Gloria's happiness: the gene of dilated cardiomyopathy was not passed on to children
by Laura D'Ettole
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".
Gloria, 43, lives in Arezzo and is involved in training in schools. Behind him he has a story that has always involved his family. In 1997 his father, only 42 years old, underwent a heart transplant after a long illness that had reduced him "in extreme conditions". Even the grandfather had died of a heart disease which, given the time, they had not been able to give a name and surname. Even the aunts.
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.
“Ever since I learned that the disease could manifest itself, I decided not to think about it. I was sure that I would not have reached my father's condition, given the progress 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 was taking the drugs”. But sometimes a lonely and distant thought took over: "If I went to bed and no one was there, I said to myself: in the morning I might not wake up anymore".
The turning point came a few months ago when they advised her to insert a subcutaneous defibrillator. “Many experience this passage with drama, but for me it was the opposite. It is important to think that there is something that intervenes and saves your life ”. Gloria regains a new psychological balance, but her anxieties are not over. “My two children, Elia and Teresa, underwent continuous cardiological checks with always negative results”. The genetic investigation, according to the pediatrician, could wait until the age of 20. But chance, and Elijah's inclination, change the cards on the table. The boy decides to devote himself to rugby, a sport that is certainly not light. In this case, identifying in time the existence of the gene responsible for so many deaths in the family could save his life.
Gloria and her husband decide to have both children undergo a genetic test. The result is liberating. The chain of familial cardiomyopathy has broken. Gloria's happiness is irrepressible, and her optimism is also reflected in her current condition: "Medicine is making great strides now and I feel like looking forward with hope because I am sure that transplantation is not the only thing in our future".