November 18, 2005 was a special day. It was the day that the first patient, identified with Pompe disease by newborn screening (NBS), was born in Taiwan. She was fortunate that she was born in a hospital where the pilot program started only eighteen days before she was born, and that she was born after many people worked tirelessly to develop a diagnostic method suitable for NBS. Thankfully, she did not have infantile-onset Pompe disease, but she did have two mutations and low enzyme activity.
Diagnosed at Birth by Newborn Screening
With a diagnosis at birth, before she had symptoms, she could be monitored. When her symptoms appeared at about one year of age, she started to receive Myozyme®. Had she not been identified through NBS, she and her family would have embarked on the diagnostic odyssey that most Pompe patients travel. They were spared the confusion and pain that’s caused by progression of the disease and by simply not knowing what’s wrong.
To be the first at anything takes a lot of work. There are many people that made it possible for this patient to be diagnosed, be they researchers, doctors, nurses, lab techs, administrators, etc. We would never be able to identify them all here and doing so would distract us from the story. We hope everyone that contributed reads this, accepts our thanks and knows that they contributed to something important, that saves lives.