The pregnancy had gone smoothly, so it wasn’t surprising when the baby boy was born healthy with soft pink skin and a head full of dark hair.
His weight was normal, and he was thriving.
When Jase Dershem left the hospital two days later with a slightly lowered birth weight and a touch of jaundice — something commonly seen in newborns — his mother wasn’t too worried. The baby was set under a fluorescent light to treat the condition.
But three days later Jase had gotten even smaller and his jaundice was worse.
By his sixth day of life, Jase’s tiny body had turned gray, his blue eyes yellowed and his liver and kidneys had begun to fail. He was dehydrated, lethargic and his weight had plummeted even further.
Jase has a rare metabolic disease. Blood samples taken from when he was 24-hours-old to screen for disorders could have caught the disease sooner.
But they sat waiting at the hospital for days waiting to be sent to a state lab.
And because the service that delivered the samples to the lab to be screened ran only on weekdays and the lab itself was closed on weekends, no one knew why Jase was sick. He was hours from death.
Under a state law that went into effect in 2005, the Oklahoma State Department of Health sets guidelines for the newborn screening program that requires hospitals to send their samples to the state lab within 48 hours of collection.
The Frontier analyzed Oklahoma State Health Department data from more than 50 hospitals that provided birthing services in 2015, 2016 and a portion of 2017.
In 2016, nearly 50,000 babies born in Oklahoma were screened. About 9,000 — or 18 percent — of those tests didn’t reach the state lab within the Health Department’s 48-hour window. Two thousand of those babies’ tests didn’t reach the agency for four days or more.
Of the 55 hospitals that submitted newborn screening data that year, 20 met the mark less than 70 percent of the time.
Jase, who was born in 2010, has galactosemia and is missing the enzyme that breaks down galactose and lactose, the sugar in dairy products.
“That’s what your breastmilk is,” his mother, Jessy Dershem said. “He was literally starved for six days, and everything I was giving him was toxic to his body.
“Newborn screening — I love and hate it. It saved his life. If he didn’t have it he wouldn’t have made it. But if it was improved, he wouldn’t have accumulated as much damage as he did in his first week of life.”
Dr. Dwight Sublett, vice president of the Oklahoma chapter of the American Academy of Pediatrics and a working pediatrician in Stillwater, said having the newborn screening results as promptly as possible is ideal.
The tests can identify disorders such as thyroid and metabolic diseases, as well as cystic fibrosis.
“A lot of them are somewhat time sensitive as far as getting the child on proper treatment during the first two days of life,” Sublett said.
‘It can get critical very, very quickly’
In 2015, 2016 and a part of 2017, several hospitals fell far below the state’s standards, meeting the state’s requirement for less than half of newborns. Some hospitals left samples waiting for 10 days or more before sending them to the state lab to be tested, according to a data analysis by The Frontier.
Some hospitals collected the samples from newborns incorrectly, as often as 25 percent of the time, resulting in the need to collect new specimens and delaying results.
During the first few days of a baby’s life, almost every child gets a test called a newborn screening or “the heel stick.” A health-care provider pricks the newborn’s heel, collects a few drops of blood onto a card and sends it to a state lab to test for dozens of rare conditions that are hidden at birth but can cause death, disability or serious health problems if not treated quickly.
Each year, 100 to 120 babies in Oklahoma are identified, said Lisa Caton, director of screening and special services for the Oklahoma State Health Department.
“So in Oklahoma, what we look at for every sample that’s collected that comes into the lab, is testing that for 54 hidden disorders and conditions children might have,” Caton said. “They might appear healthy and thriving depending on the condition. If they do have one of those conditions, it can get critical very, very quickly.”
In the first quarter of 2017, Eastar Health System in Muskogee, with the lowest compliance rate, delivered their newborn tests within the 48 hours only 25 percent of the time. Saint Francis, which bought the hospital in April, said they couldn’t comment on the low numbers.
“However, I can report that since becoming Saint Francis Hospital Muskogee the facility has seen a steady increase in the percent of newborn screenings being sent to the state within the 48-hour timeframe,” Lauren Landwerlin, a Saint Francis spokeswoman, said in an email.
“We fully expect that these numbers will continue to increase month over month as this program is now following a more formalized process for their submissions to the state.”
In May, the hospital sent 48 percent of its samples within the window.
In 2016, Hillcrest Hospital South in Tulsa took more than five days to submit samples for 50 newborns that year.
The hospital made the 48-hour benchmark 55 percent of the time in 2016. A Hillcrest hospital in Cushing met the requirement only 46 percent of the time. Hillcrest Medical Center in Tulsa was compliant 79 percent of the time that year.
Karna Williams, administrative director of laboratory services at Hillcrest Medical Center, said the courier service that delivers specimens to the state lab picks up only once a day, which makes it challenging to meet the 48-hour requirement.
“If a specimen misses that pickup (for example, due to the specimen not being dry) that automatically adds a day to the delivery time,” Williams said in an email. “On holidays there is no courier service but the same 48-hour delivery standard applies.”
So what happens when hospitals don’t meet the 48-hour requirement?
“Well, nothing. There is no penalty for the hospital,” Caton said. “It’s just looking at maybe the specimen didn’t make it and going back and looking at the process.”
State lab closed on weekends, holidays cause delays
Jase was born on a Wednesday in August 2010. The next day a health-care provider took a few drops of blood from his heel for screening. The samples sat over the weekend while the state’s lab was closed.
“Then it was late Monday until it was read and the doctors were notified,” Dershem said. “We lost two days on the weekend. That really hurt us.
“Babies don’t care if it’s the weekend or not. They’re going to be born, and that disease is still going to affect them.”
The Oklahoma State Department of Health laboratory that receives the specimens for testing is closed on weekends and holidays, which can further the delay for reporting of screening results.
On Dec. 18, 2014, then-President Barack Obama signed into law the Newborn Screening Saves Lives Reauthorization Act, which aimed to improve timeliness and tracking measures so newborns with treatable genetic disorders could be treated quickly.
The act was in response to a 2013 Milwaukee Journal Sentinel investigation that found newborn screening delays in hospitals across the U.S. were putting babies at risk of disability and death.
In a United States Government Accountability Office report issued in December, the office found most states reporting newborn screening timeliness data had not screened newborns within the recommended times.
The Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children recommended timeframe goals for states in 2015, such as reporting newborn screening results within five days of birth for babies with time-critical conditions and sending samples to the state lab within 24 hours of collection.
The advisory committee’s recommended benchmarks for timeliness also included newborn screening specimens being collected with 48 hours after birth and that all results should be reported within seven days of birth.
The report acknowledges states have made improvements, but still are far from meeting the benchmarks.
“Our analysis indicates that substantial work remains for the majority of states to achieve the recommended benchmark by 2017, based on the latest available information,” the report states.
Oklahoma was not included in the study because the Health Department’s newborn screening program was not set up to monitor the process at the time, Caton said.
In February through May of this year, the state’s Public Health Laboratory reported out newborn screening results within seven days of life for at least 95 percent of newborns.
“They’re (the Health Department) extremely good at contacting us,” Sublett said. “These are very valuable tests because if you can catch the disease at an early age and you can put them on an appropriate diet or put them on thyroid hormone supplement … It makes all the difference for the child.
“I can say confidently the Health Department has done a very good job of that. They’re extremely good at following through.”
The only month in 2017 the Health Department didn’t meet the benchmark for reporting results within seven days of life was January, when the Health Department met the goal for 87 percent of newborn screenings.
The department was closed for a couple of days that month because of holidays and inclement weather, Caton said.
Dr. Samuel Dunn, director of the Health Department’s Public Health Laboratory, said historically, all sections of the laboratory have operated on a five-day schedule, although some staff are on call 24/7 for emergency and disease outbreak situations.
“Currently, newborn screening specimens that are delivered to the laboratory on Saturday and Sunday do not get screened until Monday,” Dunn said in an email. “If the laboratory was able to perform (newborn screening) testing on weekends, these specimens would be reported in a shorter timeframe.
“There are significant challenges in providing adequate staffing to be able to offer (newborn screening) testing for either six days or seven days per week; however, we are examining ways in which this might be achieved with current or added resources.”
Dunn said newborn screening labs across the U.S. have made the transition to six-day or seven-day weeks.
“We are hopeful that we can make a similar transition in the very near future,” he said.
During newborn screening, Oklahoma screens for 31 of the 34 conditions recommended by the advisory committee’s Recommended Uniform Screening Panel (RUSP).
Earlier this year, a bill authorized almost $59 million in bonds for the construction of a new state Health Department laboratory.
Initial planning for the facility is underway and is construction is expected to be completed within a few years, Dunn said.
“It is unlikely that the new lab will have a significant impact on the timeliness of delivery of (newborn screening) specimens to the Public Health Laboratory or time to report test results,” Dunn said. “However, the new, larger facility will likely bring better efficiencies in testing processes and allow us to consider adoption of other (newborn screening) tests that are currently part of the RUSP.
“Space restrictions in the current location severely hamper consideration of additional equipment that would be needed for some of these new tests.”
Hospitals with birthing centers improved with the 48-hour requirement over the past two-and-a-half years, increasing the compliance rate from 67 percent in 2015 to 82 percent in 2016.
For the first quarter of 2017, 82 percent of all newborn blood samples were sent for testing within a 48-hour period, the Health Department data shows.
“I think I would like to add that we’ve had a lot of hospital participation across the state, tuning in and asking questions, and they’ve made improvements and strides,” Caton said. “Kudos to them.”
Still a battle
Jase starts first grade this fall. He eats a restricted diet and is in occupational, physical and speech therapy.
Each first Saturday in June, Jase’s family organizes an event, “Race4Jase,” that raises money to finance a drug that could stop the body from producing galactose.
Jase’s doctors tell Dershem early intervention is key.
“The more build up of galactose he gets in his body, the more he needs those,” Dershem said. “ When he gets older he will start having tremors, start having delays. His body is constantly doing therapy and having to combat the damages.
“We gave him a week break for the holiday, and he’s already backslided. It’s a constant fight basically.”
A couple of years after Dershem had Jase, she became pregnant again and worried her daughter would be born with the disease. Dershem and her husband are carriers, giving their children a 25 percent of having galactosemia.
They hoped to get their daughter’s newborn screening results as soon as possible.
“We tracked her blood tests, but hers still took six days as well, even knowing she’s at high risk,” Dershem said. “I had to treat her as if she had it. I started her on a soy diet.”
Dershem’s daughter wasn’t born with the disease, but she is a carrier.
There is no cure or treatment for galactosemia. Because everyone’s body produces galactose, Jase’s body accumulates damage.
Dershem has recently helped teach webinars to health-care providers with the assistance of the Health Department and Oklahoma Hospital Association. Though she acknowledges Oklahoma has made progress, she believes the state has a long way to go.
“(Jase is) doing well today, but he still battles today,” Dershem said. “Newborn screening saved his life, but the earlier you can get this test back the better off your kid is going to be.”