Can you tell us the story of your daughter Marianna?
Marianna was diagnosed with hypertrophic cardiomyopathy at birth. She was treated at Gaslini Hospital until 2022 by a doctor who had seen her birth. When he retired, the new doctors, unfamiliar with her case, conducted more in-depth investigations and immediately grasped the complexity of the situation.
Almost immediately, after an initial change in treatment, they discussed implanting a subcutaneous defibrillator. Our reaction wasn't positive: Marianna was 19 or 20 years old, and no one had ever spoken to us about the risk of cardiac arrest and sudden death. This scared us greatly, especially my daughter, who, despite everything, is living a full life.
Almost immediately, after an initial change in treatment, they discussed implanting a subcutaneous defibrillator. Our reaction wasn't positive: Marianna was 19 or 20 years old, and no one had ever spoken to us about the risk of cardiac arrest and sudden death. This scared us greatly, especially my daughter, who, despite everything, is living a full life.
No one had ever told us about the risk of cardiac arrest and sudden death. It scared us a lot.
How did you come into contact with AICARM?
Luckily, and I can only speak of luck, in October-November 2023, while searching online for information about Marianna's medications, I discovered through AICARM that Nadolol, the drug she had just been prescribed, had disappeared from the market. No one had told me: not the doctor, not the pharmacist, not the hospital; I discovered it online. From there, I started following AICARM: I contribute with my 5×1000 tax return, I make a small donation every year, and I take all the online courses. While following AICARM, I saw that they were organizing cardiopulmonary resuscitation courses. I'd never been able to attend in Florence—we're from Genoa—but I understood the importance and took action on my own. I contacted Francesca Spairani of BLSD Liguria, an instructor whom I want to thank for her extremely helpful approach. Marianna's father and I attended.
What did you learn from the course?
In the theoretical part, they give you the timeframe: it's important to intervene within the first five minutes, otherwise the rest is wasted. Ambulances arrive after 15-20 minutes, and we also live in a hard-to-reach area. I thought: okay, I'm at home, but if I don't have a defibrillator, what do I do? Still on my own, I asked Francesca—the CPR course instructor—if she could help me purchase a defibrillator, and thanks to her, we did. Meanwhile, Marianna was treated for two years at Meyer Hospital in Florence by Professor Olivotto.
How did the journey in Florence continue?
At first, everything was fine, but then, at my last visit in October 2025, they also mentioned a defibrillator. They told me that the new literature suggests that cardiomyopathies associated with rare diseases—Marianna also has Noonan syndrome—carry a significant risk. We've started the testing process, because they'd already tried it at Gaslini Hospital in 2022, but she wasn't eligible for a subcutaneous defibrillator.
And what happened then?
Two Fridays ago, luckily I had just arrived from work. Marianna was very calm on the couch watching a series. I was in the kitchen, fortunately in adjacent rooms, without doors. I heard a noise, a strange breathing, then I felt her fall to the floor. I arrived immediately, saw her on the floor, and somehow, I didn't think of anything else: I grabbed the defibrillator, connected it, and it discharged. It was fortunate that everything went well. She was hospitalized at Gaslini Hospital for two weeks and now they've implanted the subcutaneous defibrillator. The operation went well, and she's also taken it quite well psychologically. The situation has changed: before she said, "I don't know, I don't want to, I'm afraid it will change my life," now she says, "Yes, I'm a little scared, but I want to be protected."
How was the experience of the two weeks in the hospital?
Devastating. Devastating because things aren't being said in the right way. I realize it's not easy for doctors to open up to patients, but from a mother's perspective, it's crucial to be given the right information, in the right way, and above all, to have a vision for the future. You can't leave a 22-year-old girl there for a week and then everything changes in her life, even if something serious has happened. For a teenager, the perception is different than for other age groups.
What role did AICARM have for you?
AICARM does a wonderful job, providing a wealth of information; every time I was in crisis, I called them. My only real source of help is AICARM; I'm infinitely grateful. Aside from that incident, I probably wouldn't have taken the course or bought the defibrillator because no one ever told me. They gave me advice on nutrition, physical activity—a little bit of everything. This ability to listen is extremely important.
Without AICARM, I probably wouldn't have taken the course and I wouldn't have bought the defibrillator because nobody ever told me.
Is Marianna thinking of seeing a psychologist too?
Yes, but let's start with AICARM first, as they're professionals who know what we're talking about, rather than choosing randomly because maybe a friend goes there. She said absolutely yes to this too. Support is truly essential. Doctors should know that associations like this exist, especially if you specialize in these heart conditions. We need to listen more; I understand that doctors can't listen to all patients and parents as the person concerned demands. Writing emails, making phone calls, and not receiving a response in cases like this is devastating and leaves people feeling destabilized. Speaking of the psychological aspect, if I get anxious, my daughter follows suit.
How are you now?
I'm the same as Marianna. She's doing well overall, has a solid character, impressive strength. She had two or three days of pain, but now that she sees she can do things, she's doing well; after all, the surgery was only done last Tuesday. It bothers her, yes, but she has this ability to regroup mentally. Her thought is: "The important thing is that I don't have to give up on things; theater is important to me above all else." She's been fortunate to meet wonderful people who welcomed her right away.
What message do you want to convey?
Not everyone has the same tools; someone needs to be able to lend a hand on the psychological aspect, which is crucial. It's important to receive the right information, not to feel overwhelmed by the fact that a person, in this case my daughter, is at risk of sudden death. The human aspect must be taken into consideration. I'm always grateful that associations like AICARM exist, with their level of expertise; I know that if I need help, I'll call them. And that's incredibly important.
