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Gaucher's Disease: Singapore Girl's Illness Causes Tummy To Bloat Abnormally

3 min read
Gaucher's Disease: Singapore Girl's Illness Causes Tummy To Bloat Abnormally

This Singapore girl has Gaucher's disease, a rare illness that causes her tummy to bloat abnormally like a pregnant woman's...

Today, she looks like a normal 9-year-old. But when Zecia Chew was a toddler, her parents were alarmed to see her belly growing faster than the rest of her body.

Her father Mr Chew Tuck Choy tells The Straits Times, “Her stomach was very big, almost like a pregnant baby”.

“She was very bloated and uncomfortable and she couldn’t balance well, so she kept falling down.”

Many a doctor dismissed her condition as poor digestion or wind. Finally, specialists came to the conclusion that Zecia had Gaucher’s disease.

Gauchers disease

Image source: Facebook / Save Little Zecia

What is Gaucher’s disease

Gauchers Disease: Singapore Girls Illness Causes Tummy To Bloat Abnormally

Image source: iStock

In Gaucher’s disease, the body does not produce an enzyme needed to get rid of a certain kind of fat. The fat builds up, especially in your liver, spleen, and bone marrow, causing problems.

Gaucher’s disease is an inherited condition that’s caused by a problem with the GBA gene. Both parents have to be carriers to pass the condition to the child.

It is an extremely rare illness, and apparently, only 2 other children in Singapore have the same disease.

There are three known types:

Type 1, is the most common form and can occur at any age. It causes liver and spleen enlargement, bone pain and broken bones, and in more serious cases, lung and kidney problems.

Type 2, causes severe brain and spinal cord damage. Babies with this type usually don’t live to see their second birthday.

Type 3, also affects the brain and spinal cord. The symptoms are similar to Type 2, but they usually show up later in childhood and take longer to get worse.

Gaucher’s disease treatment

There is no known cure for Gaucher’s disease.

Enzyme replacement therapy is one option for people who have type 1 and some with type 3 disease. It helps reduce anaemia and shrinks an enlarged spleen or liver.

Gauchers disease

Zecia undergoing enzyme replacement therapy when she was little. | Image source: Facebook / Save Little Zecia

In Zecia’s case, she needs to undergo medical treatment every 2 weeks, that costs $24,000 a month!

Lack of treatment could be fatal – her liver and spleen could swell up and eventually burst.

The treatment is super expensive, and the family manages to cope with the help of government assistance.

Even then, there is no savings, and as Zecia grows taller and heavier, she will need more medication, raising treatment costs. Zecia also has 2 younger sisters.

As her father tells The Straits Times, “Basically, we have almost no savings.” 

“But the most important thing is that Zecia is healthy.”

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*This article is from our archives.

Also READ: Primary Immunodeficiency Disorder in children – What this dad wants you to know

(Source: The Straits Times, WebMD, Featured Image: Save Little Zecia)

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