SINGAPORE: A second child in Singapore has been diagnosed with congenital disorders of glycosylation (CDG), a rare genetic disease. But doctors warn there could be more cases going undetected.

Seven-month-old Shyann Tan has had several infections, a hole in her heart, and recently underwent surgery to prevent blood from flooding her lungs.

She suffers from CDG, an inherited disorder where the symptoms usually show up when the child is a few months old.

The disease affects the building of glycoproteins, which are basic structures for all tissues and organs, in the body. Its malfunction will affect immune systems, development of organs and digestive systems.

Shyann's condition was only diagnosed after visiting six doctors in five months – precious time which could have been used to start treatment earlier.

There are currently no labs which test for CDG in Singapore, so Shyann's blood sample had to be sent to Australia. But doctors said the lack of testing facilities in Singapore is not really an issue because the Australian labs produce results pretty fast.

What is an issue is the fact that there could be a lot more CDG cases in Singapore that are going undetected. It is estimated that one in 40,000 toddlers could suffer from CDG.

Dr Tan Ee Shien, consultant, KK Women's and Children's Hospital, said: "Because it is so rare and not well known, most people would not suspect or even think of diagnosing a case of CDG. Therefore, many cases probably will go undetected.

"To have the diagnosis means that we would know what to expect, what organ system to watch out for, how to treat the complication. It may not have specific therapy, but we will be able to best manage the patient, knowing exactly what is the cause of the disease."

There are 19 strains of CDG and only two are curable. However, doctors can treat separate conditions such as organ failure. If the child survives past the first two years, there is a shot at a normal childhood.

When Shyann's brother died two years ago, doctors said it was due to a congenital heart disorder. In retrospect, they acknowledged that it could have been CDG.

Had his condition been diagnosed properly, Shyann's mother, Angela, would have gone for prenatal testing. For now, Angela said she treasures every day she has with her daughter.

"She is looking so, so weak. Her little life is really struggling for breath. Every day, I say – don't do this to me again, don't take her away. Just keep her, keep it this way," said Angela.

Doctors have given little Shyann a bravery award for her willpower to live, despite the suffering she is going through.


- CNA/so