In the beginning, hope was kindled for Carola, a student from Fiumicino. Affected by the very rare Lafora disease, which was slowly ‘switching off’ her physically and cognitively, in 2022 at the age of 17 she was able to access a trial of therapy, a path unlocked by the intervention of the Lazio Region. “Two years have passed and Carola has not missed an infusion. Punctually every other Friday she goes to the neurology DH room, room 5, of the Bambino Gesù hospital in Rome where she is welcomed by professional staff, doctors and nurses who have begun to hope with her and fight alongside her. Her conditions are good today and I continue to fight”, says Simona, her mother. About 600 kilometers away from them, in Lombardy, lives Andrea, 20 years old. He received the Lafora diagnosis in 2020, he was 16 years old. From the first crisis that set off the alarm bells, it took almost 2 years, stops in different hospitals and many investigations to give a name to the disease.
He too is offered the chance of the drug Myozyme*, an enzyme 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 the competent structures in Lombardy have expressed a negative opinion. The road is blocked for him. And his parents Stefano and Daniela are launching an appeal to find a solution, a way to guarantee what is currently the only possible option for the boy, after even the last hope of entering a trial underway in Dallas for an experimental American therapy (by Ionis Pharmaceuticals), ‘desired’ by Lafora patients from all over the world, has faded due to age issues, father Stefano Mariani tells Adnkronos Salute. “Our son is one of the few patients who at 20 years old can still walk and talk, but for how long?”, he wonders.
Race against time and dead ends – The hands of the disease turn inexorably. Lafora does not stop, crisis after crisis it messes up movements, weakens, deteriorates cognitive abilities. At the origin there is a genetic alteration that causes sugars to accumulate especially at the brain level, in the absence of the proteins that should synthesize them, involved in the metabolism of glycogen. The life expectancy for these kids is a few years, on average 5-10 from the onset of tangible disorders. And then there are the dead ends that Andrea and his family know well. “After the diagnosis in 2020 we landed at the Bellaria hospital in Bologna which became our reference”, Mariani recounts. It is a center ultra specialized in the pathology to which almost all patients arrive.
The boy enters “the study of the natural history of the disease”. On the horizon is the experimental therapy of Ionis, whose path is struggling and after the Covid pandemic will suffer a serious stop. “Andrea – says the father – has endured everything, even difficult and invasive tests, such as the lumbar puncture, in honor of what could have been the development of this drug, but they left us like this”. The 20-year-old was also in the trial of another possible drug (Val-1221), but “that study also came to nothing” for apparently “economic” reasons. Cut out again. “And in the meantime time passes”, says the father bitterly. And in the last year in particular there have been some worsening.
The boy managed to graduate from the agricultural institute with great difficulty last July, “then the cognitive decline became more evident”, observes Mariani. And it is difficult, because “he realizes what is happening to him”, so much so that he is also followed by psychologists to “manage the immense anger for this state of his. He played tennis until 4 months ago and now he can’t anymore, he was very good at chess and now he can’t anymore”. It is also painful for the parents to helplessly witness this parable.
Destinies divided by a different residence – Last October-November, the doctor at Besta who is following Andrea suggests to him and another boy the possibility of trying the therapy with Myozime, asks for the documentation of the other patients undergoing treatment, used to start the process in the other regions, and presents it to the Mario Negri Institute in Bergamo, where the coordination of the rare disease network is based.
“But the person in charge blocks everything, explaining 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 Mariani. The collection of scientific data is underway, several specialists are working on it, but there are still no publications that make the results official.
It has been demonstrated that the drug crosses the blood-brain barrier (a fundamental step for it to have any effect), as explained by the mother of the first Lafora patient treated, Carola, whose case will be discussed at a European conference on epilepsy. And further evidence is awaited. In the meantime, Andrea’s doctor tries to present further documentation. But the application is rejected again. The Italian Association Lafora Aila is also taking action.
“At a certain point, the Pharmaceutical Organizational Unit of the Lombardy Region also suggested that if Besta had taken responsibility for the administration, it could have been done, but the Ethics Committee expressed a negative opinion. We tried everything to overcome these obstacles, but it was no use – says Mariani – But as parents we cannot sit on our hands. Andrea ended up feeling unwell up to 35 times in a year between epileptic attacks and absences and the situation will only get worse”.
“I ask myself: now that some scientific data awaiting publication have been made known, is it possible to have Myozime? Why let Andrea die when there is the possibility of dragging one’s feet a bit knowing that this attempted therapy on Carola and other patients seems to work. Why has this been possible in other regions and not in Lombardy? We have even thought about transferring our residence, but it seems absurd to us – he concludes – I am asking for 3-4 months of treatment to try to contain the spread of the disease, until perhaps the way opens up for the targeted therapy of Ionis (which is now starting a trial) if it is shown to work. It seems unfair to me not to try to save these kids. We realize the necessary cost-benefit assessments, but behind these numbers is the life of a child”.
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