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Life-Limiting Disease Missed Until Spleen Grew Huge
8 Apr
Summary
- Noah's parents raised concerns for two years before diagnosis.
- A doctor discovered Noah's spleen was the size of an adult's.
- Niemann-Pick Disease Type C1 is an ultra-rare, life-limiting disorder.
Born in October 2022, Noah Lewis's early life was marked by a concerning medical journey that spanned two years before a definitive diagnosis. His parents, Ben and Natalie Lewis, repeatedly voiced worries about his development and health, including feeding issues, restricted movements, and low muscle tone. They were advised by physicians to wait for further investigations, with reassurances that developmental delays could resolve on their own.
Noah's condition worsened, leading to repeated infections and a loss of his ability to crawl. A significant turning point occurred in July 2024 during a routine check-up when a doctor discovered Noah had an enlarged spleen, the size of an adult's. This alarming finding prompted urgent testing.
In September 2024, the results confirmed Noah has Niemann-Pick Disease Type C1, an ultra-rare and life-limiting genetic disorder that progressively damages the brain, nerves, and vital organs. The family is now focused on fundraising to provide Noah with essential therapies and equipment not readily available through the NHS, aiming to give him the best possible quality of life.
