Knowing that the machine you need to breathe with has just one hour’s run time doesn’t make life very easy!
Above all, if you suffer from mitochondrial encephalopathy, and are perfectly aware of your condition. Andrea lives in Palermo, with his mum, Marianna, his dad, Giuseppe, and his little sister, Clara. He became totally dependent on them the day his disease finally immobilised him. But he’s as determined as ever to win this battle. His enormous curiosity is just one of his great strengths, alongside his firm belief that life, despite all, can still provide him with a smile or two.
Andrea has plenty of smiles and affection for his “friend Leo”. Leo is his physiotherapist. He asks him, “Take me into your arms!” – and for Vittoria, his lalophoniatrist, who also teaches him Italian and mathematics, and Clara, his adored sister. Despite the tracheotomy and the shortsightedness of institutions, and his own sight problems, he still loves his music, his computer and riding on the special Ducati bike his cousins gave him. Andrea is a friendly lad. He’s curious. Aware of everything that’s going on around him. And always ready with a smile when Clara’s around.
OUR COMMITMENT TO PEOPLE WITH MITOCHONDRIAL DISEASES
Very few people are prepared to finance research into the kind of mitochondrial condition that Andrea has. Our researchers have studied the causes of many of these diseases. The fact that these diseases are so varied means finding an answer for all patients is very hard indeed! So the research goes on.
Mitochondrial diseases are a markedly heterogeneous group of hereditary conditions brought about by alterations in the functioning of the mitochondria (specifically, in a process called oxidative phosphorylation).