Two-year-old girl with rare condition dies three years after her brother

A mum has lost her two-year-old daughter who had a rare genetic condition that claimed the life of her son three years ago.

Dr Emily Cooper, a lecturer at the University of Central Lancashire, announced the news on social media that her “fearless” daughter Isabelle died on Thursday, 19 September.

Both children had PPA2 deficiency, which can lead to sudden cardiac death in infants and young people.

The parents did not find out their three-year-old son Alexander, who died in 2021, had the gene mutation until nearly two years after his death.

Dr Cooper said she feels "lost" without Isabelle and her family's home is "so empty" without her "beautiful thudding feet and constant chatter and giggles".

In a statement she said: "We are devastated to say that our beautiful Isabelle died in the early hours of this morning.

"We are absolutely broken. However, we want you all not to think of her death, but to honour her by living life as she did: fearlessly, joyously and spontaneously."

After Alexander's death on Boxing Day 2021, the family undertook genetic testing and discovered Isabelle had inherited the same faulty gene as her brother.

Since then, the mother-of-four, from Lancaster, has raised awareness of the condition, using her skills and lived experience to help others in the same position.

A fundraiser in memory of Isabelle has raised more than £30,000 to "pay for essentials such as meals, help with household necessities and Isabelle's funeral."

Friends of the family are also raising money to replace Alexander's headstone for one which includes Isabelle's name too.

"All of this is really incomprehensible, so any help will go a long way", the fundraiser says.

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