When Christina Kettler gave birth to her first child, Fitz, in the summer of 2019, he seemed happy and healthy.
He got the standard newborn screening — a heel prick blood test that all babies get to catch dozens of potential genetic disorders like sickle cell anemia or cystic fibrosis.
Kettler said she felt pretty confident that his results would come back with nothing concerning. The family used fertility treatments that involved having their genes examined for any possible issues.
But then Fitz’ results came back. He did have a genetic condition — severe combined immunodeficiency — also known as SCID.
“In the back of my head, I was still kind of like, ‘Yeah, I know there’s some sort of error,'” Kettler said. “We had everything genetically tested already. You know, this this is a clerical error or something like that. And so they had us rush off to the hospital again. My baby at that point, he’s four days old. He looks perfectly healthy, has a great appetite. Nothing look wrong.”
“You’re essentially born without an immune system,” Kettler added. “So in Fitz’s case, he did not have any T cells or antibodies. No B cells… Anything — in terms of, you know, a bacterial infection, a viral infection, fungus — anything could essentially kill him.”
That newborn screening gave Fitz a general diagnosis, but the doctors said there are 20 types of SCID. His treatment needs would depend on the type he had.
He underwent rapid whole genome sequencing. Instead of looking at specific, small chunks of his DNA, this test looks at everything.
Think of our DNA like a computer code. There are common places for a glitch to be, but there are also bits of code that glitch rarely. So looking at the whole picture can solve some mysteries that checking those usual places won’t.
For decades, this kind of genetic examination was done in research labs by supercomputers. But over the past decade or so, it has gotten more and more accessible in clinical settings.
This year, Tennessee lawmakers passed a bill that makes sure the state’s Medicaid program, TennCare, covers rapid whole genome sequencing. It’s called rapid because the process can take weeks, but this version of the test takes a few days.
It’s not something most families will need. TennCare says they haven’t gotten any requests to cover the service since the law took effect in July.
But for cases like Fitz’, it can mean life or death.
“We discovered he has Artemis SCID, which is actually one of the rarest forms of SCID — of this already very rare disease,” Kettler said. “There about 10 children a year diagnosed in the US in Canada.”
The treatment for other forms of that disease — which includes a bone marrow transplant — wouldn’t have been enough for Fitz. With the genomic sequencing, his doctors were able to tailor his treatment.
The Kettler family got all this testing done at Rady Children’s Hospital in San Diego. Its genomic sequencing program is working to make the testing more accessible nationwide. They work with doctors in other states on these policy efforts.
That includes Dr. Terri Finkel. She’s a pediatric rheumatologist and professor who works for both LaBonheur Children’s Hospital in Memphis and the University of Tennesee Health Sciences Center. She works in diagnostic dilemmas — cases where children have some kind of issue, but the underlying cause is a mystery.
Some patients find their diagnosis during the newborn screening, like Fitz. But others come in with a string of symptoms that could be several different diseases — all of which need different treatments.
And in some cases, the treatment is as complicated as Fitz’s, but not all of them.
“That may be as easy as running to the drugstore and getting a vitamin off the shelf,” she said. “I mean, it can cost eight cents a day to treat some of these children.”
That’s because babies can be born with genes that make them have a vitamin deficiency.
“A baby in the in the neonatal intensive care unit will have seizures that cannot be controlled,” she said. “Once we make the diagnosis, we give them a vitamin, vitamin B, and they stop seizing. It’s just miraculous.”
Earlier this year, she advocated for a bill that would make TennCare cover these tests, which can cost thousands of dollars out of pocket. She made her case in a hearing.
“Mr. Chairman and members of the committee, imagine the fear and frustration of seeing your child spend the first five years of their life in and out of the hospital as doctors try to figure out what is wrong by trial and error,” she said during the February meeting. “Now, consider those years reduced to days. This is the promise of Senate Bill 1762 and rapid genome sequencing in children with rare diseases.
The argument was convincing. It passed unanimously in both chambers.
Christina says Fitz is living that promise Finkel talked about. He got into a clinical trial for gene therapy.
“Fitz is five years old,” she said. “He is healthy. He is a normal boy. He is fully immunized now. He is rambunctious. He is full of energy. He’s in kindergarten. I mean, he’s just as normal as you can be.”
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