Kuala Lumpur, April 25: In Malaysia, Pompe disease, a rare genetic disorder marked by enzyme deficiency, affects only 17 individuals but poses significant challenges for them and their families.
This condition leads to severe muscle weakness and other debilitating symptoms due to the accumulation of glycogen.
Dr. Ngu Lock Hock, a Clinical Geneticist & Paediatrician, emphasizes the global impact of rare diseases, affecting around 300 million people worldwide, and stresses the importance of recognizing and diagnosing conditions like Pompe disease early in life.
Parents, such as Mr. Lee Yee Seng, whose daughters suffer from Pompe, face the difficult task of identifying early symptoms like severe muscle weakness, breathing difficulties, and swallowing issues, which can significantly benefit from prompt medical attention. “Identifying these symptoms early is paramount, as prompt diagnosis and intervention can significantly impact disease progression,” says Dr. Ngu.
To diagnose Pompe disease, healthcare professionals use enzymatic, genetic, and genomic testing to detect deficiencies in the GAA enzyme and mutations in the GAA gene. Early detection methods such as Dried Blood Spot (DBS) testing and newborn screening programs are crucial for timely intervention.
However, the rarity of Pompe disease complicates diagnosis and treatment in Malaysia, where only a few specialists are equipped to handle such rare conditions. Dr. Ngu points out the challenges in raising awareness among healthcare professionals and the often long and frustrating journey towards a correct diagnosis.
The financial aspect of treating Pompe disease adds another layer of difficulty. “Enzyme Replacement Therapy (ERT), the primary treatment for Pompe disease, comes at a substantial cost, ranging from several thousand ringgit per month to RM500,000 per year,” Dr. Ngu explains. This significant financial burden is exacerbated by the cost of supportive therapies needed for holistic disease management.
Despite these challenges, there are stories of resilience and advocacy, such as those led by Mr. Lee through the Malaysia Lysosomal Diseases Association (MLDA). This organization provides crucial support to families, helping them navigate the complexities of the disease and connect with a community of those facing similar struggles.
Efforts are ongoing to improve the situation, with the Ministry of Health developing a rare disease policy to enhance treatment access and funding. This includes training for healthcare workers to better recognize symptoms of rare diseases and expanding newborn screening to detect conditions like Pompe disease earlier.
For anyone concerned about rare diseases, consulting a doctor for a referral to a specialist is advised. Further information and support can be found through the Malaysia Lysosomal Diseases Association at www.mymlda.com.
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