Hello everyone, I am Ginevra and I have a younger sister, who is called Giorgia… we’re two little girls!
I am an active, dynamic, sporty chick. I can’t sit still. My sister, on the other hand, is placid, she is a contemplative child. She spends her hours talking on the phone, I’m jumping into the house.
Our history is particular, and it is the result of the stubbornness of our parents. As a child I gave signs of restlessness, giving many thoughts to dad and mom. When I was 11 months old, I had Kawasaki Syndrome, I had everyone get a big scare, but I got away with it. Only Dad, however, did not get wet, he saw something strange in me, he felt the need to investigate despite the contrary opinions, despite everyone telling him that I was a very normal child. Everyone knows dad’s a little crazy, but he never accepted the answers from the various doctors who said he didn’t make comparisons with other kids. He felt there was more. They had me do evaluations with Mom. When I was two and a half years old, I was diagnosed with a delay in language, but Dad wasn’t convinced, and shortly afterwards I was diagnosed with autism spectrum disorder. Diagnosis difficult to digest. I started a rehabilitation process and yet my parents were left with the doubt that there was a out of tune note.
They fought, they were stubborn, alone against everyone, but certain to do my good. In their path in search of a certain answer, they met a really nice and competent geneticist doctor, who listened to their words and had me and Giorgia do in-depth checks, promising dad and mom that he would give us a certain and definitive diagnosis. And here we are, my dear little sister of almost 4 years, apparently still healthy, we had our answer: we are both suffering from Type III A Sanfilippo Syndrome.
Now they can dedicate themselves to us to our needs, trying to guarantee us the best so that we can enjoy life. Our history teaches us that information and dissemination are fundamental, that too little is known about mucopolysaccharidosis, that we must tell one another because an early diagnosis is fundamental to have a better life opportunity.