Understanding & Living with Pompe Disease
June 3, 2014
Positively Impacting The Lives Of People With Pompe
It’s a devastating medical mystery: random symptoms that present in many common diseases; low awareness and misconceptions among physicians; rare incidence and lack of awareness about the disease’s existence. Chances are you’ve never heard of Pompe disease – a degenerative, genetic neuromuscular disease. But thanks to specialists like Dr. Barry Byrne, medical geneticist and Genzyme, leader in discovering and delivering transformative therapies for patients with rare genetic conditions, awareness of Pompe symptoms and disease management is growing. By increasing awareness, physicians can achieve earlier diagnoses and patients can be armed with self-advocacy and better quality of life.
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."