After enduring years of tests, Julie was finally correctly diagnosed with Pompe disease. Pompe is a treatable disorder but patients can't be treated until they are diagnosed. Some remain undiagnosed after living with symptoms for many years.
Pompe disease is a genetic disorder. It causes a low level of a specific enzyme whose job it is to break down glycogen. That glycogen builds up in the cells until there is irreparable damage. Patients are fortunate that there is a treatment available for Pompe. Most rare disease patients have no treatment at all.
14 май 2018
