Most people find it hard to keep their dreams alive, but kids like Zecia Chew are struggling to simply stay alive. The 11-year-old has Gaucher disease.
Gaucher disease is a rare inherited disorder that afflicts one in 40,000 people. It causes fatty substances to accumulate in and affect the functions of the liver, spleen and other organs. The condition occurs when the body does not produce glucocerebrosidase, an enzyme that helps break down fatty substances.
Zecia Chew was three years old when she was diagnosed with Gaucher disease. While no local statistics are available, Dr Tan Ee Shien, Head and Senior Consultant, Genetics Service, at KK Women’s and Children’s Hospital (KKH), reveals that there are five children in Singapore with this rare inherited disorder.
“While Gaucher disease can present either in childhood or adulthood, it affects younger patients more severely and some severe subtypes can lead to developmental delay, muscle rigidity and seizures,” adds Dr Tan.
Since the age of one, Zecia has had trouble walking, often tripping and falling as a result. While her limbs were scrawny, her belly was bloated; she also couldn’t eat well. Her parents brought her to various doctors, who attributed the condition to “poor digestion” and a “weak stomach”, among other factors.
Zecia also bled easily and had a low blood count. When a bone marrow test at KKH indicated the presence of Gaucher cells, further enzyme and genetic tests were done, which confirmed the diagnosis. As Dr Tan points out, few in Singapore understand the condition as it is very rare, hence more time and effort was required to arrive at a definitive diagnosis.
“Gaucher disease caused Zecia’s liver and spleen to become enlarged and led to abdominal distension. This was not just uncomfortable but also limited the amount of food she could take,” says Dr Tan.
“When fat accumulates in the bone, the bone marrow becomes unable to produce sufficient red and white blood cells and platelets. This can lead to anaemia, as well as increased susceptibility to infection and bleeding. Patients also suffer bone pain or a predisposition to fractures.”
Getting her Gaucher disease diagnosed early saved Zecia’s life. Now, she receives fortnightly enzyme replacement therapy to reduce the size of her liver and spleen, and eliminate abdominal distension. With her illness under control, she can attend school, just like other healthy kids.
The life-long treatment for Zecia costs over S$24,000 a month, and the figure is expected to go up as her medical dosage increases as she grows bigger and heavier. With two other children to support, the medical expenses are a financial strain on her parents, but this is the only way to keep their daughter alive.
How You Can Help Kids Like Zecia
Subscribe to A magazine at S$100 (10 print and digital issues) and, in your name, we will channel every dollar to the Rare Disease Fund, which helps patients with their high-cost lifesaving medicines over their lifetime.
Gaucher disease is one of three conditions covered by RDF, which seeks to offer long-term financial support to patients requiring medications that have proven to be clinically effective and can help extend their lifespan.
These medications work to replace enzymes or biochemicals missing from the body and, coupled with early treatment, can help improve a patient’s quality of life.
The other two conditions currently supported by RDF are primary bile acid synthesis disorder and hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency.
RDF is managed by KKH Health Fund (part of SingHealth Fund) and supported by the Ministry of Health. To qualify, patients must meet specific clinical criteria for initial or continuing treatment with RDF-approved medicines. Applications are assessed on a case-by-case basis and the financial means of the family and availability of other financial assistance options will be taken into consideration.
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