(InvestigateTV) — Rare disorders and conditions are caught in more than 12,000 babies born every year because of newborn screening done across the United States. But despite the critical need, an InvestigateTV survey of screening programs nationwide found many are facing challenges due to a lack of funding.
The situation is so dire, some states have expressed concern they can’t keep up with the demand for life-saving testing without additional money, some of which has been held up at the federal level.
Lesa Brackbill, a Pennsylvania mother, is among the screening advocates calling for Congress to do more to fund existing newborn screening programs and expand them. Her path to advocacy echoes the tragedies experienced by many families who end up involved in lobbying for the testing that’s done on babies before they leave the hospital.
Her daughter, Victoria, was screened shortly after she was born in July 2014. Nothing significant was flagged in the heel prick test. But just five months later, her mother says it was clear something was wrong. Tori, as the family called her, stopped progressing. She seemed to be in constant pain and began clenching her fists, consistently crying.
“It was truly like a switch had flipped,” Brackbill said. “We loved her even more in a different way, a more fierce way, once we found out we weren’t going to have her for very long.”
The Brackbills received a diagnosis for Tori in early 2015, after noticing those significant changes. She had Krabbe Disease, a rare metabolic disorder that would end the baby’s life within a year.
Although the disease was not on Pennsylvania’s newborn screening panel when Tori was born, it was included in testing done just over the border in New York.
“If our daughter had been born just three hours north, we’d be living a different story,” Brackbill said.
Newborn screening disparities can be a death sentence
Families across the country are living similar, tragic stories because of newborn screening disparities. InvestigateTV previously reported on the differences found in testing from state to state, digging into a phenomenon advocates call “Death by ZIP code” because where babies live dictates what testing is done at birth.
Krabbe Disease is emblematic of the problem. According to the federal Health Resources and Services Administration, the condition is now included in screenings done in at least 10 states. But it’s not yet on a list of tests recommended by the federal government known as the RUSP or Recommended Uniform Screening Panel.
Brackbill has made it her mission to change that, in Tori’s honor.
“I couldn’t in good conscience let other parents suffer like we did,” Brackbill explained. “I knew that for me, advocacy is how I continue to be her mom.”
Right now, 37 core conditions are on the Recommended Uniform Screening Panel (RUSP), but InvestigateTV discovered not a single state in the U.S. tests for all of them.
Members of Congress have also taken notice of the disparities, vowing to make testing for all the RUSP core conditions uniform by 2025. Pediatrician and Congresswoman Dr. Kim Schrier, (D-WA) is among them.
“The test is easy. It’s cheap. The results are fast. Generally, you don’t catch anything. But when you do you’ve just made such a difference in a child’s life,” Schrier said.
Schrier and dozens of other lawmakers in both the House and Senate signed letters sent to leaders in Congress this spring, asking that funding for newborn screening be prioritized in this year’s appropriations bills. The letter sent by House lawmakers says, “Federal support and funding are essential to the success of our nation’s newborn screening programs.”
“Whether you get these newborn screens shouldn’t depend on what state you happen to live in,” Schrier told InvestigateTV. “And the reality is, you know, babies don’t get to choose where they’re born, and they all deserve the best care.”
Federal funding held up over debate about continued use of baby blood samples
States currently decide for themselves which newborn testing they’ll carry out. They also provide much of the funding for the work, with assistance from the federal government.
That money typically comes, in large part, from the Newborn Screening Saves Lives Reauthorization Act, which has previously funneled millions of federal dollars to state screening programs.
But the legislation has repeatedly been held up in recent years because of debate about research using baby blood samples, with screening advocates casting the blame on Sen. Rand Paul.
Paul, a Kentucky Republican, holds an influential seat on the Senate Health, Education, Labor and Pensions committee, which has overseen mark-up and initial approval of the re-authorization bill. But advocates say Paul has held up the legislation over concerns related to parental consent for newborn screening samples that are used in further research.
In many states, parents must opt out of allowing their children’s de-identified samples to be used in research. But organizations including the Everylife Foundation for Rare Diseases have previously battled with Paul over his desire to have parents specifically opt into programs that would further use the dried blood spots.
The debate, advocates say, is keeping a huge chunk of funding out of state hands.
“It’s incredibly frustrating to the advocacy community because so much is tied to that funding,” Brackbill said.
InvestigateTV began contacting Senator Paul’s office to request an interview more than three months ago. After ignoring more than a dozen emails and calls since February, Paul’s representatives finally acknowledged our request for comment last week following a personal visit to his office on Capitol Hill.
In a written statement, a spokesperson said Dr. Paul supports the reauthorization of newborn screening program funding, with informed consent protection for mothers and babies. He added many states don’t inform parents about how their baby’s DNA will be stored or used by the government.
“Informed consent is the cornerstone of patients’ rights and the ethical practice of medicine, so those who insist on reauthorizing the program without such protections should explain their reasoning,” the spokesperson said. “A meaningful informed consent provision will enable the program to continue identifying treatable diseases early in life, while also ensuring that parents have the information, they need to make the right choices for their babies.”
Advocates fear that changes to the current manner in which parents give consent to newborn screenings would overburden nurses and other hospital personnel.
Funding isn’t the only challenge for screening programs, nationwide survey finds
As the debate over consent continues behind closed doors, state programs say they’re feeling the pinch as more and more conditions are added to their screening panels. Funding provided by the federal government helps fill the gaps in state budgets and inside state labs that are already stretched thin as testing is expanded following additions to the RUSP or through state mandates.
InvestigateTV spent months contacting every state health department across the nation, asking about their biggest challenges when it comes to keeping up with those new additions. Forty-three states and the District of Columbia responded.
Almost half - 20 of 44 respondents - mentioned funding and staff shortages among their greatest hurdles. Difficulties in finding equipment, a lack of lab space, and quality control for testing were also frequent concerns cited by the health departments.
Some states provided striking responses regarding their concerns.
“If we continue to add new conditions without additional funding, we will stretch our current resources thin and compromise our ability to run the newborn screening program,” a spokesman for the Illinois Department of Public Health wrote to InvestigateTV.
Michigan’s health department said its screening program and others have an ongoing struggle to effectively recruit, train and maintain laboratory staff. Its representative said: “State government is often unable to compete with private laboratories that offer higher salaries or greater work schedule flexibility.”
A spokesperson for the Hawaii Department of Health pointed out that some states don’t have the specialists they need to test for newer conditions and wrote, “It is difficult to find time to do quality assurance for the newborn screening system when one has to constantly chase to add new disorders on the RUSP.”
Susan Tanksley, lab manager for the Texas Department of State Health Services, which handles newborn screening for that state, understands the challenges state programs are facing.
“I think that success is gained by the people that we have running the programs, so failing is not an option,” she said. “The babies we’re serving, the families we’re serving are incredibly important. So, we have to succeed.”
Copyright 2023 Gray Media Group, Inc. All rights reserved.