Girl, 4, suffers from rare disease that causes tummy to bloat

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http://www.yourhealth.com.sg/content/girl-4-suffers-rare-disease-causes-tummy-bloat

The first sign that there was something wrong with 4-year-old Zecia Chew was innocuous enough, her parents Sharon and Avan said.

They noticed that her belly was growing faster than the rest of her tiny frame. Yet she didn't seem to be eating that much food. Worried, they brought her to see a number of medical practitioners, many of whom said she had "poor digestion", "too much wind" or "a weak stomach".

When Zecia finally mastered walking, she did so with huge difficulties, often tripping and falling. Finally in October 2011, Zecia's bloated tummy, poor sense of balance, frequent complaints of tiredness and many other seemingly unrelated symptoms became too much for her parents to dismiss as "normal" for a child her age.

On October 18, Sharon and Avan received the devastating news - Zecia was suffering from a disease so rare, they had never even heard of it.

Zecia suffers from a rare condition that has caused her tummy to bloat and look like a pregnant woman's.

She suffers from Gaucher's Disease - a genetic condition where a fatty substance called lipids accumulates in cells and certain organs.

The disease is characterised by the enlargement of the liver and spleen, fat hoarding and a distended abdomen.

It is believed that there are only two known cases of Gaucher's Disease in Singapore, Chinese daily Shin Min reported.

Treatment costs a hefty $12,000 a month. Zecia has to go to a hospital every two weeks to have an intravenous therapy drip inserted into a vein for medications to be introduced into her body. The treatment includes enzyme replacement therapy, which helps to reduce the enlargement of the liver and spleen, resolve blood abnormalities and improve bone density.

Without a suitable bone marrow transplant, Zecia will have to undergo the treatment for the rest of her life. As she cannot find a suitable bone marrow match among her family members, the family is hoping that Zecia 's five-month-old sister might prove to be her saviour.

As Zecia grows older, she requires a larger therapy dosage each session. This means that her $12,000 monthly medical bill will only grow bigger over time.

Her father Avan, 33, is working as a hotel employee, while her mother Sharon, 28, is working as a shipping accountant. However, the couple's combined take-home pay only comes up to $3,000 a month.

They are currently relying on a medical subsidy of $30,000 to help foot the bills, but the fear is that the money will soon run out.

The treatment bills are too heavy for the family to bear. But untreated, Zecia will almost certainly not survive.