Little girl, big surprises

All Rachel Siew Suet Li wants is to be ordinary but being a Morquio child makes her special, writes

Standing at only 92.5cm (a little shorter than the average height of a 3-year-old) and with limited motor abilities, it’s an understatement to say that Siew faces tremendous challenges every day. “There are a lot of things that people take for granted. Even the simplest of tasks such as climbing the stairs or pushing the buttons in the lift may seem like a breeze for able-bodied people. But not for me,” confides Siew.

The book contains some 50 inspirational quotes that come from her everyday experiences. Shares Siew: “They speak to me whenever I’m down. I hope they do the same for all who read them. My advice is to internalise it and believe.”

Each quote may not be new or original, but it’s the personal accounts tied to them that make them meaningful. After reading the last page, I couldn’t help but shed a tear. Not a tear of sadness but a tear of resolve and faith — that no matter what, things will be all right.

BORN DIFFERENT

Her mother was informed of her abnormalities during a regular checkup at a clinic when she was 2 years old. The doctor eventually referred her to a hospital in the city, hoping that it would be able to shed some light on her condition. Unfortunately, there were no treatments for it then and no hospitals here (in the country) were equipped to treat such a rare condition. It was in the early 1990s when Siew was diagnosed with Morquio Syndrome by a hospital in the UK. She was three then.

“One day, the doctor just closed my file and told my mum that nothing much could be done. The only reprieve they gave her was that I wouldn’t die the next day. My mum and I left the hospital in tears. She was crying because she was afraid of what Siew was one of the speakers during the KL Business Networking event held in August.

would happen to me next, while I cried in relief that I would no longer be poked and prodded by doctors,” recalls Siew.

The National Organisation of Rare Disorders in the United States estimates that Morquio Syndrome affects one in 200,000 children. However, many with this disorder often go unrecognised, under-diagnosed, or are misdiagnosed altogether. This makes it hard to determine their actual frequency in the general population.

In this country alone, it’s believed that there are only 16 to 19 people registered

with the disorder. “We’ll never know how many unregistered ones are out there because there’s just not enough of awareness for this disorder,” says Siew.

Currently, there are only two who are undergoing the ERT treatment at Hospital Kuala Lumpur, one being Siew herself, who started the treatment late last year.

The treatment is usually performed once a week where the drug called Vimizim is administered intravenously. This really expensive drug was only FDA-approved in 2014 and subsequently made available in this country a year after. It may seem extravagant to some, especially since this therapy won’t cure Siew of her disorder. Instead, all it does is stop her condition from further deteriorating. But for Siew, it’s her miracle baby.

“Although it’s expensive, it has given me precious freedom and independence,” she shares, adding: “I’ve spent more than 20 years without the enzyme in my body and I’m limited in my abilities. Now, I want to know what changes or differences it will make. After all, life isn’t measured in quantities, but quality.”

TRUE FIGHTER

Despite being riddled with disabilities and daily challenges, there’s one thing that Siew will always hold dear: her sound mind. The quote from her book, “People can walk WITH you but not FOR you. Every struggle makes you wiser and stronger…” beautifully captures her elation during her proudest moment — when she graduated with a law degree.

“It was an extremely tough road but I made it,” she reveals, looking thoughtful.