“Let’s break the loneliness of the disease”
Parents of a girl born with a rare genetic disease found a non-profit organization to help families like them
Sofia is six years old and her smile, when it lights up, those rare times it happens, releases a light that warms the room. A miracle. She suffers from Tubulinopathy, a rare genetic disease that is still little known today, which causes even very serious psychomotor delays. In fact, Sofia does not walk, she does not speak, her eyes do not see and she is fed with a probe that reaches directly into her stomach.
“In the ninth month of pregnancy we discovered her pathology – says her mother, Marta Paddeu, who with her husband, Gabriele Maggi, accepted the challenge of giving birth to the baby and being close to her in her growth – I was 29 years old, one minute first I chose the clothes she would wear, I went to the pre-birth class, I was over the moon and the next minute I was crushed by the weight of a no-appeal diagnosis, a verdict that devastated an entire family. There were those who, at the time, advised us to go abroad for an abortion, they never gave us hope. “But who am I to interrupt a life?”. This is the question I asked myself then and that I would still ask myself today. Sofia came into the world and from the first moment we never stopped fighting with her ».
The idea of the association
Indeed the two parents, with their grandfather, Antonio Paddeu, former director of the “Paola Giancola” Cardiorespiratory Rehabilitation Unit of the Cantù hospital, and some friends have done much more.
In 2018 they created the Sprint Onlus association which raises funds to finance initiatives in the field of Tubulinopathies. It promotes support, prevention, research, early intervention to try to deal with Tubulinopathies in the best possible way. And in particular it aims to network with families who find themselves living with situations similar to that of Marta, Gabriele and Sofia.
From enormous pain and difficulty the courage to bet once again on life, that life weighed more on the scales, was triggered for them, almost as a reaction and certainly for a concrete need, because the experience of this family should not be wasted but shared and put to good use.
“After giving birth, Sofia was born on October 28, 2015, and after two months of hospitalization in intensive care, when we returned home, I immediately realized that we would have to face this business as a family, but alone – continues Marta – There is no psychological support path for the couple, they are abandoned, without points of reference. And not all families have their own means to experiment with innovative therapies. We from Como went to Milan, Cannero Riviera, Naples up to Tel Aviv to try everything and with very important expenses. In Israel, we even paid six thousand euros a week for therapy. But unfortunately for Sofia the improvements have either not been there or have been minimal ».
“What we experienced was an unequal war – adds Antonio Paddeu – There is a lot to do for research in the field of rare diseases and if there is the will, the work that led to the vaccine against Covid, giant strides can be made for these special boys and girls. Among the first things to do is to bridge the gap between hospital and families and think of a support network so that they never feel lost “.
Sprint Onlus is working in this direction. Marta is a psycho-educationalist, she cultivates the desire to put her personal experience to good use with her professional one.
“Alone to climb Everest”
“These pathologies invade a family, they are traumatizing events for which one is not prepared. You find yourself climbing Everest and to top it off without knowing what the right equipment is and without a guide to show you the way. With our association, the goal we have set ourselves is to offer support, support and home education services for couples with children suffering from rare genetic diseases, particularly in the perinatal phase. Currently there is none of this, the focus is on the child and usually concerns exclusively his rehabilitation intervention. Instead, it would be important for the hospital and the institutions to report families living in this situation to associations like ours in order to direct parents to psychological help which is fundamental to tackle this path. Parental interventions if they arrive late when the family has already learned the consequences of the trauma. Setting up a service of this type requires a lot of funds but we believe in it and we will not lose sight of the goal ».
Anyone wishing to contact the association can do so by e-mail [email protected] or at number 338 13 37 797. Anyone wishing to contribute to the research can donate by bank transfer: Iban IT27 Z052 1620 4040 000000 13293 at Credito Valtellinese.
© breaking latest news