by Cristina Trombetti
«Samuel was born in 2015, but the institutions realized that it existed just before elementary school began. This is the chasm in which families like mine are found ». Samuele is one of the thirty children in Italy suffering from Grin2b, a very rare and severe pathology. To tell her story, the difficulties to obtain diagnosis, support and integration is the mother Tiziana: «It does not walk, it does not speak, it must be taken, tries to be understood with vowel sounds or communicates with her eyes indicating where she wants to go. In the family we use symbols – it is called augmentative communication – that we show them to anticipate the activities, to explain to him what he will do. The problem is that Samuele understands everything, understands anything who is said to him but then he cannot bring her out, so in him a huge frustration takes over: in fact he has frequent moments of anger and tears because we do not understand it …
A daily effort, which began in the first months of life of Samuele: “I realized that she did not make the normal stages of development, the pediatrician tried to make me understand but I did not accept it … it was probably a process that had to have its course”. From here begins an process of visits, checks and consultation at specialist structures that years later leads them to know, through a genetic test, the cause of the disorder. A process that is anything but simple and obvious, because often the GRI pathologies are confused with the child cerebral paralysis, as happened to the little Samuele: “The greatest effort was the fact that in this process nobody assisted us, my husband Corrado and I were alone”.
Yet in the moment of diagnosis, which is a very delicate phase, it is essential that there is help: «Receiving a diagnosis of rare disease is an avalanche, it is a rock that must be faced with psychological support. Well, we only found it later, when we had the courage to ask for it. And to think that it should be given to everyone automatically ».
Like many families who find themselves having to face a rare disease, today Tiziana and her husband Corrado be fighting for society to take charge of their needs, which are many, and guarantees full inclusion to Samuele: “The real inclusion is not yet there, we talk so much but the path of families is uphill. I have another smaller child, Edoardo, who attends the second class of primary school. I enrolled it in school with a simple click. Two years of meetings, meetings and preparations were needed to welcome him: this is the weight of inclusion ».
Unlike many mothers who have decided or had to give up work to follow their child with rare disease, Tiziana teaches foreign languages at the first grade secondary school because “we parents also have the right to inclusion and for this reason it is essential that we are guaranteed the possibility of working and being supported in complex family management”. Not only that: she founded with her husband, with other families, with supporters and experts of the Materia Gri Italia, an association that promotes raising awareness and scientific research on rare Groci genetic diseases, acronym for ” Ionotropic glutamate receptors ”, or Ionotropic receptors of glutamate: the correct functioning of these receptors is fundamental for the development of the child, which is compromised in the presence of a mutation in the presence of a mutation. genetics. At the moment Rare Gries have been classified in four subgroups, with similar symptoms but different severity. «The incidence of the disease is of one child out of 5 thousand but in reality we believe it is underestimated, because there is an identification problem that perhaps should be deepened. Certainly the diagnosis of this pathology must be early, much more early than it happens now: in many children it is diagnosed with four, five, six years … it is too late, also because a simple blood sample is enough ».
A phrase by Frida Kahlo is reported on the GRI ITALIA Association website: «I come from another planet. I still see horizons where you draw borders », a warning not to surrender:” I do not hide the very strong concerns for the future, they are enormous, but I believe that if each of us does their own piece, the life of families with a child who has a rare disease could be much easier. I read recently What is a syndrome? by Giovanni Colaneri: it is a book that Samuele’s teachers have chosen to read and deepen with the whole class on the occasion of the rare disease day. Talking about disability is in fact a way to make diversity known and to offer companions many answers to their questions. This is part of the inclusion that Samuele finds at school! It looks like a children’s book, in reality it is a starting point for reflection even for adults, in the sense that a syndrome is many things, it is an abyss, a crisis, a mountain, a randomness but also something unique, a wealth … but above all it is everyone’s responsibility. Samuele does not live only inside her home: she lives in the area, she lives at school, she lives in a community ».
Today Samuele is being treated at our family in Bosisio Parini (LC) and attends the third grade in a public school in Molteno: “He is in a wheelchair and does not speak standardly: his classmates see this difference, but for them it is not an obstacle, it is not a problem, a fear”.
To reach this goal, Tiziana and Corrado involved the Municipality and educational institutions in a teamwork: “I really believe that there is no special school: there is a school that can be enhanced, made up of people who want to do. We have our paradise at school, we wanted it, fortissimally. My husband and I raised the institutions, the municipality and the school, which obviously was frightened at the beginning because Samuele was the first child with this gravity that entered the classroom. Yet they were three very positive years, we found very sensitive teachers, careful and … it can be done ».
To find out more
GRA ITALIA Association
Gri Italia is an association that organizes and promotes activities to raise public awareness and to raise funds to invest in research, on the net with other European organizations on GRI pathologies. The 7th annual conference of Grin Europe will be held in Italy, in Varese, from 17 to 19 October 2025.
https://www.gri-italia.it/
Eugenio Medea Scientific Institute – our family
The Eugenio Medea Scientific Institute – our family deals with rare neurological and neurosviluppo genetic pathologies, which mainly affect children and adolescents, in collaboration with the major patient associations. The offices of Bosisio Parini (LC), Conegliano (TV) and Brindisi are principals of the national rare diseases network.
https://emedea.it/medea/it/
