Patient Advocacy Group MLDA Raises Funds for Treatment of Rare Disease with This Fascinating Wayang Kulit Campaign

WORDS LIM TECK CHOON

FEATURED EXPERT
LEE YEE SENG
President
Malaysian Lysosomal Diseases Association (MLDA)

The Malaysia Lysosomal Diseases Association (MLDA) unveiled its latest fund-raising effort in February—a collaboration with Fusion Wayang Kulit to shine the spotlight on the difficult circumstances faced by people living with lysosomal storage diseases or LSDs.

WHAT IS LYSOSOMAL STORAGE DISEASE?
First, let’s look at the lysosome, a structure within our cell.

It is usually spherical in shape and contains enzymes that helps to break down carbohydrates, lipids, proteins, as well as waste materials from outside and inside the cell and even old or damaged components of cells.

Researchers found that there are more than 60 different enzymes found in our lysosomes.

The enzymes fail to work properly or don’t work at all when one has the disease.

The term ‘lysosomal storage disease’ refers to a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function.

As the name of the disease suggests, the enzymes inside the lysosomes of people with this disease fail to work properly.

As a result, various products normally broken down will inside accumulate within their cells, and over time, this will lead to damage of tissues and organs in the body, such as the brain. central nervous system, heart, skin, and skeletal system.

The symptoms of lysosomal storage diseases can vary from person to person and are often difficult to diagnose. 

Furthermore, there are only 16 rare disease specialists in Malaysia at the moment, so delays in diagnosis are not unusual.

Treatment of lysosomal storage disease is very expensive.

Enzyme replacement therapy (ERT), which sees the doctor injecting into the patient genetically engineered enzymes in place of the defective lysosomal ones, often costs more than RM500,000 a year.

The patient’s expenses can increase further depending on the specific rare disease and their unique needs.

Given the constraints of government-based funding, with minimal annual increments, many people with this disease find themselves in need of financial assistance from diverse sources to cover the expenses of ERT.

Additionally, there are the associated costs of supportive therapies such as physical therapy, pain management, dialysis, and more.

THE MALAYSIAN LYSOSOMAL DISEASES ASSOCIATION (MLDA) AS THE VOICE OF PEOPLE WITH THE DISEASE

“MLDA serves as a voice for patients with LSD as they, together with their families and caregivers, have limited information and resources to cope with managing these conditions,” says Lee Yee Seng, the President of MLDA.

“Few people understand the challenges of raising a child with LSD or how symptoms can severely affect a patient’s independence and quality of life,” he adds.

With regards to the high cost of ERT, he states: “Treatment with ERT is essential to keep their condition from getting worse, relieve symptoms and prolong their lifespan. This is why we are determined in our mission to raise awareness about these conditions and help provide financial support through sponsorships and fund-raising efforts like these.”

RAISING HOPE & FUNDS THROUGH ARTISTRY & BEAUTY

This year, MLDA and Fusion Wayang Kulit have embarked on a first-of-its-kind ambitious project to share patient-inspired stories through the traditional art of shadow play or wayang kulit, but with a modern touch.

Each tale depicts a different aspect of how people with LSDs and their families are affected, from social isolation and loneliness, the despair parents feel when faced with their child’s suffering, to the uphill battle in search of the right diagnosis and the financial burden of treatment.

“We hope that these stories will resonate with all Malaysians, who can surely relate to the pain and suffering of these patients, that they will be inspired to support our mission in any way they can,” says Lee.

WATCH & REACH OUT

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A Cancer Expert Explains What You Should Know About Wilms Tumour

WORDS LIM TECK CHOON

FEATURED EXPERT
DR ENI JURAIDA ABDUL RAHMAN
Consultant Paediatrician, Paediatric Haematologist, and Paediatric Oncologist
Sunway Medical Centre

“Wilms tumour is the most common type of kidney cancer affecting children, usually those that are under 5 years old,” says Dr Eni Juraida Abdul Rahman.

FACTS ABOUT WILMS TUMOUR
  • It is also called Wilms’ tumor or nephroblastoma. The name Wilms came from Max Wilms, a German surgeon that first described this cancer.
  • The tumour is the result of mutations of genetic materials in kidney cells, which typically occur after birth.
  • Usually only one kidney is affected, but in 5% to 7% of cases, it can be found in both kidneys.
WHAT CAUSES WILM TUMOUR?

Just like with most cancers, we still haven’t found the exact causes for this cancer.

However, Dr Eni Juraida points out that there are certain genetic disorders that can increase a child’s risk of developing Wilms tumour, such as:

  • Aniridia, or the abnormal development of the iris of the eye due to genetic mutation, usually along chromosome 11 that led to deleted genes and hence missing genetic information.
  • Hemihypertrophy or hemihyperplasia, a condition in which one side of the body or a part of one side of the body is larger than the other in an extent that is greater than what is considered normal.

“Patients with WAGR syndrome have a 45% to 60% chance of developing Wilms tumour,” says Dr Eni Juraida.  WAGR stands for: Wilms tumour, aniridia, genitourinary malformation, and range of developmental delays.

SYMPTOMS TO WATCH OUT FOR IN A CHILD
  • Painless swelling in the abdomen, occasionally noted by parents while bathing the child; the tumour may cause discomfort
  • Haematuria, or blood in urine
  • Hypertension or high blood pressure
  • Fever
  • Unusual loss of appetite, resulting in weight loss
  • Pain in the abdomen
  • Generally feeling unwell
  • Cough and shortness of breath
HOW IS WILMS TUMOUR TREATED?

Treatment options will depend on the stage of the tumour.

Surgery

The mainstay treatment, usually done upfront for stage I and II tumours and sometimes delayed for stage III, is a surgical procedure called nephrectomy. This surgery removes the affected kidney and hence the tumour from the child’s body.

In the rare cases when tumours are present in both kidneys, partial nephrectomy removing only the parts affected by the tumour will be performed to preserve as much of the kidneys as possible.

Chemotherapy

“Chemotherapy are medications that are given to kill cancer cells,” Dr Eni Juraida explains.

For stage I and II tumours, these medications can be given after a nephrectomy, to kill off any remaining cancer cells.

However, stage III tumours are much larger in size compared to stage I and II ones, and chemotherapy will be prescribed before a surgery to first shrink the tumour. This will allow the surgery to be carried out more safely.

Radiotherapy

This may be prescribed in some cases, usually for tumours that has spread to other organs such as the lungs or are not completely resolved via chemotherapy.

CAN WE HELP PREVENT THE DEVELOPMENT OF WILMS TUMOUR IN OUR CHILD?

“Since we don’t know the cause, it is difficult to have any preventive measure,” Dr Eni Juraida points out.

However, for children with WAGR syndrome, having them undergo a surveillance ultrasound of the abdomen on a periodic basis—such as every 6 months—can help detect Wilms tumour.