at Duke University have performed bone marrow transplants on about 16 newborns diagnosed with Krabbe disease.
"If you can treat children before they have symptoms, really in the first month of life, one-third of kids can be normal, another one-third can walk with a walker and the last one-third is a group of kids who don't walk and have a lot of motor disease," said Dr. Joanne Kurtzberg of Duke. "All the children treated have normal intelligence. They can read, write and go to school."
The oldest survivors are now teenagers, so the long-term effects of the treatment have not been studied.
Kurtzberg said she favors universal screening despite the imperfections of the testing and treatment.
"With screening you at least have the option to intervene," Kurtzberg said. "Parents who have already experienced the loss of a child to that illness have no second thoughts about treating another child in the family."
Bryan and Carol Cross of St. John advocated for Krabbe screenings after two of their three children were born with the disease. Their oldest, Joshua, was diagnosed when he was 8 months old and died in 1995 at age 2. Their daughter, Laura, was diagnosed before she was born and received a bone marrow transplant at Cardinal Glennon Children's Medical Center when she was 19 days old.
Laura, 13, walked until she was 3 and now uses a wheelchair. She is smart, funny and loves to read and play soccer, Carol Cross said.
Families affected by Krabbe often refer to the 'sacrifice of the first-born," Cross said.
"My son never got the chance at life because there was no testing," she said. "The more that we know, the more we can help them have a healthy, long, successful life. My daughter is thriving and happy and a beautiful part of our family."