That means identifying patients as soon as possible—ideally at birth. Finding them early could mean the difference between life and death. But as AveXis and other biotech companies race to bring transformative gene therapies to market, states have been slow to adopt screening tests for genetic diseases that are, increasingly, treatable.
Newborn screening tests in the US cover a minimum of 34 disorders, and many states have opted to add more. Yet most don’t look for spinal muscular atrophy (commonly abbreviated as SMA), even though it’s the leading genetic cause of infant death. About 400 babies in the US are born with it every year. AveXis’s therapy is for the most common form, type 1.
For parents of children with SMA, like Krystal Davis, newborn screening means giving those with the condition as close to a normal life as possible..
“It is kind of oxymoronic,” said Lampson, who joined the Loons before this season, “that I am so passionate about helping pediatric cancer patients.”
June 10, 2007
Lampson was a mischievous daredevil of a kid who to this day loves Teenage Mutant Ninja Turtles and going to the zoo, according to his mom, Mecy Lampson. He turned into an independent and sometimes stubborn teen, unconcerned with his symptoms, including weight loss, shortness of breath, dizziness, night sweats and lumps in his neck.
It wasn’t until a school blood drive turned him away from donating because of low blood counts that his parents — his mom is a nurse, dad an anesthesiologist — forced him to see a doctor and eventually have his lymph nodes biopsied.
On June 10, 2007, his diagnosis of Hodgkin’s lymphoma was official. But his parents waited to tell him until after his orientation at Northern Illinois University, where he was set to play soccer in the fall. They wanted him to have a taste of college in case that was his only opportunity.