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UK Mother Who Lost Husband and Son to Rare Alagille Syndrome Leads Awareness Push

She urges earlier genetic screening after clinicians initially dismissed her concerns.

Overview

  • Amber Selvey says her husband, Jason, died in 2017 from sudden cardiac failure after mild cold-like symptoms, and her son, Daniel, died six years later in similar circumstances.
  • The family’s diagnoses confirmed Alagille syndrome linked to JAG1 gene mutations, which can affect the liver and heart and presents with highly variable symptoms.
  • Johns Hopkins Medicine estimates the condition affects about one in 70,000 newborns, and fewer than 180 cases had been identified in the UK when the family was diagnosed.
  • Two of Selvey’s other children required heart surgeries to widen arteries and repair holes, and she reports they are generally doing well.
  • Selvey has joined the Alagille Society in the United States and runs a bereavement support group for parents as part of her campaign to raise awareness.