Vincenzo Maglia suffers from Narp syndrome (Neuropathy ataxia retinitis pigmentosa), a rare disease due to a mutation of the mitochondrial DNA on the maternal side
Vincenzo Maglia is strong. As Sasi, nickname of Salvatrice, his cousin, says, “he is attached to life”. True Neapolitan, loves pizza Margherita, Vincenzo. And spaghetti with octopus, the coffee and the ice cream cone, always with coffee, taken in Mergellina strictly at five every afternoon. Vincenzo loves the sea and boating. He misses the crossings from Pozzuoli to Sardinia. The white foam of the waves, the salt on the skin, that blue line on the horizon. He saw it first. A little blurry but he could see it. Now no longer. He took her away, slowly, L
to Narp syndrome, abbreviation for Neuropathy ataxia retinitis pigmentosa, a rare disease due to a mitochondrial DNA mutation in the maternal lineage.
The first symptoms
Born in 1984, «when he was seven we realized that d
at night he did not see and had an ataxic pattern»Says father Saverio. Ataxia (the explanation of the causes) is a condition for which muscle control during voluntary movement is impaired such as walking or grabbing objects. «We made some medical examinations: from magnetic resonance a very light one came out the
poplasia of the lower portion of the cerebellum (here are the most frequent forms) and from the fundus the discovery that had the retinitis pigmentosa (what are the tests to diagnose it) For the latter there was no cure: he would have gone blind ». A young neurologist friend advises his father to fly with Vincenzo to Rochester, Minnesota. At the Mayo Clinic, where they studied rare diseases. «I got active and at the end of November 1992 we went to the United States where Vincenzo was subjected to specialist examinations. In that same period Antonella, my wife, also had vision problems. The doctors in Italy had told her that it was due to the fulminant gestosis she had during her pregnancy: while in fact our second daughter, Angela, was born. I advised her, since we were there, to be visited and we discovered that Antonella too he had retinitis pigmentosa“.
The diagnosis from the USA
Back in Italy after a month they receive the diagnosis: Narp syndrome. “It was the third case in the United States, the first in Italy. They explained to us that the disease was transmitted through the mitochondrial heritage, present in the mother’s DNA, and therefore they advised us not to have any more children because they would all be born sick. The diagnosis showed that Vincenzo’s mutation was very high so he would not have reached the second decade of life ». But Vincenzo is tough, “attached to life” in fact. Up to the age of twenty his passed quite calmly, as Saverio recounts: «He saw a little, he walked around enough. At school he had excellent support teachers and he was the mascot ».
Problems got worse
Today, at thirty-seven, Vincenzo does not give up. The problems have worsened, it’s true: now he can’t see, he finds it hard to speak and he doesn’t move. “The problems increase and we increase the support: it is we who adapt to the disease as long as our life continues and he is happy,” says father Saverio. At their side, since they returned from the United States, they also have the Mitocon association (what kind of assistance it provides to the sick and their families) «It has always been supportive to us, it has mapped mitochondrial diseases and in Europe it has become a reference point. Mitocon is there when we need advice, an expert’s opinion, a reminder where bureaucracy poses obstacles ”, says the father. Yes, the obstacles. He’s a jumper, Vincenzo. “It is as if he empowers us to move forward and overcome any obstacles»Mum Antonella whispers with admiration. Vincenzo’s future? «It is useless to think about it. Now he is happy, he wakes up and goes to sleep smiling », Father Saverio reflects. And every day more, it’s like a gift.
October 4, 2021 (change October 4, 2021 | 18:35)
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