Devastated UK family mourns loss of two-year-old Isabelle to rare genetic disorder


A mother is “absolutely broken” following the death of her two-year-old daughter, Isabelle Cooper, from a rare genetic condition that also claimed the life of her three-year-old son, Alexander. Isabelle passed away early Thursday morning after being diagnosed with the same genetic disorder as her brother.

Dr Emily Cooper, a lecturer at the University of Central Lancashire, shared with The Telegraph how Alexander’s death had remained “unexplained” for nearly two years until doctors identified the PPA2 mutation, inherited from both parents, Emily and Darren Bowes. This mutation poses a risk to their other three children.

The condition, classified as a type of Sudden Arrhythmia Death Syndrome (SADS), can lead to sudden cardiac death in otherwise healthy young individuals. After genetic testing, it was confirmed that Isabelle carried the gene, while their other children, Freddie and a yet-unborn daughter, were free of the condition.

In a poignant post on X (formerly Twitter), Dr. Cooper announced Isabelle’s passing, stating, “We are broken. However, we want you all not to think of her death, but to honour her by living life as she did: fearlessly, joyously & spontaneously.” She shared a picture of Isabelle enjoying an ice cream, urging others to cherish life as her daughter did.



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