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Two-year-old toddler dies of rare genetic disease that also killed her three-year-old brother – mother is 'devastated' and 'utterly devastated'

Two-year-old toddler dies of rare genetic disease that also killed her three-year-old brother – mother is 'devastated' and 'utterly devastated'

A two-year-old girl with a rare genetic disorder has died, just three years after her three-year-old brother died from the same disease.

Isabelle Cooper died on Thursday, a year after she was diagnosed with the same type of genetic heart disease as her brother Alexander, who also died from complications of the disease 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 “utterly devastated” by the death of “our beautiful Isabelle”.

The now mother of two previously announced that she only learned of Alexander's condition two years after his death.

She later discovered that Isabelle suffered from the same disorder, called the PPA2 mutation, and that she and Isabelle's father, Darren Bowes, were both carriers of the disease.

Two-year-old Isabelle Cooper, who suffered from a rare genetic disorder, died just three years after the same disease claimed the life of her three-year-old brother

Isabelle Cooper died on Thursday, a year after she was diagnosed with the same genetic heart condition as her brother Alexander (pictured together).

Isabelle Cooper died on Thursday, a year after she was diagnosed with the same genetic heart condition as her brother Alexander (pictured together).

Her mother Dr Emily Cooper (pictured with Isabelle) announced the tragic news on X, saying her family was

Her mother Dr Emily Cooper (pictured with Isabelle) announced the tragic news on X, saying her family was “devastated” and “completely shattered” by the death of “our beautiful Isabelle”.

Dr Cooper wrote on X on Thursday: “We are devastated to say that our beautiful Isabelle passed away in the early hours of this morning. We are absolutely devastated.”

What is the PPA2 mutation?

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

It is a mutation related to the heart that causes sudden cardiac arrest, often triggered by alcohol consumption or a viral infection.

It is estimated that only about 60 families worldwide are affected, with the disease occurring more frequently in families with a history of heart disease.

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

Source: SADS Foundation

“However, we want all of you to not think about her death, but to honor her by living your life as she did: fearlessly, joyfully and spontaneously.”

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

She said Alexander had suffered from a mild bout of stomach flu on Christmas Day, but she believed he had recovered by Boxing Day.

Dr. Cooper then decided to take her other son for a walk, but when she got home there were police cars in front of her house and she realized something was very wrong.

She told ITV News: “Someone said Alexander had had a seizure.”

“I arrived at the hospital and was told that my husband had performed heroic CPR at home. They had managed to get his heart beating again on their own, but they just couldn't keep it going.

“I saw them stop CPR and he died.”

It was not until two years after Alexander's death that Dr. Cooper and her family learned that he had suffered from this rare heart disease.

Only two years after Alexander's death did Dr. Cooper discover that Isabelle (pictured) suffered from the same disease

Only two years after Alexander's death did Dr. Cooper discover that Isabelle (pictured) suffered from the same disease

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

Dr. Cooper had begun carrying a defibrillator with him at all times in case Isabelle ever suffered a cardiac arrest.

Friends of the family have set up a JustGiving page following Isabelle's death and are asking for donations to support her.

The page states: “It is truly heartbreaking to announce that Emily and her family have suffered another devastating loss with the death of their two-year-old daughter Isabelle.”

“Isabelle suffered from a PPA2 deficiency, which can lead to sudden cardiac death in infants and adolescents. Emily also lost her three-year-old son Alexander to it in 2021.”

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