SINGAPORE – Mr Yeo Wee Chong, 36, used to play the bass clarinet full-time 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 the Singapore General Hospital (SGH), told The Straits 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,” he added.

Reported incidence of Pompe disease is around 1 in 40,000, with some literature citing it as 1 in 17,000 to 37,000 in Asia.

Doctors said when Pompe disease starts at infancy, it usually progresses faster and with greater severity, compared to later onset when the patient is an adult.

“(Infant patients) develop severe symptoms in the first few months of life. They classically have generalised weakness and loss of muscle tone, feeding difficulties, and continue to develop respiratory failure and require ventilator support. Important organs are also affected, leading to enlarged heart and liver,” Dr Yong said.