A mother has lost her two-year-old daughter to a rare genetic condition that claimed the life of her son three years ago. Dr Emily Cooper's daughter Isabelle, who carried the same gene mutation as older brother Alexander, died on Thursday. The family, from Lancaster, did not find out Alexander had the PPA2 mutation until nearly two years after his death, or that Isabelle also had it.
Dr Cooper, who works at the University of Central Lancashire (UCLAN), said her family's home was "so empty without Isabelle's beautiful thudding feet and constant chatter and giggles". In a post on X , she said she was "devastated" and "absolutely broken" and urged people to "honour [Isabelle] by living life as she did: fearlessly, joyously and spontaneously". She thanked the thousands of people who had followed her campaign for better awareness of sudden childhood death and the PPA2 deficiency, a mitochondrial disease that can cause sudden cardiac death, and those who had sent their condolences, for their "love and kindness".
She said the family was "so lost", "bereft" and "missing the soul of this house who made us all a little sillier and fun". Dr Cooper, a senior lecturer in the UCLAN school of law and policing, has also called for more research into the genetic mutation and childhood death. After Isabelle's test revealed she had the same condition as her brother, Dr Cooper said children in the same family could be "affected very differently" by PPA2.
"We have to hope that she'll be one of th.