Photography can break silence. Incontrovertible evidence lies in the story of a nine year old child named Alex Granini who lives in Valbrona, in the province of Como. At age three he was diagnosed with a rare genetic disease: the reticular pigmentation disorder linked to chromosome X. Initially no one could figure out what it was until the answer came through an online consultation with Andrew Zinn, a geneticist from Dallas who was studying for over twenty years, the X-Linked Reticulate Pigmentary disorder with Sistematic Manifestations (XLPDR) a genetic disease which is chronic and highly debilitating. Its characteristic signs? The progressive loss of vision caused by corneal dystrophy, ulcers present on the cornea that make the eye ultra-sensitive to sunlight, stains on the skin caused by uneven pigmentation, and lack of lacrimation, salivation and sweating due to a malfunction of the sweat glands that cause a severe deficit of thermoregulation. So far there are only 14 people in the world, mostly males, and little Alex is one of these. Although doctors have discovered the genetic mutation responsible for the disease, there is still no cure. “When a family is diagnosed with a rare disease, life not only changes for the patient but the whole family,” the mother Patricia says that she and her husband Enea have never let the guard down. “I’m a very stubborn woman, determined and proud, my being so, allowed me to not give up with Alex, to save his life despite those who already gave up on him as dead,” she adds. Not by chance it is this very stubbornness for her son’s life that led her after a long “medical pilgrimage” to find Dr. Irene Bruno at the Burlo Garofolo Hospital of Trieste, who became fully involved by the story of Alex and that has never abandoned her. Her team consists of nurses, surgeons and anaesthesiologists who have been dealing for years, consistently, with the appropriate clinical findings to alleviate the symptoms through surgery, ointments and oils for the skin, eye drops and eye gel and antibiotics for respiratory infections. “Alex is a very intelligent child but as he is growing, he understands his body is like that of others but clearly different – explains Patrizia – he is becoming aware of its limitations, he cannot run and play like other children, living at home dreaming being outdoors, and right now he is very angry. Alex taught me that we can decide where to go, what to do, whether eat or drink, but life itself, you cannot control, it is a closed box, you never know what you’ll find inside.” In this closed box no natural nor artificial light can come in, because it has become a hostile element. But the optimism and confidence must not fail. “He loves life and is curious about everything, asks so many questions, he is cheerful, sociable, sweet and sensitive, but also very proud and determined.” Accompanying him in this run for life is an entire family who faces many difficulties but that has never pulled back. So the story of Alex has become a project of the photographer Luca Catalano Gonzaga entitled ‘One of a kind’, supported by the Nando and Elsa Peretti Foundation, with the aim of telling the drama of rare diseases and to overcome isolation of the sick and their families. (text by Sebastiano Caputo).
Valbrona, province of Como, Italy. Alex in a playground near Valbrona.
Trieste, Italy. Alex in his hotel room in Trieste, where he undergoes checkups at the city hospital every 6 months.
Valbrona, province of Como, Italy Patrizia, Alex’s mother, is always ready to protect her son from direct sunlight.
Valbrona, province of Como, Italy. Alex protects his eyes from sun rays and the glare coming from the water of the lake Como, Italy.
View of Valbrona, in the province of Como, Italy.
Valbrona, province of Como, Italy. Alex plays with his father in a playground.
Valbrona, province of Como, Italy. Giulia takes a stroll in the surroundings of the lake Como.
Trieste, Italy. After the medical tests are completed, Alex and his family are ready to go to a restaurant outside Trieste.
Valbrona, province of Como, Italy. A portrait of Alex. The spots on the skin are called “Reticulate Pigmentary Disorder”. At the moment, the spots are stable but they are changing in color; for this reason Alex is going to see an oncologist in January 2016.
Valbrona, province of Como, Italy Though wearing special sunglasses, Alex always travels by car with tinted windows.
Valbrona, province of Como, Italy. To minimize the discomfort to the eyes, Alex has to put special eye drops at least 10 times a day.
Valbrona, province of Como, Italy. It’s 6 a.m., Alex has just woken up and as his routine he curls up on the couch for about 10 minutes, to let the eyes gradually adjust to the light.
Milan, Italy. Dr. Andrew Zinn, a geneticist from Dallas, Texas, illustrates other recognised cases in the world – to date only 9 – during a convention held in Milan in 2014, organized by XLPDR International Association ONLUS founded by Patrizia, Alex’s mother.
Valbrona, province of Como, Italy. 07.00 a.m.: Alex, still half-asleep, has his breakfast.
Valbrona, province of Como, Italy. A moment of tenderness between Alex and his mom Patrizia.
Valbrona, province of Como, Italy. Alex and his mother just before going to bed.
Valbrona, province of Como, Italy. “Giulia, make the dog get off the sofa!”
Valbrona, province of Como, Italy. Saying ‘Goodnight!’ to Mum and Dad.
Valbrona, province of Como, Italy. Cuddle moments before bedtime.
Valbrona, province of Como, Italy. Alex among his toys.
Valbrona, province of Como, Italy. Portrait of Enea and Giotto the dog.
Valbrona, province of Como, Italy. Alex protects his eyes from the sun while going to the supermarket with his father and his sister.
Rimini, Italy. Patrizia takes care of her little Alex spraying on hair a refreshing jet of water on his hair. It takes just a few minutes to overheat his small body.
Valbrona, province of Como, Italy. Alex plays hide-and-seek with his sister Giulia in a supermarket.
Valbrona, province of Como, Italy. A moment of rest for Alex after playing at the playground.,Alex can’t run or play for more than 10-15 minutes. He often has to stop in order to keep the body temperature constant.,An increase in body temperature causes strong headaches, skin reddening and a complete confused state.
Trieste, Italy. Alex walks along the city seafront next to his mother Patrizia, holding his stuffed animal.
Trieste, Italy. The whole family at Burlo Garofolo Hospital in Trieste. Every 6 months Alex undergoes several medical examinations.
Burlo Garofolo Hospital, Trieste.Within the elevator with mum and dad, carrying Alex’s medical record.
Burlo Garofolo hospital, Trieste. Alex during an eye exam.
Burlo Garofolo hospital, Trieste. Alex at the end of the medical examination.
Burlo Garofolo Hospital, Trieste. Alex is waiting for being hospitalized.
Burlo Garofolo Hospital, Trieste. Alex is taken to the operating room.
Burlo Garofolo Hospital, Trieste. Alex with his mother while he waits to be taken to the operating room.
Trieste, Italy. Alex, now at the Burlo Garofolo Hospital, is arranged on the stretcher by nurses and is about to enter the operating room. His face is consumed by the many operations, but his father is there to give him comfort.
Trieste, Italy. Alex is ready for surgery along with his faithful friend: Spider Man.
Burlo Garofolo Hospital, Trieste. Patrizia protects Alex’s eyes from the operating room lights.
Burlo Garofolo Hospital, Trieste. Alex in the operating room during the preparation before general anesthesia with cardiac monitoring. Alex shortly before being taken to the operating room where he will undergo skin biopsy, surgery for corneal ulcer in left eye and oral rehabilitation: lack of salivation causes dental caries, damages the enamel, and makes the mouth more vulnerable to infections, apart from difficulties in swallowing.
Burlo Garofolo Hospital, Trieste. Alex’s mum Patrizia embraces Lorena, the nurse who has known Alex since he was 3 years old.
Trieste, Italy. Dad Enea, following the recommendation of Patrizia, the mom, places a blanket on the window to prevent light from entering in Alex’s room who hides, to cover.
Trieste (Italy). After surgery and 2 days of hospitalization at Burlo Garofolo Hospital, Alex and his parents go to the cinema to see “Kung Fu Panda 3”.
Valbrona, province of Como, Italy. Helped by his father Enea, Alex wears his kimono before going to judo lessons. His parents take him to the gym in order to support his integration with other children and to prevent any form of isolation.
Valbrona, province of Como, Italy. Alex simulates a fight with a girl of the same age. On doctors’ recommendation, his parents considered important to enrol Alex for judo lessons so that he could socialize with other children of the same age and did not feel isolated and different.
Valbrona, province of Como, Italy. It is necessary that Alex’s body temperature remains unvaried, otherwise he could get in a confused state with strong headaches. This is why he has to be refreshed with water repeatedly during judo class.
Valbrona, province of Como, Italy. In the mountains nearby Valbrona.
Valbrona, province of Como, Italy. Giulia under the snow.
Valbrona, province of Como, Italy. Giulia strolls in the snow.
Rimini, Italy. Protected by sunglasses and cap Alex plays smiling in the water late in the afternoon when the rays are weak unlike the morning where the environment is much more hostile.
Rimini, Italy. Alex’s entire family dives into the water with the little one.
Rimini, Italy. Alex looks upward in late afternoon hours as the sun is setting and emitting weaker light rays that allow the little one not to be blinded.
Rimini, Italy. The afternoon hours of the beach, less chaotic and loud, allow Alex to concentrate on Patrizia’s voice that accompanies him in his amusements.
Rimini, Italy. At the outbreak of fireworks, for unconditional reflection, Alex shakes his eyes in front of the light beam that lights up the night.
Rimini, Italy. The beach lights up with the fireworks where Alex’s family decided to spend the holiday.
Trieste, Italy. Alex in a moment of play in Trieste.The night is the best time to go out and have fun: the sun has set and there are no jumps in temperature.
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