«Mom, are you there?» Eugenio's voice calls to me from across the room, pulling me away from marking math homework.
Eugenio is twenty-three, five feet five inches tall, weighing just over two hundred pounds, and living with Prader-Willi syndrome. He's a charming young man with a clever look in his eye, blond hair, and blue eyes.
Eugenio fills our entire day. As soon as he wakes up, he's eager to head to Scuola Viva, a rehabilitation center for people with disabilities that he's been attending since last September. He switches on the tape recorder by his bed and plays songs he knows by Venditti, Morandi, Jovanotti, Vianello—and especially delights us with songs from Zecchino d'oro. Those are the tunes he finds easiest to repeat.
At three in the afternoon, when he comes home from school, he goes straight to the kitchen to make himself a smoothie. I leave out the right amount of fruit for his afternoon snack; he adds the milk, turns on the blender, speeds it up, slows it down, mimicking the sound of a car engine. Then he enjoys his smoothie and asks me what we're doing this afternoon. Twice a week, his home assistant comes—a young man Eugenio is fond of—and they take walks around the neighborhood or ride the metro to see Rome's monuments, squares, and parks.
When we're out in Rome with friends, Eugenio becomes our guide, rattling off: S. Paolo, Piramide, Circo Massimo, F.A.O. He wants to be the center of attention and feel that everyone is taking notice of him.
He wants to know about everything that happens in the house: when a guest arrives, what's being made for dinner, where his sister is going—everything.
He's quite good at puzzles, he plays on the computer, he knows a few card games, and he loves action films as well as classical music. Two afternoons a week, he goes to the pool—through an arrangement with the Sports for the Disabled Association. He swims, he has fun, but he doesn't exert himself much. Even when encouraged, his laziness about sports activities wins out, and he finds excuses not to push himself, joking around with the other kids and the trainer instead.
On Sundays, Eugenio loves having a special breakfast since there's more time. We go to Mass at a small church, and there he shows his passion for music, singing along at full voice with every hymn he knows—and plenty he doesn't. The priest greets him, the children greet him, the adults greet him. And he greets them all and goes up to them.
He's delighted when guests come for lunch: with them, he becomes a true man of the house.
All his happiness he shows me by hugging me and showering me with affection whenever something brings him joy.
Naturally, the week is marked by moments of irritability, which I manage to ease by diverting his attention from whatever he's fixated on. Instead of giving him the snack he wants, I remind him that we were supposed to call his sister in Sicily, or I ask for his help with some task. During these irritable moments, he'll take out his frustration on the frame of his glasses, breaking them, or picking at the skin around his fingers. It takes a great deal of patience and love to bear his stubbornness and his persistent, repeated requests to get whatever is on his mind at that moment.
Eugenio was born at term, the third child. Before him came Rossella, then Stefania, and two and a half years later, Eugenio arrived. Of course, his two sisters' lives had to take a different course. Giving priority to their brother's needs was simply necessary; they grew accustomed to living with a problem that affected all of us. They became available too, helping their brother practice various activities.
Eugenio weighed just over six pounds at birth, delivered by cesarean section because of the total lack of muscle tone he showed on X-ray. Ultrasound wasn't available then, but we had the usual blood and urine tests—which couldn't possibly have revealed a chromosomal disorder. He was immediately placed in an incubator at Bambin Gesù hospital, and the syndrome was never diagnosed. We didn't even know what we were looking for.
Eugenio was completely hypotonic—he made no sounds, couldn't move his head or limbs, and had severe difficulties breathing and sucking.
When he came home, frequent respiratory problems forced us to hospitalize him repeatedly. But the doctors had nothing to tell us about a diagnosis. After about a year, we took him to Geneva, where they diagnosed one syndrome; then to Bern, where after about three weeks they discharged him with a probable diagnosis of Prader-Willi syndrome. The only path forward was rehabilitation. But what would rehabilitation achieve? Little? Much? Maybe? But where did we turn? So many questions—but also deep certainty in myself: I would do everything possible to see him improve.
A friend introduced me to her brother, who as a medical student was dedicating himself with altruism and passion to the rehabilitation of children with cerebral conditions. That was the turning point. I trusted Giorgio immediately, and he took the risk with me; we made a wager. He followed me step by step with the Doman method, though heavily modified and adapted to our needs: masks, head-down exercises, sliding, rolling, stimulation for all five senses, cognitive worksheets. Starting when Eugenio was eighteen months old, I began doing the exercises at home, each one adjusted as Giorgio adapted the method based on the small improvements we were seeing. A conviction grew that we were on exactly the right path. (Giorgio is now an accomplished professional, director of a rehabilitation center.)
Then Came the Hard Part
With help from Rossella, his older sister, and two other young women who came to help in the afternoons, we achieved what seemed impossible. Eugenio began to walk around age five. With the constant, loving presence of Renata, a speech therapist, from age eight until nineteen, Eugenio spoke his first words, then short sentences, and eventually developed an acceptable way of expressing himself.
He attended kindergarten—not without difficulty in being accepted—then elementary school and middle school. Thanks to his Italian teacher, Giuliana, he was accepted and included well, meeting the goals that his support teacher, Ornella, had set for him.
Then came the choice of art school—an institute that seemed to balance what Eugenio could do: drawing, ceramics—while still allowing growth in social relationships, learning rules, and gaining knowledge.
There were many obstacles to overcome, and we often doubted whether it was worth keeping him in a mainstream environment or whether to make a change. It had many good sides, but the moment came when he needed to develop skills more suited to him. Now he attends Scuola Viva, where group activities, gardening, physical education, and cognitive experiences are more naturally suited to him.
The least manageable aspect of his syndrome is uncontrollable hyperphagia. The kitchen at home is locked. Crackers and other provisions are stored on unreachable shelves. We avoid keeping sweets or heavily seasoned dishes within reach. But he has a special nose and manages to hunt down even what we hide in strange places.
In 1994, the Prader-Willi Association was founded in Rome—following chapters in Milan, Turin, Genoa, and Naples—precisely so that families, with mutual help and advice, wouldn't feel isolated. With support from doctors at Bambin Gesù, the Association has expanded and shares knowledge of every medical, health, and rehabilitation aspect of the condition.
Now families navigate this path more easily because they have clear information about diagnosis, dietary habits, required checkups, and the behavioral aspects of these young people to whom we are devoted, and who show everyone their affectionate, sensitive, sociable, and cheerful nature.
- Margherita Cannavò, 1999