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Over 13,000 children with rare diseases treated at MOH facilities
Published on: Tuesday, February 27, 2024
Published on: Tue, Feb 27, 2024
By: Bernama
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Over 13,000 children with rare diseases treated at MOH facilities
For illustrative purposes only. - depositphotos
KUALA LUMPUR: The Kuala Lumpur Hospital's Department of Genetics reported that as of January last year, a total of 13,036 children with rare diseases had been treated at facilities under the Ministry of Health (MOH).

Universiti Sains Malaysia Paediatrics and Medical Genetics senior consultant Dr Zilfalil Alwi said MOH categorises these conditions as ‘rare’ diseases, which pose a threat to lives and result in chronic disabilities.

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He said that mutations in the patients' genetic makeup are the cause of these rare diseases, and the likelihood of them occurring in Malaysia is approximately one case in 4,000 individuals.

“So far, there are 491 cases of rare diseases listed in the Malaysian Rare Disease List issued by the MOH, which include conditions such as chromosomal abnormalities, genetic syndromes, metabolic disorders present at birth, Lysosomal storage disorders and systemic disorders."

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He said this when appearing as a guest on Bernama TV’s "Apa Khabar Malaysia" programme today.

Dr. Zilfalil said the disease could result from a deficiency of specific enzymes crucial for body metabolism, as well as from chromosomal problems and genetic factors.

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“Rare diseases pose challenges in early detection due to insufficient information about them, making the diagnosis process for patients more complex," he said.

Meanwhile, Mas Hazirah Saifuddin, the Founder of Luth Foundation, announced that in observance of Rare Disease Day, which falls on the last day of February, the foundation will offer 100 free screening tests for newborns tomorrow (Feb 28) at Bangunan Plaza, Universiti Malaya Medical Centre.

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Mas Hazirah said the foundation was established to promptly raise funds for the medical treatment of children with rare diseases in Malaysia, as it often requires a high and immediate cost to save their lives.

“I am the mother of Mas Muhammad Luth, who died on June 28, 2023, after  battling a rare disease. We faced the harsh reality of needing urgent financial aid to afford the treatments that could have prolonged his precious life," she said.
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