Gaia loves reading, music and art. She has a soft spot for De Andrè, Elettra Lamborghini and Frida Khalo, after she discovered that the Mexican artist had to use her bust like her. In May she will be 14 years old, she attends lower secondary school ed she is a “very special” girl. Although she can’t read, she spends hours listening to those who can do it for her and still unable to speak she is, as her mother likes to say, “long-winded” because thanks to her podd, a notebook full of symbols and images with which she has learned to communicate, she is a river of words. She is gay, she can’t even walk, she has central respiratory apnea, hypotonia, cognitive delay, chewing and swallowing difficulties. His disease is called Joubert syndrome. The forces constant assistance to eat (via peg and by mouth), wash, walk. «Gaia knows perfectly what she has and she grasps the emotional nuances and situations of her life – explains Eleonora Franchini, the mother, teacher of the Montessori Sorriso primary school in Brescia -. Like all children, he must be able to be happy by actively participating in life but to do this, we parents must learn to look his illness straight in the face. We must know it, learn to live with it knowing that it does not disappear or weaken and that much research is still needed to fight it. Our only way of salvation because, at the moment, there is no cure».
Telethon Foundation and the importance of scientific research
The Joubert syndrome from which Gaia suffers
a disease that primarily affects the development of the cerebellum and brainstem, it is just one of thousands of rare genetic diseases that exist. Diseases with impossible names: Ada-Scid, Dystrophia in Duchenne, Artrogriposi TOR 1°, Syndrome in Wiskott-Aldrich, in Usher, in Klestra, in Phelan McDermid… Many, still, are unnamed, so rare are they and, at the moment, undiagnosable. To give them an answer, the Telethon Foundation has created the Diseases without diagnosis program coordinated at the Telethon Institute of Genetics and Medicine in Pozzuoli (NA) which allows children with complex pediatric diseases and without a diagnosis to access the most sophisticated diagnostic techniques to arrive at a precise genetic classification. With the San Raffaele-Tiget institute in Milan he has instead developed two drugs based on gene therapy able to intervene on the genetic defect. One administration in life and the curative effect is decisive. But the Telethon Foundation has been investing in scientific research for 33 years in order to cure rare genetic diseases. As of today, they are 623.69 million euros invested. With 2,804 funded projects and 1,676 researchers involved. A goal that can now breathe new life thanks to the donations received: 5 million and 270 thousand euros, to be exact, which the Telethon Foundation has raised to finance 35 research projects throughout Italy.
The new research announcement and the winners
In view of the National Day of Rare Diseases (this year on February 28th and concerns diseases whose number of registered cases does not exceed the threshold of 5 cases per 10,000 inhabitants per year), the non-profit announced the 35 winners of the first round of the call open to researchers active throughout the country. “Faced with such serious pathologies and in most cases without treatment and interest, our commitment is to guarantee, with the funding of scientists who represent excellence in their field, constant support for research – he explains Francesca Pasinelli, general director of Fondazione Telethon —. The progress of the research starts from the evaluation of the projects, entrusted to a scientific commission composed of 28 mostly foreign scientists, active in prestigious international institutes».
Nine regions are involved in the winning projects: Lombardywith 11 projects (between Vita-Salute San Raffaele University, University of Milan, University of Pavia, CNR of Neuroscience and Genetic and Biomedical Research); Tuscany5 (University of Florence, University of Pisa and University of Perugia), Veneto, 5 (CNR, Neuroscience Institute of Padua, Veneto Institute of Molecular Medicine, University of Verona); Liguria4 (Italian Institute of Technology of Genoa, National Research Council – CNR of Genoa, University of Genoa); Campania3 (Federico II University of Naples, CEINGE Advanced Biotechnology of Naples); Piedmont3 (San Luigi Gonzaga University Hospital, University of Turin, University of Eastern Piedmont); Friuli Venezia Giulia2 (University of Udine and International School for Advanced Studies) Emilia Romagnaone (University of Modena and Reggio-Emilia) e Lazioone (La Sapienza University of Rome).
The projects
Among the funded projects, a significant portion will go to investigate the still unknown or only partially clarified mechanisms of genetic diseases still without a specific treatment, but there are also projects focused on pathologies already known and studied, such as that of Huntington (the researcher Marta Valenza, of the University of Milan) or the Duchenne muscular dystrophy (Monica Dentice, of the Federico II University of Naples and Bert Blaauw of the Veneto Institute of Molecular Medicine). And then rare and hereditary forms of high diffusion diseases such as that of Alzheimer (Letizia Mariotti of the CNR, Institute of Neurosciences of Padua) and very rare syndromes such as that of Pitt-Hopkins (Michela Ori of the University of Pisa) or of Catel-Mankze (Michela Tonetti, of the University of Genoa). Also there Joubert syndrome from which Gaia suffers will be the subject of study at the University of Verona. The findings will be important in identifying potential new drugs for the disease. «Every person who is affected by it has a picture of her – explains Eleonora Franchini, mother of Gaia -. When Gaia was diagnosed she had 10 months to live. The pediatrician said everything was ok but I’m an educator, I live with children a lot and there were things that didn’t add up for me… It’s not easy. There have been moments of progress and conquests and just as many of regression and loss but looking at the disease can change the vision of life. We, the disease, we live it as if it were a big backpack on our shoulders. To be filled and carried consciously. A burden to “manage” in order to live with dignity”. In 2021, Eleonora was contacted by the Telethon Foundation and the Italian Joubert Syndrome Association (Aisjac), which represents people affected by this syndrome, to participate in the Telethon marathon. «I asked Gaia for her consent but we were unable to participate due to Covid because I was in quarantine – Eleonora says -. But we connected via Skype and I spoke of her thoughts about her: “Hi, I’m Gaia”, she said. “I’m special because I talk to the podd and I have the pram. I’m beautiful'”.
With the weekly «Sette» the stories of the little ones cared for in the Telethon Institutes
In view of the National Day of Rare Diseases (it falls on February 28) tomorrow, February 24, together with the weekly «Sette» of the Corriere della Sera you will find «Telethon Notizie», the non-profit information magazine with the story of children and young people affected by rare genetic diseases to which the gene therapy of the Telethon research institutes has given the possibility of a better future. Salsabil, the first Palestinian girl in the world to be treated with gene therapy for Ada-Shid, a genetic disease that makes the immune system unable to deal with even the most common infections, developed by the SR-Tiget team and applied in an Israeli hospital in Jerusalem. And then Ava and Ella, who live thousands of miles away from each other (London and Providence, the state capital of Rhode Island) and they met in Milan, at the San Raffaele Telethon institute where an experimental gene therapy study is underway for their disease: metachromatic leukodystrophy. And, again, the little Bolivian Abraham; the English twins Oscar and Phelix and the Argentines Ines and Maria; Arshida, Iranian; Alba, Spanish; Rafael, Venezuelan; Adam and Ayman; Griseldi and Thomas… Stories of lives rewritten thanks to scientific research. With the contributions of Beatrice Mautino, Cristiana Capotondi, Erika Brenna, Antonio Polito, Massimiliano Bruno, Margherita De Bac, Flavio Insinna and Massimo Russo.