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Matteo’s Story

I am the mother of little Matteo, almost 7 years old, an Italian born in Catania on 5/07/2007. My third-born, from my second pregnancy (the first produced twins), which was complicated by polyhydramnios resulting in delivery by planned caesarean section. No perinatal suffering, nuchal hypotonia at birth.

At three months, apart from hypotonia, Matteo began showing signs of a squint, first in his right eye then the left. At 5 months, an ultrasound carried out at the Gemelli University Polyclinic in Rome detected a dilatation of the pericerebral space. An MRI was carried out, which revealed hypoplasia / atrophy of the cerebellar vermis and hemispheres.

Meanwhile, because there had been a delay in the development of head control, physiotherapy was initiated three times a week. In his first year, a lot of diagnostic exams were carried out in order to understand the etiology. At the age of around one-and-a-half, a muscular biopsy carried out at Bambino Gesù in Rome revealed the presence of enlarged lysosomes; what was suspected as Marinesco–Sjögren syndrome was genetically confirmed as such at the age of two. Since then, checkups and surgeries have been carried out to reduce the impact of the pathology on his quality of life.

After developing cataracts at 5 years old, two surgeries were performed for implanting artificial crystalline lenses and two for the secondary cataracts. According to evaluations, there are no signs of delays to his cognitive development, however his fine and gross motor skills and linguistic ability regarding the articulation of words are lacking to a greater extent. Matteo undergoes physiotherapy, speech therapy (initially also augmentative communication), orthoptics.

He is in the first grade at school, attending for 22 hours a week with the help of a teacher's aide for 22 hours a week and a personal hygiene assistant, as he does not have sphincter control and does not walk. At school, he uses books with large print due to his visual impairment and PCs for writing, although he has learned the basic of writing in block capitals. In the afternoon, he is supported by person specialized in homework, and this year he is learning to play the drums because he has loved music since he was a baby.

Matteo is a tranquil, cheerful, brave, albeit small, boy, who is very well-aware of his difficulty. The bigger problem is the lack of motor skill autonomy, he has only managed to reach the stage of sitting up independently. He is aided by tools to move about, preferring the walker and the stroller, which he controls himself. One fundamental stimulus for his development is the context in which he is placed – church, prayer and the presence of his two brothers Davide and Giacomo, his references, besides his dedicated parents.