Each state has own approach

Newborn screening is heralded as a lifesaver for about 12,000 babies in the United States each year. And it is, but no one wants to talk about the kids whose conditions are missed.

Parents might never find out an overlooked genetic disorder is the reason their toddler can’t speak, stops growing or won’t follow the rules. It’s autism, some doctors conclude.

Parents can opt out of newborn screening for religious reasons, but nearly 98% of the 4 million babies born each year in the U.S. are tested shortly after birth. State public health laboratories screen for as many as 58 genetic disorders.

Each state aims to detect affected babies while not flagging too many “false positives.” Every baby flagged must be tracked down for diagnostic testing to determine if he or she really has a disorder. That costs time and money, so the parameters for a positive screening can’t be too broad.

Lab officials say they don’t want to worry new parents unnecessarily, or create a “cry wolf” scenario where doctors ignore alerts because too many babies are found not to have a disorder.

It’s a balance of time, money and science. But a Milwaukee Journal Sentinel investigation has found that the science is often ignored.

Testing varies significantly between states, some of which don’t follow scientific standards or common sense. The consequences can be devastating, yet changes in a lab are often made only after a child dies or suffers irreversible harm. When a child becomes brain damaged and faces a lifetime of expensive care, the lab usually can’t be sued to cover any costs. That falls to parents and taxpayers through Medicaid and other programs for children and adults with disabilities.

Mistakes in newborn screening can crop up anywhere in the process — blood could be collected incorrectly; a test might be botched or misread; samples may be sent late to state labs, as a 2013 Journal Sentinel investigation found.

But even when everything goes according to plan — and all procedures are followed — children still suffer because underlying policies are flawed.

In a hearing two months before the trial, Milwaukee County Circuit Judge John DiMotto met with attorneys from both sides on the fourth floor of the Milwaukee County Courthouse. Mel’s attorney had made a motion to keep out testimony from an expert aiding in the defense of Dr. Grunske. The expert planned to talk about the Wisconsin State Lab.

Both sides agreed results from the state lab were “confusing” and “not clear.” The expert for the defense had described the state lab’s policies and procedures as “distinctly unusual” in a deposition. A pediatrician and world-renowned metabolic expert for Mel’s side said he “would love to see them changed.”

“I see the state lab as being a red herring here,” the judge said. “This is not a case about the state lab. This is a case about how Dr. Grunske responded to the reports that she received.”

Mike De Sisti / Milwaukee Journal Sentinel Dr. Laurie Grunske on the first day of the trial. She was sued for malpractice.

Mike De Sisti / Milwaukee Journal Sentinel Dr. Laurie Grunske on the first day of the trial. She was sued for malpractice.

DiMotto ruled the defense’s expert could not testify. He reasoned that Debra Freedenberg, medical director of the Texas newborn screening program, had not given testimony in her deposition that the Wisconsin State Lab had breached a defined standard of care shared by public health labs throughout the country.

“She basically said, each lab, as long as they develop policies and procedures, they can do their own thing,” DiMotto said in his ruling that day. “So, perhaps, in the United States there are 50 different ways that states do this.”

In fact, there are. And that is a problem.

A child’s life-threatening condition might be caught in one state but missed in another because there’s little uniformity in the policies, procedures and cutoffs used to screen disorders. States often fail to consider factors known to affect the accuracy of results, such as age and birth weight.

Babies with borderline results are most at risk. Yet state labs typically only report whether results are normal or abnormal, so a pediatrician wouldn’t know if a baby was on the verge of being flagged for a serious disorder. That fact could matter years later when a child isn’t developing properly and doctors are searching for an explanation.

In each state, people with competing interests have a say in how newborn screening is done. Lawmakers, doctors, laboratory professionals and representatives from health departments, hospital associations and advisory groups all weigh in. Much of the disagreement focuses on costs; hospital associations generally fight increases even though screening is usually covered by insurance. Each baby's screening ranges from $30 to $160, depending on the state.

States say they can’t improve screening because they are constrained by costs, and lawmakers won’t approve more money to fund the state lab. In 2004, a lab manager in North Carolina warned that computers needed to be reprogrammed to correct a known flaw in methodology. Money wasn’t found for the programming; North Carolina kept doing its $45 test the same way. At least one baby suffered catastrophic brain damage as a result.

For years, a federal advisory committee has discussed trying to bring more uniformity to newborn screening. But little action has been taken to standardize the way screening is done despite known advances in science.

State governments are generally shielded from lawsuits under “sovereign immunity,” a principle from English common law meaning “the king can do no wrong.” The idea is that lawsuits could bankrupt the state and prevent it from providing services to the rest of the community. As a result, parents of injured children can’t recover money from the state to help care for their child’s lifelong disability, so they sue someone else — like a pediatrician, or others who may not be primarily at fault.

There’s no way to tell how many babies have been overlooked for a serious genetic disorder. A new national clearinghouse that collects data from state labs to monitor their performance doesn’t have any 2015 data tracking “missed cases” — one of eight quality indicators. Participation in the clearinghouse is voluntary, and states self-report data.

A few months after Mel Russell got sick, the newborn screening advisory committee in Wisconsin gathered for a regularly scheduled meeting.

It was January 2012. The group talked about Mel’s case and agreed they needed to review cutoffs for his disorder and similar conditions.

They delved into specifics at another meeting nine months later: When compared with other laboratories, Wisconsin had one of the highest cutoffs used to screen for Mel’s disorder. Two markers are used: one was “significantly higher” than other labs; the second was comparable to most other states. In other words, Mel’s condition could have been caught if he lived somewhere else.

Lab directors say setting cutoffs requires a balance of time and money. A high rate of false positives could overwhelm the lab — both in staff time and costs for follow-up. However, most states aren’t using advancements in technology that would reduce false positives, better detect disorders and possibly cut costs.

At the time of Mel’s birth, about six babies in Wisconsin each year received “definite abnormal” reports for his type of disorder. About two of those children actually had a metabolic disorder; the rest were false positives.

About 80 babies received “possible abnormal” reports like Mel did. In some years, none of those 80 would have a disorder; in other years, follow-up tests would determine one child was affected.

So the trade-off in Wisconsin each year was getting a second sample from about 90 babies, to avert death or brain damage for two or three of them.

After considering how Mel was missed, the committee agreed to lower the primary cutoff by 28%. Scientific developments also led to a change in methodology a few months later. Now when a baby is flagged for this type of disorder, the lab does a second, more specific test on the blood sample already at the lab. The approach accommodates the lower cutoff and reduces false positives reported to parents and doctors.

Upgrades to the lab’s procedures did cost money — about $110,000 a year, lab officials say, with an additional one-time expense of $25,000 for new equipment. Most of the cost was adding a staff member to do more specific tests for several disorders. Plus, there was a higher volume of babies to re-screen — about one or two each day, compared with one re-screen every four or five days with the old cutoff.

“The committee decided it was worth the workload and expense,” said Patrice Held, co-director of the lab’s newborn screening program. “There is definitely a cost and a reality behind it.”

Lost potential

“What is the price of being wrong?” That’s the question one of Mel’s lawyers posed to the jury on the last day of the trial.

$3 million. Mel’s lost earning capacity.

$7 million. The cost for him to live in a group home from 18 until he dies in old age.

$6 million. His care if he lives at home with his parents, and then with one of his two little sisters after their parents die.

Mike De Sisti / Milwaukee Journal Sentinel Chuck Hehmeyer represented Mel Russell.

Mike De Sisti / Milwaukee Journal Sentinel Chuck Hehmeyer represented Mel Russell.

Mel’s lawyer, Chuck Hehmeyer of Philadelphia, had spent much of the last two weeks making the case that the little boy would never lead a normal life.

At 6, Mel struggles to write with a pencil and put on his own shirt. He’s known to hit, spit, run out of the room and tear things up at school.

Hehmeyer stood behind a lectern as he addressed the jury.

“One of the issues we have not talked about much: pain and suffering and disability. He has no friends. How hard is it for a special needs child to grow up? How hard is that going to be for him? Do you think he’s going to fall in love and be married? Have kids? Will he have friends? Will he have a job like you do?”

Mel is much different from his younger sister Elise, who also has propionic acidemia. Elise was diagnosed at two weeks old and her parents have carefully managed her diet ever since. She is now a typically developing 5-year-old.

The perfect control. That’s what Hehmeyer called Elise. He argued that Mel would be just like her if his pediatrician had done things differently.

The newborn screening results weren’t Dr. Grunske’s only clue the baby was sick, Hehmeyer said. Soon after Mel stopped breastfeeding at 9 months, he started vomiting. Not normal baby spit-up, but projectile vomiting. Mel was constipated and listless. He wasn’t making eye contact as much — Did he have autism, his parents wondered?

Your browser does not support the video tag. Your browser does not support the video tag. Video Mel sits off to the side with an aide at his kindergarten graduation in June. The video was played in court.

He had been in the 90th percentile for weight soon after he was born. By six months, he’d dropped to the 50th. At one year, he was in the lowest tenth. Something was wrong.

Hehmeyer hadn’t sued the Wisconsin State Lab because he knew there was no point.

There are exceptions to sovereign immunity, but mistakes or an oversight at the state lab are not among them. A family in California had already made that argument and lost.

In 1998, the California Supreme Court ruled unanimously that the state could not be sued over flaws in its newborn screening program. Opening up the state to such liability would lead to no program at all, the court reasoned, and many more children would be hurt as a result.

The decision stemmed from an incident eight years earlier, when a lab contracted by the state failed to detect that Sierra Creason was missing her thyroid. The condition, congenital hypothyroidism, is easy to treat and one of the most common conditions for which babies are screened.

By the time doctors diagnosed Sierra at six months, the baby’s growth was stunted and she had suffered severe brain damage. She was blind, never walked and only learned to speak about 100 words. When she died in 2014 at age 23, she was the size of an 8-year-old.

“It was a brutal life,” her mother, Claudia Creason, said in an interview with the Journal Sentinel.

Sierra’s newborn screening test had showed a low level of thyroid hormone, which can be one indicator of the disorder, but not the one used in California at the time. The state’s testing protocol didn’t require low levels be reported to the doctor.

In addition to deciding that the state was immune from liability, the court ruled that it couldn’t be sued for choosing a particular testing policy.

A normal report

It is the policy of the Wisconsin State Lab to not round up test results. The lab director explained this to Mel’s mom in an email a year after her toddler suffered permanent brain damage.

Nicole Russell had been trying to figure out how Mel’s condition had been missed: Maybe a software glitch at the state lab?

“I do not believe that there was any malfunction of our software, nor was there any deviation from our reporting protocols,” Charles Brokopp, the lab director, wrote in the fall of 2012.

He explained that even though the computer had rounded up one of Mel’s six markers, a lab manager who reviewed the raw data realized it was technically below the 0.20 cutoff.

That one marker was why Dr. Grunske had received the “possible abnormal” report for Mel’s first test, instead of a “definite abnormal” report and referral to a specialist.

But the jury didn’t hear any of those details. The case was not about the state lab, Judge DiMotto had decided, so he would not allow a discussion in court about how the state lab did its work.

It was Dr. Grunske’s interpretation of Mel’s follow-up test that the jury heard about.

Mel was two weeks old when Dr. Grunske received the results at her office in New Berlin.

This is a repeat specimen collection of an initial positive finding. Test result (s): NORMAL.

Below that was something else: THE FOLLOWING RATIO REMAINS ELEVATED.

Mike De Sisti / Milwaukee Journal Sentinel Michael Johnson represented Dr. Laurie Grunske.

Mike De Sisti / Milwaukee Journal Sentinel Michael Johnson represented Dr. Laurie Grunske.

It listed something called a C3/C2 ratio, and noted Mel’s was higher than normal. In court, everyone agreed that a pediatrician would not be expected to know the significance of a C3/C2 ratio — which helps detect certain metabolic disorders — or even that it exists. That’s a specialist’s area.

But Hehmeyer argued that Dr. Grunske should have called an expert to find out what it meant.

Her defense team disagreed.

“When the state lab sends you a normal report, you don’t second-guess the state lab,” her attorney, Michael Johnson, said to the jury during his opening statement. “It’s a normal report.”

Johnson went on to explain how the state lab used different colored pieces of paper to alert a pediatrician when they needed to take action: Yellow for definite abnormal, blue for possible abnormal, white for normal.

Mel’s second result came on white paper.

“There is no dispute in this case: The state lab missed Mel Russell,” Johnson said. “Why is Dr. Grunske the only one sitting here?”

'Something's wrong with Jonathan'

Loree Oliver carries her son on her hip as she answers the door to her North Carolina home.

“Say hello, Jonathan.” The boy curls his head against her neck, peeks up and mumbles something. They live about 15 miles from Charlotte in a cream-colored house at a “T” in the road.

Inside, she puts Jonathan down on the living room carpet. He scoots past the coffee table on his stomach, using a halting Army crawl to move forward. He grunts and says a few things only his mom can understand.

Your browser does not support the video tag. Your browser does not support the video tag. Video Jonathan Page as an active toddler.

Jonathan turned 6 in September. His mom pulls up some videos on her phone: Jonathan, almost 2, running toward a giant gumball machine at the amusement park. Jonathan dancing in the backyard at a family reunion. Jonathan, soon after his second birthday, riding a tricycle up the sidewalk.

“That was my little dude,” she said. “Just ripping and running and doing everything.”

Now, he can’t walk by himself.

Jonathan’s fate can be traced to a day more than six years before he was born.

It was July 9, 2004, and members of North Carolina's newborn screening advisory committee were gathered for a regularly scheduled meeting. Susan Weavil told them the state lab had a serious problem.

Weavil worked at the lab as supervisor of tandem mass spectrometry. That’s technology that vaporizes compounds after they are extracted from a spot of blood, separates them, and estimates their concentration. Too much or too little of a compound can indicate a metabolic disorder.

Weavil laid out the problem: The state lab needed to factor in a baby’s age when setting cutoffs. Compounds in blood can fluctuate considerably in the first few weeks of life.

A baby’s blood sample is taken within a few days of birth. Babies who need a retest might be two weeks old or older when the second sample is collected. Using the same cutoff for a newborn and two-week-old baby could cause the lab to overlook the older baby’s disorder.

The committee had known about the problem and had put in a request to fix it. At the July meeting, members were told it hadn’t been fixed because the lab doesn’t control the computer programmers who work for the state.

That day, Joseph Muenzer, a geneticist and member of the committee, reiterated the need for change: The different cutoffs were especially important when screening older babies for a particular category of disorders where the body has a hard time breaking down amino acids and fats. The compounds measured for those disorders are known to drop soon after birth. The plan was to have Muenzer and others from the committee sit down with the state lab staff and hammer out a plan. But the change was never made.

When Jonathan Page was born in 2010, blood was collected from his heel and sent to the North Carolina State Lab for testing. Abnormal. Following standard protocol, it was tested a second time the next day. Again, abnormal.

The results suggested something could be wrong with certain enzymes in Jonathan’s body. If an enzyme doesn’t function properly, it can’t break down amino acids or fats, so they build up, turn into acid and poison the body.

Jonathan needed a retest from a new blood sample. By now, he was two weeks old. The baby seemed healthy, but his mom brought him to the doctor to have more blood collected. A week later his pediatrician received the follow-up report: Normal.

As he grew, Jonathan loved going to basketball games where his older sister, Cayla, was on the cheerleading squad. His mom was sure he’d play sports — even as a toddler he’d run around the living room with his football, counting off and hiking the ball.

About a week before Christmas, Jonathan wasn’t feeling well. Just over 2 now, he’d had the flu but seemed to be getting better. A cousin who was visiting got up early one morning to change his diaper.

“Something’s wrong with Jonathan!” she screamed.

Jonathan was lying on the bed, eyes staring straight ahead. He was breathing hard and wouldn’t move. They called 911.

Jonathan was taken to a nearby hospital, then transferred to Levine Children’s Hospital where he was put in intensive care. For five days he was in a coma. By day four, doctors told his mom what was wrong: Jonathan had a disorder called methylmalonic acidemia, also known as MMA. His body couldn’t break down certain proteins and fats.

If the disorder is caught early and treated with a special diet, a child can develop normally. But it was too late for Jonathan.

So much acid had built up in his body that he suffered a stroke, causing damage to both sides of his brain. He woke up from the coma on Christmas Eve.

“He was just like a newborn baby,” his mom said. “He couldn’t really move. He couldn’t sit up … couldn’t hold his head up.”

Jonathan was in the hospital for 55 days. He needed a feeding tube and started therapy: physical, occupational, speech.

He’s in kindergarten now but needs a full-time aide. He spends most of his time in a wheelchair. His movements are uncontrolled and lurching; he can’t write his name. Loud noises scare him. A recent haircut took nearly an hour because he needed to take a break every few minutes. He’ll never be able to live on his own. His lifelong care will cost millions. That’s just one reason his mom decided to sue.

“Nobody deserves to experience what my son experienced,” Oliver said. “My dreams for my son were shattered.”