Expert & MLDA Share Insight into a Rare Disease Called Pompe Disease

WORDS MALAYSIA LYSOSOMAL DISEASES ASSOCIATION (MLDA)

FEATURED EXPERT
DR NGU LOCK HOCK
Consultant Clinical Geneticist and Paediatrician
Hospital Kuala Lumpur

While rare diseases may seem distant to many, they are more prevalent than commonly perceived. Dr Ngu Lock Hock highlights that thousands of rare diseases collectively affect around 300 million individuals worldwide.

Among these is Pompe disease, a genetic disorder characterized by a deficiency in the enzyme acid alpha-glucosidase (GAA), leading to muscle weakness due to glycogen build-up. In Malaysia, there are only 17 diagnosed cases of Pompe disease.

What happens inside our cells when we have Pompe disease. Click on the image for a larger, clearer version.

SYMPTOMS OF POMPE DISEASE
The following symptoms often manifest when one is a baby or young child.
  • Severe muscle weakness.
  • Breathing difficulties.
  • Swallowing issues.
  • Floppy baby syndrome: babies with weak muscle development that impairs their ability to make normal movements.
  • Older children experience difficulties in walking and experiences frequent falls.

Identifying these symptoms early is paramount, as prompt diagnosis and intervention can significantly impact disease progression.

Parents who suspect Pompe disease in their child should seek consultation with clinical geneticists, paediatricians, and neurologists.

Clinical geneticists in particular currently are available only in major public hospitals across Malaysia such as:

  • Kuala Lumpur Hospital (HKL)
  • University Malaya Medical Centre (UMMC)
  • Universiti Sains Malaysia Hospital (USM)
  • University Kebangsaan Malaysia Medical Centre (UKMMC)
  • Penang General Hospital (HPP)
DIAGNOSING POMPE DISEASE

Confirming a diagnosis of Pompe disease relies on enzymatic, genetic and genomic testing.

Dried blood spot (DBS) testing can be a convenient first step in diagnosing the disease. This minimally invasive test collects a small blood sample, which is then analyzed to measure GAA enzyme activity levels, providing an initial indication of Pompe disease.

Newborn screening programs are also instrumental in detecting Pompe disease and other lysosomal storage disorders early on. By including Pompe disease in newborn screening panels, healthcare providers can identify affected infants before symptoms appear, enabling timely intervention and improving long-term outcomes.

However, the rarity of Pompe disease poses a hurdle to timely diagnosis. With only a handful of rare disease specialists in Malaysia, early intervention remains a considerable challenge. Many patients end up seeing different doctors and specialists, sometimes for years, without being correctly diagnosed.

Hence, Dr Ngu emphasizes the need for heightened awareness among healthcare professionals, as symptoms may be mistaken for other conditions.

THE FINANCIAL BURDEN OF POMPE DISEASE

“Enzyme replacement therapy (ERT), the primary treatment for Pompe disease, comes at a substantial cost, up to RM500,000 per year. This burden is particularly significant considering a newly approved ERT offers a more effective treatment option, providing relief from the symptoms of Pompe Disease by improving muscle strength, lung function and walking distance,” says Dr Ngu.

Additionally, there are the associated costs of supportive therapies as part of the holistic management of the disease, including respiratory support for patients with respiratory failure, physiotherapy, rehabilitation, speech therapy, pain management, dialysis, and more.

MAKING A DIFFERENCE, FOR THE FUTURE

Despite the challenges, there are glimpses of resilience and determination in Pompe disease patients.

Through MLDA, patients and their families find practical and emotional support, fostering a sense of community in the face of adversity.

In the meantime, the Ministry of Health is developing a rare disease policy that includes access to the latest treatment and sustainable funding. Many are hopeful that this will include measures to help with earlier diagnosis, such as improved training for front-liners to recognize symptoms of rare disease and expanded screening tests for newborns.

For more about the Malaysia Lysosomal Disease Association (MLDA), visit their website and Facebook (links open in a new tab).

References:

  1. Shafie, A. A., Supian, A., Ahmad Hassali, M. A., Ngu, L. H., Thong, M. K., Ayob, H., & Chaiyakunapruk, N. (2020). Rare disease in Malaysia: Challenges and solutions. PloS one, 15(4), e0230850. https://doi.org/10.1371/journal.pone.0230850
  2. Kishnani, P. S., Steiner, R. D., Bali, D., Berger, K., Byrne, B. J., Case, L. E., Crowley, J. F., Downs, S., Howell, R. R., Kravitz, R. M., Mackey, J., Marsden, D., Martins, A. M., Millington, D. S., Nicolino, M., O’Grady, G., Patterson, M. C., Rapoport, D. M., Slonim, A., Spencer, C. T., … Watson, M. S. (2006). Pompe disease diagnosis and management guideline. Genetics in medicine : official journal of the American College of Medical Genetics, 8(5), 267–288. https://doi.org/10.1097/01.gim.0000218152.87434.f3

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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