DENVER -- A Colorado boy is at the center of a major medical discovery that’s getting worldwide attention.
For years, doctors had struggled to figure out what disease plagued the then four-month-old.
And now they know.
The disease had never before been identified.
Like many 9-year-old boys, Max Watson admires superheroes. "He loves Batman," says his mom, Deana Watson.
He also loves his sleepy dog George. And he loves music.
"Everybody has dreams for how their children will impact the world. Max has altered the course of medical science," says Max’s dad, Steve Watson. “Theories that geneticists had for years have now been proven because of Max.”
But unlike most 9-year-olds, Max is the reason doctors discovered a new genetic disease called cobalamin X.
He can’t process vitamin B-12 found in some foods.
"Pretty quickly after he was born we knew something was wrong. He was not eating. He was losing weight. He was sleeping all the time. And he was floppy. He was a floppy baby,” says Deana.
For years, doctors thought he had a related disease, cobalamin C, or B-12 deficiency.
"It caused seizures in him, severe epilepsy, physical and developmental delays and disabilities," says Deana.
For eight years, doctors tried to figure out what disease Max had.
“They were always wondering. There was something else going on. His symptoms did not fit that disease perfectly,” says CU geneticist Tamim Shaikh.
Finally, they mapped out all his genes and discovered a flaw so rare, they know of only 13 other children in the world who have it.
Researchers at the University of Colorado School of Medicine and Children’s Hospital make the major medical breakthrough, which affects only boys and is passed down by the mother.
"Big thanks to Max. Big thanks to Max and his family," says Shaikh.
He says identifying this mutation will lead to correctly diagnosing it and perhaps, someday, being able to treat it.
"I think it has been a blessing. One of the most amazing experiences."
It’s a discovery Max’s family knows won’t help them. He still needs complete care.
But it might help others.
"It could lead to better treatment. It could lead to a cure for other families. And we're happy to be a part of that," says Deana.
The discovery is published in the American Journal of Human Genetics.AlertMe