It was a late afternoon in January 2021 when Gloria Capecchi receives a message on her cell phone that leaves her incredulous with happiness. The words did not come out, she could not say it to her husband: her two children, Elijah and Teresa, aged 15 and 10, did not have any mutated genes. The dilated cardiomyopathy that had affected her family for generations had come full circle, had run out with her. "All those days spent with the sense of guilt, the anguish of having passed on to my children a problematic future vanished in a flash".
The mutated gene
Gloria and Lorenzo, the younger brother of eight, have not had any symptoms for a long time. In spite of the continuous investigations, nothing appeared to be pathological. But the time for genetic investigation arrives. "About ten years ago the gene responsible for our father's disease was identified and some time later they went to look for it in my brother and me". Unfortunately the mutated gene was there, they had it too. There was a 50% chance of developing the disease. And shortly after, Gloria was 36 then, the first symptoms appear. Both brothers begin to experience the first cardiac arrhythmias, but it doesn't stop there. Gloria's left ventricle begins to enlarge.
The thorn in the finger
“Ever since I learned the disease could manifest itself, I decided not to think about it. I was certain I wouldn't end up in the same situation as my father, given the advances in medical and pharmacological knowledge.” Yet this constant thought accompanied her: “It was like a thorn in a finger, sometimes you feel it more, other times less.” Then the arrhythmias: “I felt calm, I took the medications.” But sometimes a lonely, distant thought took over: “If I went to bed and there was no one there, I told myself: tomorrow morning I might not wake up again.”
The turning point: the defibrillator that saves lives
The turning point came a few months ago when she was advised to have a subcutaneous defibrillator inserted. "Many people experience this transition as dramatic, but for me it was the opposite. It's important to think that there is something that intervenes and saves your life.Gloria regains a new psychological balance, but her worries aren't over. "My two children, Elia and Teresa, have undergone continuous heart checks with consistently negative results." The genetic test, according to the pediatrician, could have waited until they were 20. But chance, and Elia's inclination, changed the game. The boy decided to devote himself to rugby, a sport that was certainly not easy. In this case, identifying the gene responsible for so many deaths in the family in time could have saved his life.
The greatest gift: the broken chain
Gloria and her husband decide to have both their children genetically tested. The results are liberating. The chain of familial cardiomyopathy has been brokenGloria's happiness is uncontainable, and her optimism is also reflected in her current condition: "Medicine is making giant strides now, and I feel like I can look forward with hope because I'm certain that transplants aren't the only thing in our future."
