May 9, 2013 at 11:50 AM ET
Caelon Arthur’s parents felt helpless but promised they would never give up. Their 4-year-old son had suffered six major strokes, and doctors couldn’t figure out what was causing them or how to make them stop.
Weeks after a story on Caelon aired on TODAY, doctors are now one step closer to solving the medical mystery that has plagued the North Carolina boy who loves fire trucks. It turns out he has a condition so rare, only four other children have been identified with it. It doesn’t even have a name, although doctors may call it FEOS, for fever and early onset stroke.
In April, a scientist at the National Institutes of Health saw the TODAY report on Caelon online.
“I was like wow, what is this about?” Dr. Ivona Aksentijevich said on TODAY Thursday.
Doctors at the NIH had been studying four other children with multiple strokes and high fevers at an early age, much like Caelon. “You could pretty much stack their MRI images one on top of another and see the exact same findings,” the NIH’s Dr. Amanda Ombrello told TODAY.
Caelon was brought in for testing and doctors’ suspicions are now confirmed. He has an extremely rare genetic protein deficiency in his blood, TODAY reported.
"We found that the levels are extremely low or close to undetectable," said Dr. Dan Kastner of the National Human Genome Research Institute.
The news is giving hope to Caelon’s parents, Tony and Jennifer.
“It’s a step in the right direction,” Tony Arthur said.
Doctors are unsure how they will treat it, although they may try injections of fresh plasma if the Food and Drug Administration approves the treatment. That could happen in several months.
Though the genetic abnormality has no known treatment, Caelon’s doctor, pediatric neurologist Tim Gershon, was pleased to learn that Caelon’s condition matched the other four patients because now doctors have a target they will try to treat.
“I was very happy and I remain very hopeful,” Gershon told TODAY.com Thursday.
“It’s a remarkable success story for the TODAY show and for the NIH,” he said. “We are working with the team at NIH to try to come up with a treatment plan in light of this new information, but since the disease is something that’s only just been discovered, there’s never been a clinical trial of any medication for this disease.”
How simply having a diagnosis will affect Caelon’s prognosis, Gershon said, “is a million-dollar question.”
“Sickle cell anemia is something we’ve had a diagnosis for a long time but we still struggle to treat it,” said Gershon, of the University of North Carolina School of Medicine. “On the other hand, there are conditions where we have a genetic understanding and a treatment is suggested that’s very helpful.
“It could go either way, but it doesn’t hurt to have this new information, and it does give us some basis for thinking about what would be a reasonable approach to treatment,” he said.
Caelon’s strokes left him blind in his left eye, and weakened on the right side. He has had to re-learn how to walk several times. Throughout his illness, his doctors ran tests but still couldn’t determine the cause of his extremely rare condition.
“Every test we’ve done to try to identify a cause of stroke has come up normal,” Gershon told TODAY in April.
Caelon's parents said they weren’t giving up hope, inspired by their son’s love of life. “There’s nothing about him that has the word 'quit' in it,” Tony Arthur said earlier. A fundraising website has been set up for Caelon.