Gene Mutation Didn’t Slow Down High School Senior

written by Eyrn Brown, LA Times

 

She was elected La Jolla High’s homecoming queen, worked as features page editor of the school newspaper and published a novel with a friend — her second, featuring an alter ego character navigating friendships during senior year. During spring break, she toured London and Paris.

And she did it in spite of a mysterious ailment that makes it extremely difficult for her to walk, talk and eat, disturbs her sleep and generally makes it tough for her just to be a kid.

People show up with a 2-year-old and see the success that Lilly has had, and it gives them a lot of hope.  A few years ago, her parents told The Times last year, it wasn’t clear that Lilly, now 18, would live long enough to graduate and look ahead to college.

Disabled since birth, she is plagued by debilitating muscle weakness and other health problems. It was only in 2011, when Lilly was accepted to participate in a DNA study at the Scripps Translational Science Institute in La Jolla, that Steve and Gay Grossman got a glimpse into why.

Scientists who sequenced Lilly’s genome — the 3 billion DNA base pairs that make up her entire genetic blueprint — found that she had suspicious mutations in two genes. One, the gene called ADCY5, previously had been associated with similar movement disorders in another family.

 

click here for article