Toddler, two, dies of rare genetic condition that killed her brother

A two-year-old with a rare genetic condition has died just three years after the same disease killed her three-year-old brother. 

Isabelle Cooper passed away on Thursday, a year after she was found to have the same type of genetic heart disorder as her brother Alexander, who also died as a result of the condition on Boxing Day 2021. 

Her mother Dr Emily Cooper, a lecturer at the University of Central Lancashire, announced the tragic news on X, saying her family was 'devastated' and 'absolutely broken' over the death of 'our beautiful Isabelle'. 

The now mother-of-two has previously revealed how she was unaware of Alexander's condition until two years after his death. 

She later found out that Isabelle had the same disorder, known as the PPA2 mutation, and that her and Isabelle's father Darren Bowes were both carriers. 

Writing on X on Thursday, Dr Cooper said: 'We are devastated to say that our beautiful Isabelle died in the early hours of this morning. We are absolutely broken. 

What is the PPA2 mutation?

The PPA2 mutation is a rare type of sudden arrhythmia syndrome. 

It is a heart related mutation that cause  a sudden cardiac arrest, often triggered by drinking alcohol or a viral infection.

 It is thought to affect as few as 60 families worldwide and is more common in families with a history of the heart condition. 

Symptoms of the disease can include chest pain, shortness of breath, palpitations, fainting or seizures.

Source: SADS Foundation

'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 heartbroken mother previously told ITV News about Alexander's tragic death in 2021 and how they were subsequently told about the disorder he had suffered from. 

She said Alexander had been suffering from a mild stomach bug on Christmas Day, but by Boxing Day, they though he recovered from it. 

Dr Cooper then decided to go on a walk with her other son but when she returned home, there were police cars outside her house and she realised something was terribly wrong. 

She told 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.'

It was only two years after Alexander's death that Dr Cooper and her family were told that he had been suffering from the rare heart disorder. 

They underwent tests that showed Isabelle had inherited the same faulty gene, while Alexander's brother Freddie and her then unborn daughter were unaffected. 

Dr Cooper had began carrying around a defibrillator at all times in case Isabelle ever had a cardiac arrest.  

Friends of the family have set up a JustGiving page following Isabelle's death, asking for any donations to help support them. 

The page reads: '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.'