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

A Call to Pledge Your Organs to a Noble Cause

WORDS DR MOHAMAD ZAIMI ABDUL WAHAB

FEATURED EXPERT
DR MOHAMAD ZAIMI ABDUL WAHAB
Vice President
Malaysian Society of Transplantation
THE URGENT NEED FOR KIDNEY DONORS
  • Malaysia has an estimated number of 48,000 patients on dialysis and awaiting kidney transplant.
  • Each patient has an average waiting period of 13 years to get a transplant done due to the low donation rate.
  • A scoring system is put in place because of this and with it, only about 10,000 patients are eligible to receive a kidney from a deceased donor.

The current statistics of organ donation and organ transplant could be even better if many stepped forward to help advocate this cause.

Although a 2% rise was seen since 2020 with 77 transplants conducted from 16 deceased donors this year, the numbers could certainly get better.

WILL ORGAN DONATION LEAD TO MUTILATION OF THE DECEASED’S BODY?

The permissibility of organ transplant has been a cause for concern and a challenge in changing mindsets.

While most religions in Malaysia encourage organ donation, some beliefs like Jehovah’s Witness and Shinto do not permit organ donation.

Based on the statistics provided by the National Transplant Resource Centre (NTRC), bodily mutilation and the lack of knowledge as to what the deceased would have wanted are two of the most common reasons why families refused to give consent for organ donations from a deceased.

Mutilation of the deceased body is a misconception.

In order to successfully conduct a transplant, the deceased would also have to undergo a surgery similar to that of the living.

This procedure is done in the very best of manner to preserve the anatomy of the deceased so that no obvious disfigurement is seen after the retrieval process.

HAVE YOU PLEDGED TO BE AN ORGAN DONOR? HERE’S WHY YOU SHOULD
  • The self-satisfaction you can get in stepping forward to do an altruistic act through this pledge either for their loved ones, or any recipient in need.
  • Discovery of your risk of developing certain diseases or any undiagnosed diseases during the process of being a potential donor. You have the benefit of getting diagnosis and management earlier depending on their case if they are found to have something concerning.

So, have you asked yourself if you have the courage to pledge your kidney for the support of another and to give a fuller life to a patient with kidney failure? If you have done so, kudos to you, but if you have not, ask yourself what is stopping you and address those doubts scientifically.

Have the courage; make a pledge to be an organ donor now via your MySejahtera app.