The story of Mariani
Augusto Mezadri was born on April 24, 2014. He is Daniela and Lucas Mezadri’s son. He was diagnosed with Mucolipidosis II when he was 14 months old. His mom’s pregnancy was OK till some exams showed the amniotic fluid was turning down (33rd week). She stayed in hospital for 3 days. In the 37th week again … Augusto was born with 38 weeks. He was great!!! In his 4th months old he had inguinal hernia. After that, his spinal column was not well. At this time the doctor said he had morquio syndrome. When he was 9 months old, a geneticist told his parents he had a syndrome, but she didn’t know the name. More and more exams had been done … When he was 11 months old he went to hospital with bonchiolitis. He was in the intensive care unit, breathing through tubes with the help of machines. He was hospitalized for 20 days. Finally the diagnosis: Mucolopidosis Type II. It came as a shock for his family, mainly when the doctor said the baby’s life expectancy was about six years old!!! Today he cannot get in touch with ill people. Augusto stays at home with a baby sitter (she is a Nurse) because his parents have to work to give him all the support he needs. A Physiotherapist goes to their home 3 times a week and a Speech Therapist, twice. He takes antibiotics immediately when he has some fever or respiratory problems. He also takes medicine for blood pressure, some homeopathic for growth, vitamins, a bronchodilator twice a day and a complex for human growth. He does not walk yet, but he says some words (in his own way, of course). Augusto has a dental prosthesis (front teeth). In spite of everything he is living, he is a happy and lovely boy. We are writing to share the problem and because we have interest in researches and in helping in the tests, taking some new drugs which are been discovered and tested. Today Augusto is 2 years and 9 months old. He weighs 10 kilos and he is 73 cm tall. I am Augusto’s aunt and godmother. We are from Veranópolis, a town in Rio Grande do Sul, Brazil.