New hope for Pompe Disease patients

January 13, 2009


little boy diagnosed with a rare genetic disorder wasn't expected to make it to his first birthday, but a new treatment is helping him not only survive, but thrive.

Ira Brown Junior really pays attention to what's going around him.  The boy wasn't supposed to live past age one because he has the most severe form of a rare genetic disorder called Pompe Disease. 

But now he's two going on three because of a new treatment created for him at a children's hospital. 

Kids with his form of Pompe Disease, called Crim Negative, don't produce any enzyme to break down glycogen.  It then builds up in the muscles, attacks the tissue, and causes deterioration. 

Brown tried an enzyme replacement medication, but his body was rejecting it.

To stop Ira from making antibodies, doctors suppressed his immune system with a form of chemotherapy called Rituximab and it allowed the enzyme replacement therapy to work. 

Now, the little boy is strengthening his muscles with physical therapy and being slowly weaned from a ventilator.

Doctors have not begun a clinical trial on the treatment yet, but they are testing it on two other children.