02/03/2026
On February 28, Rare Disease Day brought renewed attention to the two million people living in Italy with one of the 7,000 identified genetic disorders—some of which now have a name and a therapy. Rare patients, each with their own story. Here is that of a 21-year-old from Lombardy, full of life and questions.
“I have SPG4, which isn’t a PlayStation model and is certainly less fun, but I live with it—it’s my normal.”
Twenty-one years old, with a soft “r” and striking looks, Edoardo has Spastic Paraplegia Type 4 (SPG4), a rare genetic disorder characterized by stiffness and muscle weakness in the lower limbs that can significantly affect mobility. Rare Disease Day has once again shone a spotlight on “rare patients” like him.
A testimonial for FONDAZIONE TELETHONFondazione Telethon, Edoardo receives rehabilitation care at the IRCCS Eugenio Medea – La Nostra Famiglia in Bosisio Parini (Lecco), a Lombardy referral center for rare diseases.
We meet at the Pia Grande swimming pool in Monza, where he trains with the Paralympic team ASD Silvia Tremolada. “I still need practice speaking and would like to improve my vocabulary. I’m too shy or insecure—I need to figure out which.” Without a doubt, Edoardo has a remarkable capacity for reflection and introspection—after all, he’s in his second year studying Psychology.
Edoardo, what’s your personality like?
Right now, I’m calm and peaceful. I like listening to people and observing others—that’s why I chose to study psychology. In sports, I’m always eager, maybe a bit too much. I should slow down, because in life, as in everything, it’s better to go step by step.
How do others look at you?
Young people are more open than older ones; they’re more inclusive, they look beyond what I have and understand that I can do many things—if not almost everything—just with more difficulty. What I can’t stand is when people stare at me and say, “I’m sorry.” Sorry for what? What do they know? I might live better than they do. Let me explain: at first it wasn’t easy, but little by little paraplegia became my normality. It’s part of my daily life, and I’ll live with it forever. It certainly doesn’t deprive me of the emotions, feelings, and experiences others have—if anything, it can give me a lot. I think any impactful experience changes you, and if you get through the down moment, you can only appreciate and be grateful for everything that happened.
What was your “down” moment?
After finishing high school, I had ten terrible months. I was confused and stayed in my room all day in front of the computer.
Then what happened? What made you turn things around?
Definitely swimming. My mom had already given me a push—she sent me on vacation with a friend, then to Lucca Comics and the ATP Finals. My family—my sister Margherita and my dad Tommaso—always supported me. I realized that you can do it, you can come out of your shell. The problem is that when I walk out the door—especially in Milan—I find barriers everywhere: stairs, missing elevators. It’s as if the outside world tells me, “Go back home.” Then, thanks to a friend, Maria Pia, we found the Tremolada competitive team. And that’s when my life changed.
Do you feel different now?
Absolutely! I was a teenager, with everything that comes with that. Now, thanks to swimming, I’m becoming calm and centered again. I also go to schools to talk to children about my experience. They’re very shy but curious, especially about the competitive side. I tell them about the thrill of racing, the desire to push yourself and do more. In life, you need a goal—it helps with everything else. Swimming is my motivation.
Do you have many friends?
Let’s say I have room for improvement. I don’t know if I’d call myself individualistic, but I think the hardest thing is being happy with yourself. Often, others create unnecessary problems. I feel comfortable with people similar to me, who’ve gone through difficult life experiences. I’m not only referring to illness, but also to those “down” periods that, sooner or later, we all go through.
How do you see your future?
I don’t know. I’d like to do something that combines what I’m studying with sports. For now, though, I live more in the present.
Do you like your life?
I consider myself quite lucky. I spent two weeks alone in Liverpool, I’ve been on television, I’ve traveled and done things some people may never do in a lifetime—experiences that taught me a lot, journeys of introspection, special encounters. But there are others worse off than me who aren’t independent. That’s why research is important: it can improve the quality of life for so many people.
According to specialist Maria Grazia D’Angelo, “When it comes to rare diseases, the key is collaboration. A rare disease affects every area of a person’s life—especially when we’re talking about a child.” D’Angelo heads the Specialized Rehabilitation Unit for Rare Diseases of the Central and Peripheral Nervous System at the Medea Institute. “Family, school, recreational and sports environments, and hospital facilities that monitor or treat the underlying condition are all spaces where the support and integration process takes place, with significant emotional impact.”
At IRCCS Eugenio Medea – La Nostra Famiglia, rare diseases have increasingly occupied a significant role, both in inpatient care across its various hospital sites and in outpatient services. “The advent of new molecular diagnostic technologies,” Dr. D’Angelo continues, “has made it possible to identify a growing number of rare diseases primarily affecting the nervous system. This has opened new paths for research and clinical trials, but also requires more comprehensive care involving multiple medical and rehabilitation professionals.”
A disease is defined as rare based on its low prevalence in a given population (in the EU, fewer than 5 people per 10,000). Collectively, however, rare diseases represent a public health emergency: around 7,000–8,000 have been identified, and they are estimated to affect over 300–400 million people worldwide—about 6–8% of the global population. They are chronic conditions, mostly genetic in origin, and only about a thousand have specific treatments. In Italy, more than two million people are living with a rare disease; 70% are children, and 40% are affected by conditions involving the central and peripheral nervous system and muscles.
Avvenire
https://www.avvenire.it/vita-e-cura/gli-amici-il-nuoto-il-futuro-tutto-da-scrivere-la-storia-di-edoardo-ragazzo-raro-come-la-sua-malattia_105249
