“Simone now wants to get up”, the child’s struggle with a disease that has only 3 cases in the world – La Stampa


There is a brave family in Montanaro. Nothing seems to stop her in the battle she is waging to find a cure for their only 6-year-old son, Simone, afflicted by a disease that, in the world, sees only three other cases. So rare that there is only one scientist in Cyprus to study it. The battle of mother Katia and father Alexander is concentrated on raising the funds necessary to pay for the research of Professor Kleopas of the Institute of Neurology and Genetics of Cyprus: 60-70 thousand euros per year for two years. Not even the lockdown has stopped them and in recent months, between charity sales and the solidarity of many friends and strangers from that corner of the Chivassese where they live, they have managed to raise € 25,000 to restart Kleopas’ studies. «By November – says Alessandro Desiato, 41, engineering programmer – we are committed to completing the payment for the first year of research. I don’t know how we’ll do it, but we have to do it. “

Simone was born with a particular form of leukodystrophy, PMLD related to the GJC2 gene, so rare that dad and mom managed to find only three other cases in the world: two in the USA and one in France. Simone is a “demyelinating” disease: it affects the development of myelin, the “sheath” of the conductors of the neurons that make up the communication system of the brain to the body. Simone’s myelin developed abnormally, protecting the cognitive, but not the motor, part. It is a degenerative disease and, if research in Cyprus could even stop it, it would be a great result. Simone has an above average intelligence, but moves badly, without balance. «Forgive me what I am about to say but, paradoxically, being so intelligent exacerbates Simone’s discomfort and problems because he realizes what is happening to him and closes more and more in himself. His ideal world is the floor where he manages to move almost like the others and is perhaps the only child to love the school cafeteria because, even there, when everyone is sitting, he does not feel different “, says Alessandro Desiato who, playing with the shifts working, he alternates at home with his wife Katia, 38 years old. Dad tries to play down a story that absorbs all the economic and physical resources of the family but his eyes fill with tears.

“Simone often says” I want to stay small “because as a child you are all in the stroller or in your arms and you play on the ground” – explains the mother. It takes courage to rebel against an incredible situation like that of Simone whose disease was diagnosed a couple of years ago but after that, for as many years, the parents had wandered from hospital to hospital unnecessarily. “The diagnosis – says Desiato – was made by the specialists of Besta in Milan, the most important neurological center in Italy. I asked what the cure is and I heard myself say “There isn’t”. I managed to contact three other families in France and the United States in our situation. ” «Resigned people. Faced with our insistence to get together and try to react – remembers Katia Desiato – we were told “No thanks, there is nothing we can do”. Oh no, we’re not there. ” And so the Desiates have founded a non-profit association towards which all the money they have and is laboriously collecting to go to Professor Kleopas who had already dedicated himself to studying Simone’s disease, but who threw in the towel when they are the funds allocated by Ela, the European Association for leukodystrophies, are over. Now he has resumed his research thanks to the courage and determination of Alessandro and Katia who, however, risk not doing it alone.

Specchio dei Tempi will support the effort of this family, together with all the readers who wish it: payments can be made with the reason “for Simone” through a bank transfer to the bank account in the name of the Foundation – La Stampa Mirror of the times, via Lugaro 15 , 10126 Turin, IBAN CODE: IT67 L0306909 6061 0000 0117 200, Banca Intesasanpaolo or via postal account number 1035683943, made out to the La Stampa Foundation – Mirror of the times. It is also possible to use the credit card for online donations on the website www.specchiodeitempi.org.

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