New Treatment for Deadly Genetic Disorder

It can kill kids before their first birthday. The infantile form of Pompe Disease is a death sentence if not treated. But now there's something keeping kids alive longer. 

If Haley Hayes' parents could have one wish, it would be a cure for their six-year-old daughter. Haley was diagnosed with Pompe Disease, a fatal, genetic illness when she was six months old.

Haley lacks an enzyme that helps break down sugar. So it builds up in her heart and skeletal muscles, damaging them. When Haley was diagnosed - most babies with Pompe Disease died

But a once-a-week infusion  has changed everything.   Myozyme replaces the enzyme haley lacks. Without it, most babies didn't make it to their first birthday. 

Some patients create antibodies that prevent them from responding to myozyme.  But doctors at Duke University Medical Center found three chemotherapy drugs that wiped out the harmful antibodies in infants, allowing them to respond to myozyme. These babies would have died, but the oldest is now five. 
 
While Haley takes myozyme once a week most patients take it once every two weeks. Myozyme is not a cure.  Since it's so new doctors don't yet know how long kids treated with it will live. The oldest living child taking it is 13 years old. Doctors say it's vital to start children with myozyme as soon as possible