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Massimo and Norrie: many nos transformed into yeses

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Massimo and Norrie: many nos transformed into yeses

No: two letters that Massimo often heard as a child. «No, he won’t be able to. No, it won’t work. Everyone told us so. He internalized this so much that for years he responded in the same way to any proposal: no”, he says He did, the mother. She and dad Mauro instead they never believed those “no” and thanks to the support of the Lega del Filo d’Oro, today Massimo is a fifteen-year-old who always says yes: «He is an enthusiast, he would like to try everything and do everything», he says.

Massimo was 4 months old when he was diagnosed with Norrie syndrome, a rare genetic disease characterized by total blindness. «At 3 and a half years old the “Lega” welcomed us for the first intensive treatment», recalls the mother. «They immediately set out a path that would enhance and exploit its potential. Then we returned to Osimo four more times.” The best thing, she underlines, is that «here the operators work on the specific person, that is, on Massimo, not on a “type” of user».

The best thing about the Lega del Filo d’Oro is that here the operators work on the specific person, that is, on Massimo, not on a “type” of user

Enza, mother of Massimo, a 15 year old with Norrie syndrome

The age from 6 to 13 is a difficult phase for Massimo, because the gradual loss of hearing is added to the blindness: «The world closes there, there is nothing to do. During those years we accepted and respected his “no, I don’t want to”, but we also encouraged him to throw his heart over the obstacle, continuing to offer him many activities”, recalls his father. «We both asked for a reduction in working hours and smartworking. Massimo’s growth path is our most beautiful career.”

Today Massimo is successfully attending the second year of human sciences high school. Technology helps him a lot in his studies. «It’s beautiful when Massimo shares his reflections on history, on the birth of some rights, on the concept of freedom», say mum and dad. He plays baseball on a team of blind athletes, loves skiing and playing the drums. «The League of the Golden Thread is doing very important work with him on the recognition and processing of emotions», says his mother. But they also started employment activities to make him more independent and start preparing for an independent life: «Today Massimo is better at doing Latin versions than at using a knife at the table…», he smiles Chiara Pattinieducator of the Territorial Service of Lesmo (MB), «we would like her to become equally skilled in the little everyday things».

Massimo is better at Latin versions than at using a knife at the table. Let’s work so that you become equally skilled in the little everyday things

Chiara Pattini, Lega del Filo d’Oro educator

Rare diseases and deafblindness

Massimo’s is just one of the stories that pass through the Lega del Filo d’Oro every day: many, but all unique and special. There are diseases that are named after the doctor who discovered them, such as Usher syndrome, or that summarize the malformations they cause in an acronym, such as Charge syndrome. Others, such as ALG3 or SCN8A, simply indicate the gene that has undergone the mutation. Rare diseases, as a whole, are very many – over 6 thousand according to data from the Istituto Superiore di Sanità – and affect at least 300 million people in the world: in Italy there are around one million rare disease patients. The League of the Golden Thread encounters these diseases on a daily basis, as some of them have become the primary cause of deafblindness and multiple psychosensory impairments: the most widespread are Usher, Norrie, Charge and Goldenhar syndrome. Among the users who arrived at the Osimo Diagnostic Center in 2023, 44% had a rare syndrome.

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Let potential flourish

Whatever the diagnosis, rare or not, the objective of the Lega del Filo d’Oro is in truth always the same: «To glimpse everyone’s potential and make it flourish. Many parents only discover here that they can communicate with their children. The best thing about our job is when we explain to a father or mother that with that particular gesture their child wants to say a specific thing. Their faces light up, because a world opens up to them,” he says Barbara Sasso, educator at the Diagnostic Center. Certainly, when faced with a rare disease, elements such as the complexity of needs and the (often) lack of definitive treatments weigh heavily, although neonatal screenings lately allow for an increasingly timely diagnosis and therefore early management, which can really make the difference.

Many parents only discover here that they can communicate with their children. The best thing about our job is when we explain to a father or mother that with that particular gesture their child wants to say a specific thing. Their faces light up, because a world opens up to them

Barbara Sasso, Lega del Filo d’Oro educator

With the diagnosis of a rare disease, parents find themselves catapulted into a foreign world: financial benefits, regional contributions, services to activate and requests to present, in a jungle of offices and deadlines… «It’s difficult to orient themselves, everything is new for them . Often this part of the new daily life becomes a mountain, an additional burden”, he says Laura Gambelli, who is also a social worker at the Osimo Diagnostic Center. «My job is to accompany parents: inform them of their rights, encourage contacts with local services or initiate them if they aren’t there yet. The objective is to begin to build a life project that goes beyond health aspects but involves all areas and the whole family.”

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Early intervention

Acting promptly often means grasping all the children’s residual abilities and preventing the secondary effects of multiple psychosensory impairments. For this reason, the Lega del Filo d’Oro approaches children under the age of 6 with a three-week early intervention which takes place for everyone at the Osimo Diagnostic Center: here an interdisciplinary team carries out an in-depth assessment of the abilities, potential and characteristics of each child and sets a life plan. Careful observation by the interdisciplinary team allows us to identify and enhance residual skills and potential, which become the levers for building other skills. At the end of the stay, a functional diagnosis and a personalized educational-rehabilitation program are returned which will continue at home, in collaboration with the family and with local services.

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Patrizia Ceccarani, technical-scientific director of the Lega del Filo d’Oro Foundation, explains that «the educational rehabilitation method of the Lega del Filo d’Oro is based on a specific approach to teach children to make the best use of their potential and residual abilities. Furthermore, our operators work to facilitate autonomy, inclusion, the use of assistive technologies and interaction with the environment, and also put the Foundation’s experience at the service of families who, in this process, carry out a crucial role. On the one hand, in fact, they are an integral part of their children’s education and rehabilitation process, on the other they themselves need help, support and closeness to be able to orient themselves in the complex condition of having to take care of a person with multiple disabilities”.

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Throughout your life

If 70% of patients with rare diseases are children, the Lega del Filo d’Oro accompanies and supports people throughout all stages of life. Francesca she is 30 years old, lives in the province of Monza and Brianza, is engaged and has a rare disease: Usher syndrome. She doesn’t see, but she hears thanks to the cochlear implant. In 2019 she graduated in Law from the Bicocca University of Milan. She plays the piano, she loves reading, going to concerts, traveling. She has a profile on all social media: «Technology allows me to stay in touch with people and the world, thanks to the Lega del Filo d’Oro I learned to use the computer and smartphone with speech synthesis», she says she.

For a few months Francesca has been the second employee with deafblindness of the Lega del Filo d’Oro. He works in Lesmo and provides support to the Territorial Service in organizing activities with users and in designing awareness projects aimed at the territory.

«It is very important to make society understand that we people with deafblindness are resources, like all other citizens. We also want to have access to the world of work to make our contribution”, she explains. «When the proposal arrived, I was very happy». His meeting with the Foundation dates back to 2005: «It was my lifeline. Seeing the paths that people older than me had already taken gave me courage. Without the “Lega” and my family I would never have gotten to where I am today.” Her next goal is to go and live alone: ​​«I already had this experience during my university years. We’re about to start renovating a small house, I can’t wait.”

Photo from the Lega del Filo d’Oro press office

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