The heart-wrenching case of a Lancaster family who lost two young children to a rare genetic disorder will be formally examined at an inquest next month. Two-year-old Isabelle Bowes died in September 2024, less than a year after being diagnosed with the same rare PPA2 genetic mutation that claimed the life of her three-year-old brother, Alexander, in 2021.
A Family's Double Tragedy
Dr Emily Cooper, a lecturer at the University of Central Lancashire in Preston and mother to the children, shared the devastating news on social media at the time of Isabelle's passing. 'We are devastated to say that our beautiful Isabelle died in the early hours of this morning,' she wrote. '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.'
Alexander's Unexplained Death
The family's tragedy began on Boxing Day 2021 when Alexander, who had been only 'a bit unwell,' died suddenly at just three years old. He had spent Christmas Day opening presents and dancing with his younger brother Freddie to the Masked Singer. The following day, when Dr Cooper returned from a walk with Freddie, she found emergency services outside their home. Alexander was rushed to hospital but died that evening.
For nearly two years, Alexander's death remained unexplained with few signs that anything had been wrong. Following his passing, his parents began raising awareness for the charity Sudden Unexplained Death in Childhood UK.
The Genetic Discovery
Medical investigations eventually revealed that Alexander had a rare genetic disorder known as the PPA2 mutation. Both parents, Dr Emily Cooper and Darren Bowes, were found to be carriers of the condition, meaning their other children were also at risk.
What is the PPA2 Mutation?
- A rare type of sudden arrhythmia syndrome affecting heart function
- Can cause sudden cardiac arrest, often triggered by alcohol or viral infections
- Thought to affect as few as 60 families worldwide
- More common in families with a history of heart conditions
- Symptoms can include chest pain, shortness of breath, palpitations, fainting, or seizures
Testing revealed that while Freddie and the couple's then-unborn daughter were free of the mutation, Isabelle was affected. In December 2023, Dr Cooper shared on social media: 'She is thankfully symptomless so far, & we've been told that children in families who have inherited this are affected very differently. We have to hope that she'll be one of those who largely live a normal life.'
Living with Constant Vigilance
Following Isabelle's diagnosis, the family began carrying a defibrillator at all times in case she experienced a cardiac arrest. Dr Cooper recalled the traumatic experience of Alexander's death to ITV News: 'Somebody said Alexander had had a seizure. I got to the hospital and was told my husband had done a heroic job of CPR at home, on his own, they'd managed to get his heart going again, but they just couldn't sustain it. I watched them withdraw CPR and he died.'
Community Support and Formal Proceedings
After Isabelle's death in 2024, friends of the family established a JustGiving page to support them during this unimaginable loss. The page stated: 'It is truly heartbreaking to share that Emily and her family have suffered another devastating loss with the passing of their two-year-old daughter, Isabelle. Isabelle had PPA2 deficiency, which can lead to sudden cardiac death in infants and young people. Emily also lost her three-year-old son Alexander to this in 2021.'
An inquest into Isabelle's death will be opened and adjourned at Preston Coroners' Court on March 19, approximately 18 months after her passing. The proceedings will formally examine the circumstances surrounding her death from this exceptionally rare genetic condition that has now claimed two young lives in the same family.
