Hi everyone, I am Ginevra and I have a younger sister called Giorgia… we are two naughty girls!
I am an active, dynamic, sporty girl. I can’t sit still. My sister on the other hand is placid, she is a contemplative child. She spends hours talking on the phone, I spend hours hopping around the house.
Our story is peculiar, and is the result of our parents’ stubbornness. Even as a child, I was already showing signs of restlessness, giving Dad and Mum quite a bit to think about. When I was 11 months old, I had Kawasaki syndrome, which gave everyone a big scare but I did great. Only Dad, however, was not quiet, he saw something strange in me, he felt the need to investigate in spite of opinions to the contrary, in spite of everyone telling him that I was a very normal child. That Dad is a bit of a freak everyone knows, but he never accepted the answers of the various doctors who said not to make comparisons with other children. He felt there was more to it than that. Together with Mum, they made me do evaluations. When I was two and a half years old, I was diagnosed with a language delay, but Dad was still not convinced, and shortly afterwards I was diagnosed with autism spectrum disorder. A difficult diagnosis to digest. I started a rehabilitation programme, yet my parents were still left with the doubt that there was a discordant note.
They struggled, they were stubborn, alone against everyone, but certain that they were doing my good. On their way in search of a certain answer, they met a really nice and competent geneticist, who listened to their words and had both Giorgia and I thoroughly tested, promising Dad and Mum that he would give us a certain and definitive diagnosis. And here we are, me and my dear little sister of almost 4 years old, apparently still healthy, have had our answer: we both suffer from Sanfilippo Syndrome type III A. Harsh news, which weighs like a sentence, which took Mom and Dad’s sleep away, but now they know the truth and can feel less crazy for having sought it out.
Now they will be able to devote themselves to our needs, trying to ensure that we can enjoy life. Our story teaches us that information and disclosure are crucial, that too little is known about Mucopolysaccharidosis, and that we must tell ourselves why early diagnosis is essential for a better chance at life.