Andrea and Carola: a boy and a girl united by illness but divided by health. The two young people discover that they are affected by the very rare Lafora’s diseasea rare, genetic, progressive myoclonic epilepsy that begins in childhood with ataxia, seizures and cognitive decline. A disease that was ‘turning off’ Carola, but that in 2022, at 17 years old, she managed to slow down thanks to an attempted therapy, granted by the Lazio Region.
“Two years have passed and Carola he didn’t miss an infusionhis conditions are good today and I continue to fight”, says Simona, his mother. A possibility that is denied to Andrea, a twenty-year-old who lives in Lombardy. Lafora was diagnosed in 2020, he was 16 years old. He too is offered the chance of farmaco Myozymeenzyme replacement therapy by Sanofi already in use for another pathology, Pompe disease, but the epilogue is different.
The drug cannot be administered to Andrea, because in Lombardy the relevant structures have expressed negatively. The road is blocked for him. And his parents Stefano and Daniela are launching an appeal to find a solution. “Our son is one of the few patients who at 20 years old can still walk and talk, but for how long?”, asks the father. The hands of the disease turn inexorably. The life expectancy for these kids is a few years, on average 5-10 from the onset of tangible disorders.
Last October-November, the doctor of The best who follows Andrea proposes to him and another boy the possibility of trying the therapy with Myozime, asks for the documentation of the other patients in treatment, used to start the route in other regionspresents it at the Mario Negri Institute in Bergamo, where the coordination of the rare disease network is based. “But the manager blocks everythingexplaining that there is still no scientific evidence that the drug works and that the Region cannot reimburse such an expensive treatment without this supporting data”, explains the father who launches an appeal. “I ask 3-4 months of treatment to try to contain the spread of the disease, we realize the necessary cost-benefit assessments, but behind these numbers there is the life of a child”.
