Mum loses daughter to rare PPA2 genetic condition, following son's death from the same illness

Dr Emily Cooper discovered after her son Alexander's death that both he and her daughter Isabelle carried the PPA2 mutation, which can lead to sudden cardiac death.

Announcing the news on X, heartbroken Dr Cooper said: “We are devastated to say that our beautiful Isabelle died in the early hours of this morning (September 19). 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 & spontaneously.”

The senior lecturer at the University of Central Lancashire (UCLan), shared that their home feels "so empty without Isabelle's beautiful thudding feet and constant chatter and giggles."

In a separate post on X, she wrote: “Our beauty, our sunshine in the darkest times. You spent so many happy times loving our new garden. Our new house is so empty without your beautiful thudding feet and constant chatter and giggles. I can't bear your empty bedroom, finished only a month ago. I'm just so lost.“

The PPA2 mutation is associated with a genetic condition known as mitochondrial disease. Specifically, it affects the body's ability to produce energy in cells, primarily impacting organs that require high energy levels, such as the heart and brain.

Following Isabelle's testing, which revealed she had the same condition as her brother, Dr Cooper highlighted that children in the same family can be "affected very differently" by PPA2. She had hoped that Isabelle would be one of those who could lead a largely normal life, saying, “We have to hope that she'll be one of those.”

Dr Cooper carried a defibrillator provided by the Oliver King Foundation, established in memory of a 12-year-old boy who died of sudden arrhythmic death syndrome in 2011. In light of Isabelle's passing, friends have set up a fundraising page that has raised over £36,000 to support the family.

Sarah Kingston, a fellow UCLan academic and close friend, described Isabelle as "a ray of sunshine" and said that "no family should face this immeasurable pain twice." She added: "They're overwhelmed by grief," highlighting the community’s incredible response to the fundraiser.

Another colleague, Laura Hunt, said: “How much can one family be expected to cope with? Losing one child and knowing there is a potential risk to the other… it’s more than anyone should ever have to deal with."