- Phone: +39 338 451 7154
- Email: ilsorrisonegliocchidirichi@gmail.com
Founded by the initiative of Anna Famà, Riccardo's mother, our story is born from a personal journey of struggle and resilience. This section tells the story of a family that has been able to transform pain into a commitment to create an interdisciplinary model for patients with rare conditions.
"When Riccardo was born, everything seemed fine, "normal" as they are used to say. A sweet and pleasant child, full of vitality, a marvel. I remember that at the age of one he could walk and say his first words. However, when he was about 3 years old, I realized that his language was not progressing. My ‘mother instinct’ led me to want to clearly understand."
CONDBA E210K – UBTF is a childhood-onset neurodegenerative disease, a devastating condition that affects children aged 2 to 7 years. It is described how, despite a normal initial development, a progressive regression of motor and cognitive development occurs, highlighting the key role of the mutation in the UBTF gene.
At Il sorriso negli occhi di Richi believe that a unique disease requires the development of a unique discourse model to promote the discovery of a cure. Our premise is that the solutions for the healing of our children can be found at the interfaces between different disciplines of knowledge. Our task is to create the right connections to find them.
The search for a cure by the “UBTF Collaborative” is not only seen as a monolithic goal to be achieved, namely the complete eradication of the disease, but also as the search for improving the patient's quality of life and supporting it as much as possible..
The sustainability of our activity depends on the contribution of each donor who allows us to finance research and to give continuity to our commitment to children affected by rare diseases.
What are we talking about?
What does research do?
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Years of activity