Clara, a blonde and lively 3-year-old girl, draws colorful trees and flowers while listening to her mother, Gloria, who tells a story that started out uphill, but also lucky: hers. “My daughter was born in March 2020, during the lockdown for Covid. Not an exactly favorable situation. But she was born in a region, Lazio, which, unlike others, had already activated early screening for SMA, l spinal muscular atrophy. And this has completely changed his and our perspectives. Just like the commitment of the doctors, once the diagnosis was made, even in such a complicated moment as that of the pandemic: there was speed, efficiency and closeness”, explains Gloria to Adnkronos Salute, who participated with Fabio, the child’s father, in the press conference organized at the Chamber by Ilenia Malavasi (Pd), in collaboration with the SMA Families association and with the support of the Rare Diseases Observatory (Omar), to ask for the green light for the decree which expands, throughout the national territory, the number of diseases to be diagnosed at birth, including SMA.
“Our story – Gloria underlines – is the true testimony of how fundamental neonatal screening is. My daughter was diagnosed at 10 months of age and began her first treatment at 17. The results are evident: she can walk, running, has the same development as healthy children of his age. Timeliness is very important in this rare degenerative disease. Days, and even hours, in the most severe forms, count. We were very lucky because we were part of a pilot project. Clara was one of the first children found in Lazio with SMA. We had been informed with a brochure that communicated the possibility of joining the extended screening, using the same drop of blood that is taken for standard screening. And we signed up.”
When Clara was born, “only one treatment was available. Today there are three – highlights Gloria – The situation, in terms of therapy, has even improved. It is therefore even more important to do the tests. The treatment that Clara does is life, and must be repeated every 4 months. And so far the results have been excellent”, concludes the mother, specifying that, “if today we are here together with Clara, it is thanks to science which has made these great steps forward and thanks to those who have so much was spent for the implementation of screening. I can only thank and remind, with our history, that the tools to avoid dramatic outcomes are there and it is not acceptable that there are children who do not have access to this possibility”.
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