‘YOU WONDER HOW MANY BABIES HAVE BEEN MISSED’
Arizona requires newborn screening for 29 diseases and conditions, far fewer than many other states. Two new proposals may change that.
Reesa Stutzman laughed and ate like a healthy baby until she was 7 months old, when she stopped eating, parts of her body became rigid, and she cried non-stop in agony.
Doctors diagnosed her with Krabbe disease, a rare degenerative disorder of the nervous system that eventually paralyzes all muscle motion. By the time it was diagnosed, the disease had progressed too far for a bone-marrow transplant that might have slowed the onset of Reesa’s symptoms. Children with Krabbe do not usually live past age 2 without a transplant.
Now, at 21⁄2 years old, the child with baby-blue eyes, pursed lips and porcelain skin has no voluntary movement. She is losing her vision. She coos and sighs instead of talking or laughing. Her parents use a suction machine to drain the saliva from her mouth every five to 10 minutes because she can’t swallow.
The debilitating disease has no known cure, though doctors can screen for it. But unlike a handful of other states, Arizona does not require newborns to be screened for Krabbe disease as part of its newborn-screening test.
Krabbe is one of the conditions that could be added to Arizona’s newborn-screening panel this year in the program’s first proposed expansion since 2005. The effort would bring Arizona’s screening program more into line with strictly voluntary federal guidelines.
Newborn screening can detect an array of rare conditions that, once identified in an infant, can be treated immediately, rather than after the problem has manifested itself.
“When she was diagnosed, they said, ‘Reesa has Krabbe. There’s nothing we can do,’ ” said Jamie Stutzman, Reesa’s mother. “And then we found out we could have done something if there was screening here. If she was born in New York, she can be OK. That was just heartbreaking.”
Two measures have been introduced this year in the Arizona Legislature that aim to add testing for three more conditions to the state’s newbornscreening panel.
A screening test is done primarily through a blood sample from a prick on every infant’s heel within 24 to 48 hours of birth. Samples are processed at the state lab. The diseases tested for are rare, but they can be severe, even deadly, if not diagnosed quickly.
Arizona’s screening now tests for 29 diseases or conditions, including hearing loss. That number places Arizona in the bottom third of states.
As of 2011, at least 15 states tested for more than 50 conditions, according to the Save Babies Through Screening Foundation, a national non-profit that advocates for newborn screening.
The debate over expanding Arizona’s screening panel comes down to what kind of benefit is achieved compared with the cost of conducting more tests for rare diseases, said Will Humble, director of the Arizona Department of Health Services.
“There’s no getting around it. In public health — and medicine, honestly — when you talk about extremely rare disorders like these, you’re really bumping public health and science up against ethics and economics,” Humble said.
State health officials and the Newborn Screening Advisory Committee must consider several factors that affect potential screening expansion: How rare is the disease? Is there effective treatment available for diseases that are caught early? How much does testing cost hospitals, the state Medicaid program and the state lab? Will the potential for false positives unnecessarily panic families?
Humble said he is open to adding disorders to the testing list, but he added that there must be consensus among everyone involved in the screening program — including the payers.
“The other states that you see are testing for additional, very rare disorders. That’s one of the things we have to look at: At what point do we say, ‘I think we’re investing at the right level in terms of getting the right kind of return’?” Humble said.
House Bill 2491 aims to add testing for critical congenital heart disease, or CCHD, and for severe combined immunodeficiency, or SCID, which is relatively common among some Native American populations. If both were added, Arizona would meet the minimum threshold of federally recommended conditions for newborn testing.
“You have a situation where the baby’s health is determined by where they’re born, and that should not be,” said Jill LevyFisch, president of the Save Babies Through Screening Foundation. “I’m glad to hear Arizona’s moving forward. It’s about time. And you wonder how many babies have been missed.”
Diseases caught through newborn screening are considered less costly to treat if diagnosed early. Doctors are able to treat them before they become debilitating or deadly. Early detection helps families avoid accruing hundreds of thousands of dollars in medical and insurance bills.
Hailey Wilson was born in 2004 with a full head of dark hair that made passers-by in the hospital turn their heads. She seemed to be a normal, healthy little baby. But when she was a month and a half old, Hailey began throwing up excessively, the first sign something was wrong.
When Hailey’s symptoms did not improve, her parents took her to the hospital. A chest X-ray showed her heart was severely enlarged, filling her entire chest cavity. Less than an hour after the Wilsons got the X-ray results, Hailey’s heart gave out.
“We went with this baby in our arms, thinking, ‘Oh, we’ll just go to the clinic, have her checked out,’ ” said Demaree Wilson, Hailey’s mother. “Just a few hours later, we came home with empty arms.”
The autopsy showed Hailey had a heart defect that was not detected when she was born.
HB 2491 would require the director of the Arizona Department of Health Services to adopt rules to add CCHD screening to the newbornscreening program, requiring hospitals to perform the test and report it to the state. This is not expected to cost the state any money, because most hospitals already have the equipment used to test for CCHD.
Both CCHD and SCID are on the list of core conditions recommended for testing by the U.S. Department of Health and Human Services.
For the heart defects, doctors measure the level of oxygen in a child’s blood. Low oxygen levels could indicate a dangerous heart malformation. Early detection could help prevent debilitating or fatal illnesses, and doctors can perform necessary procedures or surgery before the condition becomes severe, said Dr. Kirk Aleck, chief of genetics at Phoenix Children’s Hospital.
“When these kids have these sorts of heart defects and go into heart failure, they can become very, very ill very quickly and die,” Aleck said.
Immune deficiency
HB 2491, sponsored by Rep. Heather Carter, R-Cave Creek and chairwoman of the House Health Committee, also allows — but does not require — ADHS to adopt rules to add testing for SCID after input from hospitals, and to do a costbenefit analysis to determine the effectiveness of adding the disease to Arizona’s screening panel.
The condition is caused by a group of genetic disorders linked to poor immune systems. If untreated, they could lead to a lifetime of repeated infections and even death. Babies with the immune disorders do not show symptoms of disease until they become seriously ill with severe or fatal infections.
The disorders are relatively common among Apache and Navajo populations. Up to one in 2,000 babies in those populations could be diagnosed, compared with one in 300,000 in the general population.
Since 2006, babies born on the Navajo Reservation have been tested for the disorder. But one-third of Native American babies are born in surrounding cities, not on the reservation, said Dr. Diana Hu, an Indian Health Service maternal child-health consultant for Navajo areas.
Testing for SCID requires new equipment and technology at the state lab. The bill would allow the ADHS director to contain costs on SCID tests by allowing samples to be sent to commercial or out-of-state labs. State statutes now require ADHS to conduct all newborn-screening programs at the state lab.
The Legislature would need to find and approve a funding source to test for this disorder, and for Krabbe disease, if both were approved.
There are other costs to take into consideration, Aleck said, such as long-term-care costs for children who would need treatment if their disorders were not detected early. Bonemarrow transplants, which are treatment options for Krabbe
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and immune-system deficiencies in these children, are much less expensive than multiple hospital visits, he said.
Krabbe disease
There are at least three families affected by Krabbe disease in the Valley. One of them is the Gerlitzes, whose daughter, Parker, died at 16 months old.
Parker was 10 months old when she caught the flu. She had diarrhea and vomited for two weeks. Then her body became stiff, and she was not able to move her lower extremities. Eventually, she became blind and paralyzed. She could not eat, crawl or smile. Jennifer Gerlitz, Parker’s mother, said the family spent nearly $500,000 just to find out her diagnosis: Krabbe disease.
“I don’t want mylittle girl to have died for no reason,” Gerlitz said. “If we could save even just one more little baby from this, it’s worth it.”
House Bill 2388 would add Krabbe disease to the state’s newborn-screening statute. The legislation’s provisions could potentially allow testing for five other lysosomal-storage disorders like Krabbe, said Rep. Michelle Ugenti, RScottsdale, who sponsored the bill.
Though her bill did not get a hearing, Ugenti is optimistic its provisions will be amended onto HB2491as that legislation moves through the process.
Krabbe disease does not have a cure, but a bone-marrow transplant before symptoms appear can slow its progression. Krabbe is not on the federal list of recommended tests because there is no identified cure. Families affected by Krabbe are advocating for legislation, and five states have passed laws to add Krabbe to their newborn-screening tests.
There is debate over the effectiveness of newborn screening for Krabbe disease, because there is not yet a significant health advantage shown between early detection and treatment.
The federal list of core diseases is just a recommendation, and its exclusion of Krabbe does not mean the disease should not be tested for, said Anna Grantham, manager of advocacy and education awareness at Buffalo, N.Y.-based Hunter’s Hope Foundation. The foundation raises awareness on Krabbe disease and other similar disorders caused by degeneration of white matter in the brain.
Once a child shows symptoms, Grantham said, it is too late to benefit from the only available treatment, a bone-marrow transplant. There are children with Krabbe in elementary school living relatively normal, healthy lives following bone-marrow transplants, she said.
One advantage of adding Krabbe to the test would be that parents would find out whether they have a 1-in-4 chance of having a baby with the disease, and knowing that might prevent future trag- edies, Aleck said. But he said it is not yet clear how much newborn testing would help children with Krabbe disease.
Carter has told the Stutzmans she is looking for a way to consolidate both bills related to newborn screening. She has indicated she will work with the family on the issue. Ugenti said she plans to work with ADHS on a cost-benefit analysis for Krabbe disease, and to find an appropriate way to balance public interests, the rarity of the disease and the cost of testing.
But for families struggling to cope with the inevitable, there is no question whether more babies should be tested for the disease.
“There are risks associated with it, sure, but nothing is 100 percent,” said Sean Stutzman, Reesa’s father. “But if it saves one child — and it would save many, many more — how could it not be worth it? If it was your child that was the one being saved, I think you would probably sing a different tune.”