Pompe disease left bass clarinet player struggling to breathe

Medical Mysteries is a series that spotlights rare diseases or unusual conditions.

- Judith Tan

Mr Yeo Wee Chong, 36, used to play the bass clarinet in a concert band.

His career as a musician was abruptly cut short, however, when he was diagnosed with Pompe disease at the age of 29.

Pompe disease is a rare genetic disorder that can result in respiratory failure, a significant complication due to progressive respiratory muscle weakness, especially affecting the diaphragm.

"I became extremely drowsy and unable to focus properly. On the advice of my family doctor, I went to the emergency department. I was admitted to the ICU (intensive care unit) and subsequently intubated while the doctors figured out the root cause of my feeling poorly," said Mr Yeo, who is currently between jobs.

It took doctors another two to three weeks before they diagnosed his condition.

Dr Yong Ming Hui, a consultant from the department of neurology at the National Neuroscience Institute at Singapore General Hospital, told The Sunday Times that affected patients lack the acid alpha-glucosidase (GAA) enzyme needed to break down glycogen.

Glucose, the fuel used by the body's cells for energy, is normally stored as glycogen in the liver and muscles. In Pompe disease, glycogen builds up in the cells of certain organs and muscles, impairing their normal function. This leads to progressive muscle weakness, mobility problems and affected breathing.

Mr Yeo was told he could not continue playing the bass clarinet because of the weakness of his diaphragm. "This was a particular sore point for me as I was active in performing with bandmates and that was a big part of my social life and identity," he said. "But I accepted and recognised the situation, and just try to do my best with what I have on hand."