BOSTON - A landmark genetic test is being offered in Boston allowing parents to test their newborns for about 1800 diseases – including some that have no known cure.
It’s a test most families have turned down, but one says it changed their daughter’s life.
At just 18 months old, Cora Stetson can't keep still.
She’s full of energy and curiosity. You might never know she has partial Biotinidase deficiency. It’s a condition that can affect cognitive abilities and cause seizures in young children.
It's a genetic condition with no known cure, but it can be treated.
Both Lauren Stetson and her husband, Kyle, had no idea Cora had this condition until they agreed to have her participate in the new test conducted by doctors at Brigham and Women's Hospital.
“It's basically taking an individual's entire genome and throwing it through a sequencer and analyzing each gene that is associated with disease,” Genetic Counselor Shawn Fayer explained.
The test looks at 1800 genes. Some diseases doctors test for have treatments, but others don't; which is why some families decline to participate.
Lauren says she and her husband agreed for the benefit of Cora and other children.
“To be on something and working with something that is advancing the medical profession is something we were willing to do because we know it could babies and it helped our child and it's pretty great,” said Lauren.
Cora's condition might be very rare, but the treatment on the other hand is incredibly simple.
It involves taking biotin, a vitamin found in any drug store, which Cora eats every day with yogurt.
For Lauren and Kyle having Cora genetically tested has changed their lives and hers.
“Maybe she's the next Einstein, but she wouldn't have been if we hadn't done this,” said Lauren. “It's a little mind boggling when you start piecing it together.”
The pilot program will end next summer.
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