Health Beat: B12 breakthrough — Patient #1
Updated On: Nov 19 2013 05:08:16 PM CST
A recent discovery identifies a rare genetic defect for the first time ever.
Ten-year-old Max plays the keyboard with his head, the drum with his foot, and communicates by computer with his elbows.
"He's amazing because, through all these challenges, he's still so smart," said Abbey Watson, Max's sister.
It took nearly 10 years after Max was born for doctors at the University of Colorado School of Medicine to identify the cause of his disease.
He is the first of 14 boys to be diagnosed with Cobalamin-X, a rare disease in which his cells cannot properly process vitamin b12, leading to a buildup of toxins in the body.
"We were told he was one of 250 in the world when he was 4-months-old," said Deana Watson.
Eventually, 13 others were identified, but Max's symptoms were more severe than the others. Doctors were stymied.
Using blood samples from Max and his parents, researchers sequenced millions of tiny pieces of DNA, every gene, and discovered a mutation on Max's X chromosome.
"Low and behold, we sequence this same gene in which we found a flaw in Max. The other 13 boys had flaws in that same gene. That was the 'ah-ha' moment," said Dr, Tamim H. Shaikh, associate professor of pediatrics, University of Colorado School of Medicine.
"All parents wonder what impact their child is going to have on the world and Max has altered medical history," said Steve Watson, Max's dad.
The findings, while important to science, do not change things for Max. The hope is that one day doctors will be able to predict and maybe even prevent such birth defects by sequencing the entire human genome of parents in advance.
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