Two-Year-Old Girl Dies from Rare Genetic Disorder
Two-Year-Old Girl Dies from Rare Genetic Disorder

Two-Year-Old Girl Dies from Rare Genetic Disorder

News summary

Dr. Emily Cooper's two-year-old daughter, Isabelle, has died from a rare genetic condition known as the PPA2 mutation, which also claimed the life of her three-year-old brother, Alexander, three years prior. The family only discovered Alexander's condition nearly two years after his death, and tests later revealed that Isabelle inherited the same disorder, a type of Sudden Arrhythmia Death Syndrome (SADS). Dr. Cooper expressed her devastation on social media, urging others to honor Isabelle by living joyously, and thanked those supporting her family's awareness campaign for sudden childhood death. Following the news, friends initiated fundraising efforts, raising over £30,000 to assist the family during this difficult time. The PPA2 mutation poses risks to other siblings, although tests confirmed that two of their other children are unaffected.

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58 days ago
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