Mother ‘absolutely broken’ after second child dies from rare genetic disorder

Isabelle Cooper passed away early on Thursday morning
Dr Emily Cooper with daughter Isabelle, who died early on Thursday morning - X

A mother is “absolutely broken” following the death of her two-year-old daughter from a rare genetic condition that also killed her son.

Isabelle Cooper died in the early hours of Thursday morning after being diagnosed with the same rare genetic disorder as Alexander, her three-year-old brother.

Her mother, Dr Emily Cooper, a lecturer at the University of Central Lancashire, previously revealed how Alexander’s death had been “unexplained” for almost two years before doctors discovered he had a rare genetic disorder.

Alexander had the PPA2 mutation, of which both his mother and father Darren Bowes were carriers, and doctors said it meant their other three children were also at risk of having the disorder.

The condition is a type of Sudden Arrhythmia Death Syndrome (SADS), which are genetic heart disorders that can cause sudden death in young – apparently healthy – people and children.

Dr Emily Cooper and her family have paid tribute to their 'beautiful' daughter
Dr Emily Cooper and her family have paid tribute to their ‘beautiful’ daughter - X

Dr Cooper was pregnant when she found out that son Freddie and the couple’s unborn daughter were both free of the condition – but Isabelle was affected.

In an emotional thread on X, formerly Twitter, Dr Cooper said her family were devastated to reveal that Isabelle had now died of the condition.

“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.”

Posting a picture of her daughter smiling with an ice cream, she added “like her gorgeous biggest brother, with an ice lolly whenever you fancy” with a heartbreak emoji.

Alexander, the couple's three-year-old son had died of the same heart disorder in 2021
Alexander, the couple’s three-year-old son had died of the same heart disorder in 2021 - X

Friends are now raising money to support the family and wrote on a JustGiving page: “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.”

The family have previously told of their heartbreak at Alexander’s sudden death from a cardiac arrest. Speaking after finding out he had the disorder, Dr Cooper said: “After all this time there’s something to explain: what happened to our lovely boy.

“The gene mutation – you sort of naturally assume it’s only something that would have happened to him.

“But as the call went on, I realised it’s actually a recessive inherited condition, and I realised that oh no, it was a recessive that the other children are at risk.”

Genetic testing later revealed Isabelle carried the gene as Alexander
Genetic testing later revealed Isabelle carried the gene as Alexander - X

Genetic testing later revealed Isabelle carried the gene, but Freddie and her then unborn daughter were unaffected.

The family carried a defibrillator with them after learning of Isabelle’s condition and Dr Cooper had previously told ITV about Alexander’s death.

She revealed that he had complained of a stomach bug on Christmas Day but appeared to recover by Boxing Day. However, she took her other son out for a walk and returned home in shock to see ambulances in their driveway.

She said: “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.”

The family were in “disbelief” as their little boy had displayed no symptoms of any illness before his passing.

After discovering his condition, they have been raising awareness about the rare disorder and called for access to genetic testing to avoid going through the same trauma.

Although symptoms of SADS vary somewhat among the different types, common symptoms include: chest pain, shortness of breath, palpitations, fainting or seizures, and having a family history of the heart condition.

Treatments vary depending on the type of sudden arrhythmic death syndrome.