Born in May 2021, Khang spent his first two years thriving — an active, cheerful little boy who learned to speak clearly and loved talking with everyone around him. Smart and endlessly curious, he peppers the world with questions, and delights in cars and superheroes.
In December 2023, when Khang was about two and a half years old, his family began to notice changes. He started falling more often while walking — a shift from the active, energetic toddler he had always been. Concerned, they began the long search for answers.
Khang underwent a series of tests, including screening for six inherited metabolic disorders and testing for Spinal Muscular Atrophy (SMA). None provided an explanation. His doctors ultimately recommended comprehensive genetic testing.
"After months of searching for answers, the family finally had a name for the rare disease that had begun to change Khang's life."
Following genetic analysis of a blood sample collected on September 29, 2025, Khang was diagnosed on October 30, 2025 with ASAH1-related Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME).
At the time of his diagnosis, Khang could still walk normally. Since then, he has faced recurring respiratory illness, at times needing breathing support, while his muscle weakness has gradually become more pronounced. Today, he can still grasp objects and sit independently, but standing has grown difficult and he is now almost unable to walk unaided; the muscles in his neck have weakened as well, making it harder for him to hold his head steady.
Despite these challenges, Khang remains the same cheerful, curious boy — quick to smile, quick to talk, endlessly excited by cars, superheroes, and his toys. His curiosity, intelligence, and joy continue to bring happiness to everyone around him.
Khang's family closely follows SMA-PME research developments around the world, holding on to hope that ongoing research will lead to effective treatments — so that Khang, and every child living with SMA-PME, will have the chance to grow up, play, learn, and simply enjoy being a kid.
Khang's story is not only about a rare disease. It is a story about love, perseverance, and hope — one where every new discovery, research project, and clinical trial may open the door to a brighter future for children like him.
Born. Thrives through his first two years of life — active, cheerful, and quick to talk.
First symptoms appear: increased frequency of falls while walking.
Screened for six inherited metabolic disorders and tested for SMA; results inconclusive. Referred for comprehensive genetic testing in Germany.
Blood sample collected for genetic analysis.
Diagnosed with ASAH1-related SMA-PME.
Recurring respiratory illness and episodes of breathing difficulty; progressive muscle weakness — standing becomes difficult, walking nearly impossible without assistance, neck muscles weaken.
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