Baby Fitz was born with a dysfunctioning immune system. His treatment offers hope for curing rare diseases.
Fitz Kettler was born June 21, 2019, without a functioning immune system.
Babies with his condition, commonly known as “bubble boy disease,” rarely survive to toddlerhood. Routine colds and germs prove lethal.
When Christina Kettler picked up the phone the day after leaving the hospital with her first child, she was impressed by the personal attention from her doctor. But it wasn’t a postpartum check-in. His heel stick showed a problem. The doctor insisted the Kettlers pack a bag and rush to Rady Children’s to be placed into an isolation room.
Before Fitz was 8 days old, doctors confirmed not only that he had SCID but exactly which of about 20 different forms of the disease. His, Artemis SCID, was among the rarest, with the worst outcomes.
It was all very confusing to the new parents, who had never heard of SCID or genetic sequencing. They were so overwhelmed they could barely follow what doctors said. The diagnosis was fatal.
“It was just really difficult to wrap my head around that,” Kettler said. “I’m looking at my baby who looks as perfect as can be.”
They were given the option of a bone marrow transplant to give him healthy immune cells, and a match was quickly found. But Fitz’s form of SCID meant a transplant was likely to help for only a limited time. The Kettlers decided instead to join a gene therapy trial that might or might not save him.
“I wanted his life to be worth something and to matter, and if he could help other kids down the road with this same condition – that was how I decided on the gene therapy trial,” Kettler said.
But Fitz was seemingly cured before his first sniffle. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked. He’s now a “permanently happy,” extremely cute and very typical 2-year-old, who loves to run barefoot, mop the floor and assert his independence. “Fitz do it!” is his favorite phrase.
His story offers a glimpse into the future for rare inherited diseases.
Like Fitz, a newborn could be diagnosed shortly after birth, or even before, with effective treatment begun in time to prevent irreversible damage – the only evidence of illness a note in a medical chart.
The medical advance doesn’t mean an end to all rare diseases. Not every one of the 7,000 known childhood conditions is caused by a simple glitch in a gene. And even if a genetic fluke can be reversed shortly after birth, the child might already have lost brain or muscle cells, requiring extensive, ongoing therapy to participate in daily activities.
In the coming years, scientists hope to end a number of illnesses that have caused misery for generations – sickle cell disease, cystic fibrosis, hemophilia, PKU and a host of lesser known conditions – at least in places and among people who can afford state-of-the-art care.
“It’s a wonderful time in gene therapy,” said Harvard geneticist George Church, a pioneer in genetic sequencing and editing.
For decades now, most newborns have been pricked on the heel on their first or second day of life, and their blood spot screened for as many as 50 different diseases, depending on where they live.
For some conditions, like PKU, short for phenylketonuria, such early identification means the child can avoid eating protein, which would otherwise devastate their developing brain. For others, like sickle cell, early knowledge means starting medications and helping parents prepare for the pain crises to come.
As important as these early indications are, they haven’t, until recently, led to completely different trajectories or cures.
That’s the promise of gene therapy.
Learn more about the story of baby Fitz at USA Today News.
Original article: Published on USA Today News on December 21, 2021, Link
Photo credit: Rady Children’s Hospital
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