Among the rare diseases, mitochondrial diseases are the most common of genetic origin. In Europe they affect one in 5,000 people, and they manifest themselves with very different symptoms, involving different organs and tissues and are, at times, unpredictable. However, they all arise from the same dysfunction: that of the mitochondria, the so-called energy plants of the organism, of the small organelles responsible for the production of cellular energy. This week is the Global Mitochondrial Disease Awardness Week, and information and awareness campaigns are underway all over the world on these pathologies, for which there is still no cure. Michele is a 23-year-old boy suffering from a mitochondrial disease diagnosed in pre-adolescence. TO Salute tells about his life, the story of his illness and dreams for the future.
The discovery of the disease
“My disease is a mixture of Leigh’s and Melas’s syndrome. I don’t even know how to explain it or how to tell it, also for this reason I have always talked little about it. Initially the symptoms I had were low vision and nystagmus of the left eye, then, when the first discomfort to the optic nerve began, on the basis of an MRI the doctors understood that it was a mitochondrial disease. Over the past three years, the thing that has bothered me the most about my illness is that sometimes, and unintentionally, my eyes close. Besides that, I get tired easily and have tremors in my arm and sometimes my left leg ”.
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Despite this, however, Michele has never felt the need or the need to talk about his illness to friends and other acquaintances he has had over the years. “I didn’t – says Michele – because I feel it didn’t affect or limit me, but I’m sure that if I had told it my friends would have understood, because they love me. I only happened to talk about it with a friend who had started medical school, who knew what mitochondria are and had studied rare diseases, and so she already knew what I was talking about. The people close to me, however, now know ”.
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Between history, philosophy and politics
Michele’s path, as a student, was flawless. He graduated from classical high school and is now about to complete his bachelor’s degree in political science at the university. “I’ve always had helpers at school like, I think, other kids who have the same disease as me. However, I think that the school first, and then the university, were adequate to my needs and my needs. I decided to study political science because it was recommended to me by a professor, but my real passions have always been philosophy and history. After three years I can’t say exactly why I did it and sometimes I’m a little sorry not to have signed up for History. But I think I will always be able to do it tomorrow ”.
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In politics, however, Michele has been involved for some years. He thinks it would be important for politics to commit and fight for rare diseases like his own, including them in party programs, but his entry into this world did not depend on this. “I did not enter politics to bring attention to the issue of rare diseases, and in fact the party to which I am a member, until last year, did not even know about my pathology. Politics is one of my great passions, as well as my ambition for my future life as well. I still don’t know for sure what to do after university, but becoming a parliamentarian is a dream of mine ”. In addition to devoting himself to history, philosophy and politics, Michele goes to the gym, takes a Shatsu course, and for a year has taken part in some projects promoted by Uildm, the Italian Union for the fight against dystrophy. “In my free time, however, I especially like reading. I really buy a lot of books, and for me it’s not a problem because I can read them all, but for my mother, yes, because I fill the room and there is no more room ”.
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The Mitocon association, as a “second family”
Michele’s parents, in 2007, founded the Mitocon Association, a world in which patients and their families can find support and actively act to raise awareness of the world of mitochondrial diseases. The association is also committed to promoting research by offering scholarships to students studying rare diseases. Michele and the other guys give support in the organization of conferences on and in fundraising, for example by supporting the Christmas and Easter campaigns for the sale of panettone and eggs, or by helping to organize shows such as the one held every year at the Theater 7 in Rome, in a period close to the rare disease day of 28/29 February. “I practically grew up in the association. At the beginning the office was in our house. I have the opportunity to meet many people also because in recent years it has expanded a lot. This year we also took a holiday in June in Tuscany, the Mitocampus, a wonderful experience for us children who suffer from these diseases and which was attended by almost a hundred people ”.