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A mother went for three agonizing years before she discovered the truth about her child’s condition. After being unable to hold down food, the girl was diagnosed with reflux. The girl continued to have problems including failure to achieve developmental milestones. A doctor then diagnosed her with cerebral palsy due to brain calcification. She was eventually diagnosed with a genetic disorder called Cockayne Syndrome – a disease that causes premature aging. The girl died before she turned 6. The mother had another child who died of the same condition at roughly the same age. A third child was born without the condition.
Source: summary of medical news story as reported by The Clarion-Ledger
About: Rare genetic disorder misdiagnosed for three years
Date: 23 August 2004
Source: The Clarion-Ledger
Author: Jerry Mitchell
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