To grow beyond the difficulties

Sofia was born with a very serious rare genetic disease that is still little known in the field of Tubulinopathies. Marta and Gabriele, her mom and dad, went everywhere to find help for their little girl. A long and winding path made of anxieties, fears, investments of time and money, to try to best support Sofia in this difficult journey. A continuous wandering through various facilities, starting in Como, then Milan, Naples, and ending up in Tel Aviv. What weighs most are the loneliness, the lack of information and a support network, when the diagnosis of a very severe disability arrives. To prevent other families diagnosed with Sofia's disease from having to go through the same ordeal, Marta and Gabriele, with a group of friends, decided to found the S.P.R.IN.T. Onlus association in 2018. There is no better path in life than the one made together, it helps to climb mountains, cross seas and deserts. Together we reach unexpected goals. It is in this spirit that S.P.R.IN.T. promotes Support, Prevention, Research, and Early Intervention to try to deal in the best possible way with Tubulinopathies, a disease that causes psychomotor delays in affected people, which, in the most severe cases, can have degenerative course, even leading to the death of the affected person: support, through paths of accompaniment of families; prevention, the through circulation of information that allows early detection of the disease; promotion of scientific and cultural research; early intervention through pedagogical counseling and the creation of educational projects tailored to the child and family. In order to carry out its mission, the association aims to raise funds through various events organized in the area, such as the evening at the Teatro Sociale in Como last November that featured health workers artists and guest singer Ivana Spagna. The logo of S.P.R.IN.T. Onlus is significant, the design of a turtle with an eye imprinted in its shell, also signifying the visual difficulties present in these children, with the hope and wish that all from beautiful "turtles" can become true "runners" all round.