Meet Swathi, a 5-year-old Malaysian Infatile-Onset Pompe patient and her parents, who have met fears and uncertainties, but hope gives them the courage to fight for Swathi’s life

Sivasangaran Kumaran did not think too much of his daughter Swathi Nisha Nair’s quirks as an infant, when she liked to stick her tongue out, make odd facial expressions, and had delayed developmental milestones. It wasn’t until she developed pneumonia at the age of six months in 2017 that Siva and his wife discovered a much deeper problem with their daughter’s health.

A chest X-ray revealed that Swathi’s heart was of abnormal size and an echocardiogram showed that her heart was only functioning at a rate of 25 per cent. Swathi’s doctor also picked up on the symptoms that her parents initially dismissed and performed a gene mutation test on her, which revealed that she had Pompe disease.

Needless to say, Swathi’s diagnosis turned her family’s life upside down. Her mother gave up her job in December 2017 to become a full-time caregiver for her daughter, who is now almost five years old.

Treatment facilities are not available in Seremban where the family resides which means they have to get up at 4am once a week to travel to Hospital Kuala Lumpur (HKL) so Swathi can undergo life-saving enzyme replacement therapy.

On top of this, she gets physiotherapy, occupational therapy, aqua therapy, and speech therapy a few times a week to help her reach developmental milestones.

Though Swathi is still non-verbal, her heart and liver functions have improved and she has managed to catch up to her physical milestones thanks to the Enzyme Replacement Therapy. In conjunction with the World Rare Disease Day 2022, MLDA, MRDS and PWS, will continue to stand in solidarity with rare disease patients and their caregivers in their battle against the disease. Together, we can do more for our patients and the community.

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