Hi, my name is Giovi. I am 15 and I live in Turin.
When I was born, my parents and 3-year-old brother thought I was a cute little baby – blonde, healthy and lively, with big green eyes eager to know everything about the world.
I soon tried to stand up and run, but my legs were weak and I always fell! My parents got worried and soon started to look for help in order to figure out what was going on. They consulted several medical specialists in Italy and abroad. All of the visits and examinations I had excluded all genetic diseases known to date, but didn’t provide us with an answer. My case was unique!
As I grew up, I went to nursery school before and elementary school later. I studied and learnt easily. My mum and grandma helped me to learn a lot of funny stuff – from children’s games to exercise, from bike riding to swimming, from painting to decoupage – I learnt to do all of this my own way, all the way up to hip hop dancing and chorus singing!
Then, 3 years ago, something happened.
I attended the Unitalsi’s pilgrimage to Lourdes, Children for peace, with my mum and grandma. It was exciting, there were lots of children coming from all corners of Italy and we all wore colourful caps with the peace rainbow on them. We experienced joyful moments of hope, prayer and friendship.
On the very last day, as we were in front of the Grotto, we met a friendly and open-hearted Italian family from Rignano sull’Arno. Both the father and their 2 sons had the same symptoms as I did: motor impairment and weakness in legs and hands. It was very moving, since it was the first time that I had met people just like me.
It was this family that recommended we contact doctor Nereo Bresolin, Professor of Neurology at the Università degli Studi di Milano and head physician at the Ospedale Maggiore. Professor Bresolin managed to provide them with the correct diagnosis after years of failures, and the same thing happened to me. After 14 years I finally got my diagnosis: peripheral neuropathy caused by a new Mitofusin 2 mutation, with no other cases in our family history.
It was a huge moment: my diagnosis was the same as my friends’! This is a very rare disease but Our Lady of Lourdes wanted us to meet and I am confident she will guide us to a cure!
I am currently studying languages in high school because I like travelling and getting to know and talk to people from all over the world. I need to use a wheelchair to move around and it’s very hard, but I have lots of new friends and interests, such as contemporary arts, photography and movies from the Twilight saga. I have also started taking sit-ski lessons in Sestriere with FREEWHITE SPORT DISABLED ONLUS with my parents and brother. I am trained by ski champion (and Olympic silver medal in Albertville 1992) Gianfranco Martin and we really have lots of fun.
I have never had the chance to run, or to comb my hair or do my make-up on my own, but I always think about the things I can do rather than thinking of what I can’t. As the old line says, according to physics bumblebees cannot fly but as they don’t know about it they just keep flying … just like I have done since I was a kid.
I will always be grateful to Riccardo, Marco, Luigi and Annamaria for helping me. Our families kept in touch and now, together, we have great plans for our future. We’re looking forward to meeting other friends who fight against this pathology to share our experiences and make our dreams come true.