“We dream of being able to find in Italy the knowledge and trials that are available in the USA today. For this reason we decided to fund a KIF1A association also in Italy, in collaboration with other Italian parents.”
A message from Ale’s family in Italy:
Hi, I’m Ale and I’m six years old. I’m Italian and I live in Brescia (a middle-size town close to Milan) with my mom Benedetta, my dad Ennio, my older brother Davide and Flash, my little dog. I have a pathogenic KIF1A gene mutation. At the moment it is diagnosed in fewer than 30 people in Italy. I love listening to songs, playing with the ball, and having fun in the pool. I also love nibbling! I’m a cuddle magnet and I try to win everyone over with my smile.
The Diagnosis
(A journey of about two years)
The first signs that something wasn’t right appeared when I was about 13 months old. They say I was very sweet, but I didn’t try to stand up, walk, or point at what I wanted. Shortly after, I was diagnosed with autism. In February 2021, genetic testing revealed the name of my disease: KAND (KIF1A Associated Neurological Disorder), of which autism is one of the frequent symptoms.
The Trip to the USA
(Meeting the researchers and KAND families)
In the summer of 2023, I took my first flight and went to New York, where I met the researchers from Columbia University. They examined me and assessed my motor and cognitive abilities. The data collected was included in the KOALA study (a dedicated investigation into the KIF1A gene, which led to a scientific publication). The researchers also reassured my parents about the therapies to follow while waiting for a cure and presented encouraging results from a specific experimental drug that acts on messenger RNA.
It was an incredible experience! I met other children and adults like me. It was touching and enriching. We were able to feel part of a community that shares the same challenges and hopes.
Symptoms and Therapies
(Treatments while waiting for a cure)
Today, I can walk short distances. Even though I don’t speak, I make myself understood through my eyes and gestures. I often feel intense pain in my legs that makes me scream. The medication I take provides temporary relief, although we are looking for other solutions. I also take antiepileptic, mood, and sleep regulators.
Since the age of two, thanks to Professor Costanza Colombi, I’ve contributed to the training of psychomotor therapists to specialize in the Denver Method (for autism in children aged zero to four), which was not well known in Brescia before. Today, I continue to do psychomotor therapy and physiotherapy in the gym and the pool.
School
(Small progress and big goals)
My wonderful teachers are preparing me for first grade.
We started with small things, like holding a spoon properly during meals or giving a high-five to my classmate when we do roll call. They help me make beautiful crafts that I proudly bring home for Mom, Dad, and Grandparents.
