September 21st 2024.
A family is grieving the loss of their young daughter, Isabelle, who tragically passed away at the age of two. Isabelle's brother, Alexander, had also passed away three years prior due to the same rare genetic disease. Their mother, Dr. Emily Cooper, shared that their family is heartbroken over the death of their beloved daughter.
Dr. Cooper, who is a lecturer at the University of Central Lancashire, had no idea that Alexander had the condition until two years after his death. It wasn't until then that she found out that Isabelle also had the same disorder, and that she and her partner, Darren Bowes, were both carriers. Dr. Cooper spoke to the media, expressing their devastation over Isabelle's passing, saying, "We are absolutely broken."
She also shared a message from their family, asking people to remember Isabelle by living life fearlessly, joyously, and spontaneously. Isabelle's passing came as a shock to their family, as she seemed healthy and full of life. Last year, Dr. Cooper appeared on ITV news, where she shared that Alexander had been feeling unwell on Christmas Day but seemed to have recovered. However, when they returned home from a walk, there were police cars in front of their house. It was then that they found out Alexander had had a seizure and passed away.
Dr. Cooper recalled the heartbreaking moment of watching the medical team try to revive her son, but ultimately, they couldn't save him. It wasn't until two years later that they received the news that Alexander had the rare heart disorder. The family was devastated, and it took a toll on them. Despite their grief, they continued to live each day with love and joy, honoring their son's memory.
After conducting tests, it was revealed that Isabelle had inherited the same gene from her parents. Fortunately, their other two children were unaffected. Dr. Cooper shared that she now carries a defibrillator with her in case Isabelle goes into cardiac arrest. The PPA2 mutation is a rare type of sudden arrhythmia syndrome, which can cause sudden cardiac death, often triggered by drinking alcohol or a viral infection. It is a heart-related mutation that affects as few as 60 families worldwide and is more common in families with a history of the disease.
Symptoms of the PPA2 mutation can include chest pain, shortness of breath, palpitations, fainting, or seizures. To support the Cooper family during this trying time, their friends have set up a GoFundMe page, which has raised over £24,000. The message on 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." It is a difficult time for the family, but they are grateful for the outpouring of love and support from their community.
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