KARE 11 Investigates: Is infant testing leaving children at risk?
The case of a Minnesota boy is sparking questions about how newborns are being screened for genetic disorders nationwide.
Records obtained by KARE 11 confirm that the baby had a genetic condition that could have been identified, and controlled, by routine newborn testing.
But his condition was missed.
He is three years old now, but Leo Carleton-McMahon still struggles to speak.
Leo’s parents say it didn’t have to be this way – If only tests done on newborns has been better.
“He should have been doing great,” says Stephanie, his mother.
When Leo was born, things seemed perfect. “They handed him to Josh, and Leo was happy,” Stephanie remembers. “It was like that was his dad. And he stopped crying immediately.”
It was their first child, a baby boy with an infectious smile.
“My sister would always tell me how lucky we are, because we had the easiest baby in the world because he was just so happy about everything,” Stephanie said.
The day Leo’s world changed
When Leo was about 17-months old, his world changed.
“I heard him crying in the middle of the night, which was unusual for him,” Josh remembers. “And he vomited in his bed.”
His parents took him to the doctor. At first he was just diagnosed with a virus. But later that day, Leo took a sudden turn for the worse.
“He was just laying back and his lips were blue. And I was just like, ‘Oh my god,’” his mother remembered.
They rushed him to the emergency room. Soon, Leo was in pediatric intensive care, but no one knew what was wrong.
“He was on dialysis, he was put on a respirator, on a ventilator,” Josh said.
As doctors struggled to solve the medical mystery, Leo suffered a devastating stroke damaging his brain.
“They said they didn’t know if he was going to get better. They told us that he’d need 24-hour care,” Stephanie remembers doctors telling them. “He might not walk. He might not – all these things.”
Discovering the cause
Today Leo is still battling back in therapy sessions aimed at strengthening his muscles and improving coordination. He’s re-learning things he used to do as a baby.
“He had to learn how to roll over. He learned how to swallow again. He had to practice using his fingers,” Stephanie said. “Basically he couldn’t even crawl,” Josh added.
Experts say all of this could have been prevented.
Turns out, Leo had a rare genetic disorder that prevents him from breaking down certain proteins and fats, allowing too much acid to build up in his blood.
“They confirmed in this test that it was Methylmalonic Acidemia,” Josh said. It’s known as MMA.
If it would have been detected earlier, Leo’s condition could have been managed with medicine and a special diet. He could have been just as active as his little sister.
So why wasn’t it caught?
Genetic problems like MMA can be identified by testing a few drops of baby’s blood, something required for all newborns in Minnesota.
But records show that on one key marker for MMA, Leo tested at 0.38, barely below the cut-off that would have required more testing.
“It was super close,” Stephanie says she learned much later. But since it was below the cut-off, the test result didn’t trigger red flags.
“And so the doctors received the cover page of negatives. It said that he was fine,” Stephanie said.
That’s what angers Leo’s family.
Minnesota had changed the testing contract
Leo’s parents discovered that if their little boy had been born a year earlier, there would have been additional analysis. It would have been done by the Mayo Clinic where researchers use a sophisticated computer program to compare a baby’s test results with known cases of MMA worldwide.
Records show that if Leo’s blood had been analyzed at Mayo, it likely would have raised red flags.
“So, what that means is he would have caught and treated when he was born,” his mother says.
So why wasn’t that analysis done when Leo was born?
The Minnesota Department of Public Health told KARE 11 that in January, 2014, about 4-months before Leo was born, the state stopped using the Mayo Clinic and awarded the contract to do the blood testing to a different company.
State officials say money wasn’t the only factor, but they saved $10 per test. As a result of the decision, Minnesota lost access to Mayo’s state-of-the art computer program.
Leo’s parents think dropping Mayo Clinic was a mistake. “They were doing it fine for 10 years. That people were looking to them for guidance for how to do it. And then they decided not to use them,” Stephanie said.
Because Leo’s condition wasn’t caught when he was born, today much of his food comes through a tube connected directly to his stomach. There’s a regimen of medicines and daily shots. And, of course, on-going therapy.
Calling for change
Leo’s parents say what happened to him should be a call for action.
“People who are pregnant right now would realize that this is actually a huge deal,” Stephanie said.
As it stands now, different states test for different conditions. And they use different cut-off values.
A federal advisory panel recommends screening for 34 “core conditions” but leaves the final decision on what to test for up to individual states.
Minnesota currently screens for 32 of those conditions is in the process of adding the other two. Some other states have fewer tests. Wisconsin and Iowa screen for 31 conditions, according to information compiled by the Association of Public Health Laboratories.
Because of Leo’s case, some states have already changed cut-off values for MMA. But not all.
Minnesota officials told Leo’s family that they’ve now lowered the cut-off that could have caught his condition to 0.37. Since Leo’s reading had been 0.38, cases like his would now be flagged in the future.
“They said that we had helped children in Minnesota and Michigan,” Stephanie said.
Little comfort for a family wishing better national requirements would have been adopted in time to have helped their son.
“When Leo was born, I was like, ‘Oh, like this kid’s going to be important, right? He’s going to make a difference. Right?’” Stephanie told KARE 11. “And this is not what I meant.”
She hopes her son’s case prompts even more change nationwide.
“I just want them to look at it,” she said.
Information for parents
Here are helpful links where you can find additional information.
The U.S. Department of Health and Human Services “Advisory Committee on Heritable Disorders in Newborns and Children” makes recommendations about screening. That committee is scheduled to meet later this week. You can find information about their activities here.