Arizona adds heart defects to newborn screening panel

• Arizona babies will be tested for one more life-threatening condition at birth, under a new law.
• The Arizona Department of Health Services will consider adding two diseases to the screening panel.
• Newborn screening helps detect rare diseases that, if caught early, can be treated or managed.

Arizona babies will be tested for at least one more life-threatening condition under new legislation that expands the state's newborn screening panel for the first time in nearly a decade.

Gov. Jan Brewer signed the legislation into law last week, and the new requirement goes into effect early this fall.

All Arizona hospitals will be required to measure newborns' blood-oxygen levels and report the results to the state Department of Health Services. Low oxygen levels can indicate a dangerous heart malformation, and early detection can help prevent debilitating or fatal illnesses.

Most hospitals already screen babies at birth for critical congenital heart defects, or CCHDs, using a non-invasive device that measures oxygen levels. The device, called a pulse oximeter, is also clipped like a clothespin onto adult patients' fingertips to measure blood-oxygen level and pulse.

"This potentially saves 80,000 babies' lives each year," said House Health Committee Chairwoman Heather Carter, R-Cave Creek, who sponsored House Bill 2491. "Now that they will be screened for these congenital heart defects, this is a big step in the right direction for Arizona to save newborn lives."

The new law also allows the state health director to evaluate whether to add testing for severe combined immunodeficiency, or SCID, and Krabbe disease, after cost-benefit analyses and input from health-care providers.

The addition of CCHDs to the state's screening panel takes Arizona a step closer to adopting the minimum threshold of federally recommended testing for newborns. SCID testing is the only test Arizona has not adopted from the U.S. Department of Health and Human Services' recommended core list.

The newborn-screening program is run by the state. The number of conditions tested by other states varies — a point of contention among newborn-screening advocates, who are pushing for uniform testing across the country. They argue that babies should not live or die based on the state in which they are born.

Carter said it is important for the state to evaluate potential new screenings as technology develops, and as new diseases become known.

"What's so unbelievable (is) that it took us 10 years just to get to this point. Hopefully, it won't take us another 10 years to add additional screenings that could save lives," Carter said. "I look forward to continuing to make sure that we move toward the complete federal recommended panel for newborn screenings."

The diseases that are tested for within 24 to 48 hours of birth are rare but can be severe or deadly if not caught early. Families can end up spending tens of thousands of dollars in what is described as a "diagnostic odyssey," hoping to figure out just what's wrong with their babies. By the time they find out, it may be too late.

Screenings of newborns are designed to help doctors treat those diseases before they become debilitating or deadly.

The state health department will move quickly to add CCHD testing and reporting requirements to the newborn-screening panel, said ADHS Director Will Humble.

"The screening is pretty much happening throughout the state. Where the disconnect is sometimes happening is on the reporting side," Humble said. "It'll help us close that feedback loop with the reporting so we can make sure that pediatricians are aware of the issue more quickly, so that they're in a better position to do quality medical management in a timely way."

William Mueller's first visit to the pediatrician was at 19 days old. The doctor heard something that didn't sound right and sent him to a cardiologist, who found he was born with five heart defects.

He had lifesaving surgery at 3 months old.

William is now 9. He plays sports and practices piano. He testified before House and Senate committees, urging legislators to add CCHDs to the newborn-screening panel.

"I'm lucky," he said, standing on a stool to reach the microphone. "Not all kids are as lucky."

His mother, Nicole Olmstead, now government-relations director for the American Heart Association of Arizona, said she was thrilled Brewer signed the bill.

"From now on, Arizona parents will know that their newborns had been screened for potentially deadly heart defects," Olmstead said.

The heart association and March of Dimes Arizonalobbied for the bill, along with families of babies who suffered from the three conditions listed in HB 2491. Carter said the work of advocacy groups was crucial, and testimony from families helped put faces on the issues.

Now, ADHS must do cost-benefit analyses and hold stakeholder meetings to help decide whether to add SCID and Krabbe disease to the panel. Priority diseases added to the newborn-screening panel are those that have a reliable test that is cost-effective, and those for which early intervention can lead to treatment and management. The two diseases being considered will be weighed against those criteria, Humble said.

SCID is treatable. If left untreated, it can lead to repeated infections or death. But testing for SCID requires new equipment and technology at the state lab, and can be expensive.

Under the new law, the state health director now can designate labs other than the state's own to test for conditions added to the screening panel. It gives the state an option to explore labs that are privately owned or run by other states if it would cost less than to process the sample at the Arizona state lab.

There is no known cure forKrabbe disease, a rare degenerative disorder that eventually paralyzes all muscle motion. There is debate across the country over the effectiveness of screening for that reason. However, bone-marrow transplants can slow its symptoms.

If Arizona begins testing for Krabbe disease, it would be one of just a handful of states that do so. Krabbe is not on the federal core list of recommended diseases to test for.

The new law also establishes within ADHS an advisory committee on vaccine financing and availability. The committee is required to submit recommendations regarding vaccines for newborns, children and adolescents to the Governor's Office and the Legislature by Dec. 15, 2015.