by Carmelo Caspanello
MESSINA – A story of courage and medical innovation. A story of “Hope”, like the name that will be given to this little girl from Palermo, the first in Sicily to receive gene therapy for spinal muscular atrophy (Sma) at just 27 days of life. This innovative approach, administered in a timely manner, can prevent the development of disease symptoms, completely transforming the fate of patients.
A diagnostic and treatment path
“Speranza” was followed with great dedication by the Uosd (Simple Departmental Operating Unit) of Neurodegenerative Diseases with High Care Complexity, under the direction of Professor Sonia Messina, and by the Complex Operating Unit of Pathology and Tin led by Professor Eloisa Gitto. Although the little girl was asymptomatic, an early diagnosis was essential, made possible by the presence of the disease in her two-year-old brother. The genetic diagnosis was performed a few days after birth at the Policlinico of Palermo, allowing for rapid therapeutic intervention.
An infusion of life
Thanks to the synergy between the various hospitals and the professionals involved, “Speranza” received gene therapy in Messina. The infusion of the drug, which lasted 60 minutes, was carried out with care and precision, constantly monitoring the little patient to ensure a safe and effective care path.
The courage of parents
“This is above all a story of great courage from parents – explains Professor Sonia Messina – who, informed about the risks and possible developments of the disease, chose not to carry out prenatal diagnosis and to face the challenge with determination. Their choice allowed Speranza to receive the therapy at a critical moment, radically transforming the perspective of her life. Once upon a time, children with the severe form of spinal muscular atrophy at most acquired control of the head, but not of the trunk, and were dependent on the ventilator and artificial nutrition and therefore had an average life expectancy of just over a year. Today, however – if the drug is administered in the first days of life – a radical change in the history of the disease can be witnessed. The follow-up data, available up to 7 years after treatment carried out at an early age with gene therapy or other innovative therapies, show extraordinary pictures with a survival rate of around 90% and a high percentage of patients with minimal motor, respiratory and swallowing impairments. The Region of Sicily has shown great sensitivity on the issue. We hope that this story can be a further incentive to make screening available soon.”
The importance of care
Speranza’s story highlights the importance of specialized pediatric care. Professor Gitto emphasized how the Pediatric Intensive Care Unit was essential to ensure safe and effective care. “A child treated in a pediatric environment has a higher quality of care and survival,” she emphasized, reiterating the added value of having specialists dedicated to young patients.
The importance of research
Rector Giovanna Spatari expressed pride for the results achieved, highlighting how scientific research is the basis of these extraordinary successes. “This story tells of a healthcare system that works and speaks of newfound confidence and hope,” she said. A sentiment shared by Director General Giorgio Giulio Santonocito, who praised the commitment of the professionals involved and the importance of an efficient organization to offer timely and innovative care. Speranza’s mother wanted to underline the value of research and the importance of investing in new experiments. “My daughter’s story,” she said, “is evidence of how fundamental research is. Without it, my children would not have had a chance. We want to grasp the beauty of everything that today has even more meaning for us.” The Center for Neurodegenerative Diseases of the “G. Martino” Hospital Trust in Messina confirms itself as a regional and national point of reference, with multidisciplinary skills that guarantee complete and high-quality care. The ongoing collaboration with other centers of excellence ensures constant updating and improvement of the care offered.
