Helping children with rare disorders

SINGAPORE - For two months, Ms Patricia Ng and her husband did not know what was wrong with their six-month-old daughter, Chloe, who was having difficulty swallowing her milk.

Doctors thought she might have a heart condition, Down syndrome, or a thyroid problem.

But an examination by a geneticist and a blood test analysed in the United States confirmed she was suffering from Pompe disease, an inherited neuromuscular disorder that causes progressive muscle weakness.

Infants with Pompe disease normally do not survive past their first year, and need enzyme replacement therapy before the age of six months to improve their chances of survival.

"Those two months were critical. If she hadn't been diagnosed, it would've been too late," said Ms Ng, a 39-year-old manager at Great Eastern Life.

Chloe is now three years old. Though still unable to walk or talk, she could recognise more than 40 types of animals, flowers and insects before the age of 2 1/2. She communicates through pointing.

After their ordeal, Ms Ng and her husband started the Rare Disorders Society Singapore (RDSS) for families of children with such disorders. It has grown from five families to more than 20 today. The support group raises funds for hospitals and has held several rare disorders awareness campaigns.

It met on Saturday to commemorate international Rare Disease Day. Jointly organised with Club Rainbow, the event aimed to raise awareness of rare diseases that afflict children, in order to facilitate early detection.

The United States National Institutes of Health says a disease is rare if fewer than 200,000 people in the US, a country of 315 million, have it.

There are about 6,000 to 8,000 known rare diseases worldwide, but the number here is not known. Three-quarters of them affect children, according to the European Society for Paediatric Oncology, and 30 per cent of patients die before the age of five.

Because of their nature, rare disorders are difficult to diagnose. "There have been children who were misdiagnosed, or died because it was too late to treat them," said Ms Ng, who also has a healthy six-month-old son.

Mrs Yeo Biyi, a 38-year-old financial consultant whose six-year-old daughter Robby was diagnosed with Williams syndrome when she was 10 months old, was thankful she got treatment early.

Williams syndrome is a developmental disorder that affects learning ability, and has symptoms such as low muscle tone, affecting mobility.

"We got her started on treatments like physiotherapy immediately, and we felt that starting early greatly improved her ability to walk," said Mrs Yeo.

At the event attended by about 50 adults and children, parents spoke about their experiences, and shared tips ranging from emotional management to the kinds of diets that may affect their children.

It was the first time Club Rainbow, a non-profit organisation that provides support for families of children with major chronic illnesses, was involved.

"Though rare diseases may affect only a few people, we need to start with the premise that every Singaporean matters," said its president, Mr Gregory Vijayendran. "Although they are rare, there is enough common ground with other more common diseases when it comes to emotional journeys that parents and children go through."

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