Horizon Carrier Screen
August 29, 2016
Learn About Duchenne
Duchenne muscular dystrophy is the most common fatal genetic condition diagnosed in childhood. The condition primarily affects boys, and about 1 in 3,500 boys are born with Duchenne each year. The condition has a similar incidence to a more well-known condition, cystic fibrosis. Unlike cystic fibrosis, carrier screening for Duchenne has not been as widely available until recently. If a woman is a carrier for Duchenne, she has a 50 percent chance of having an affected child if she has a boy. Join Doctor Kimberly Martin, senior global medical director for Natera, as she discusses the benefits of early carrier screening Duchenne muscular dystrophy. We’ll also hear from Leia, who is a Duchenne carrier and a big advocate of early screening. Leia will discuss how knowing your carrier status can help with family planning decisions and, potentially, your own health.
On this episode, Beth Troutman tells her story; Christina Nicholson embarks on an adventure to Orlando with her family; and former football player Marc Bouniconti shares his journey.
Three decades later, Marc Buoniconti, a quadriplegic, visits The Balancing Act to talk about his life, his mission, and his goal to one day walk again.
The Balancing Act's host Christina Nicholson and her family are embarking on a fun-filled vacation to Orlando, Fla., also known as the "theme park capital of the world."