New Zealand academics have solved a 59-year-long medical mystery which saw a Dunedin child have eight years of unnecessary chemotherapy.
Ray McCormick was diagnosed with the rarest form of leukemia in the world at just two years old, which has now been proven to be a misdiagnosis. His new diagnosis, however, is even rarer.
“When I was two-and-a-half years old, I had an enlarged spleen, they took it out and they reckon it was leukemia,” the now-59-year-old explained.
While McCormick is unable to remember much of his illness, he had 50 times the normal amount of B cells in his blood and wasn’t expected to survive.
After undergoing eight years of chemotherapy which “made my teeth fall out”, McCormick defied the odds and years later, curious about what happened, he told his doctor.
“I got a call from a GP and she said, ‘hey Ian, I’ve got Ray with me and he says he's got the rarest leukemia in the world,’” research haematologist Ian Morison said.
Experts began what became a 20-year diagnostic investigation, starting with regular blood donations.
Research fellow Jackie Ludgate, whose job it was to extract DNA from McCormick’s blood to examine the DNA mutation.
Morison was "was really excited a few years ago” after discovering McCormick's spleen. The organ had been stored in the basement of the Otago Medical School since 1965, until McCormick dug it out.
"We could find a piece of spleen inside a piece of paraffin wax, cut the slices of it and use modern techniques they didn't have when you were a kid,” Morison explained to McCormick.
The modern techniques ruled out leukemia. Instead, it’s been discovered that McCormick is one of 20 people in the world with a gene mutation called CARD11.
“At that time, I think they probably did the best job that they could,” Ludgate said.
McCormick is staying on as a medical miracle.
“I can say I hold the world record for being the oldest,” McCormick said.
He will continue to be monitored so doctors can learn more about his rare condition.
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