The story of Alex – Chapter 1

by Luca Catalano Gonzaga

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. Alex’s illness is not seen, but he sees it, his legs work, his arms also, but his eyes because of the ulcerated cornea , suffer from a very strong photophobia: a ray of sunshine can cause extreme pain so as to blind him at a given time. Also, he cannot sweat and when the temperature becomes too high, this can cause fainting or it may endanger his own life (coma, heart attack , heat stroke). This leads to a compromised everyday life made of medications, but mainly of hospital admissions. Alex cannot go to school like all other children and is forced to be followed by a support teacher . Also, an educator constantly follows his growth and is careful so the child’s eyes are not overly fatigued and his body temperature is suitable. But Alex is not alone. Right by his side is a cohesive family that never made their child feel different from the others. Just watch him play at the park, outdoors, together with his peers. Alex is relentless, and more often than not he is the last one to leave. 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).

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