Rare diseases, a book to tell how to live with achondroplasia

by time news

The book “The roof of the world” dedicated to children and families of those affected by achondroplasia was presented in Milan, the main form of short disproportionate stature. The protagonists of the story are two squirrels, Tollo and Tessa, who face a journey full of adventure to be able to climb Mount Everest. The book was born from the story of the experiences of seven children, which allowed the author Sabina Colloredo and the designer Marco Brancato to create a special story to promote awareness and information on the pathology and on the lives of those affected.. Published by Carthusia Edizioni, with the patronage of Aisac Onlus (Association for the Information and Study of Achondroplasia) and the unconditional contribution of BioMarin Pharmaceutical Italia, “Il Tetto del Mondo” was presented yesterday in the Feltrinelli Duomo bookshop in Milan.

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Achondroplasia is a rare genetic disease that affects the cartilages, causing a decrease in skeletal development and therefore a severe defect in stature. Achondroplasic people usually have a normal sized trunk but shorter limbs than typical body proportions. This pathology therefore mainly implies a short stature, although it can also have a great impact on physical health, as well as on the psychological well-being of those affected.

“Achondroplasia is one of those typical conditions that can lead to problems and repercussions of various kinds, caused precisely by the failure of cartilage to grow – he explains Maria Francesca Bedeschi, professor at the School of Specialization in Medical Genetics and Orthodontics, University of Milan – For example, there may be problems with the development of the spine, such as spinal hyperkyphosis and lumbar hyperlordosis, arching of the extremities, as well as cardiovascular diseases and obesity in age adult. However, achondroplasia is, to all intents and purposes, a condition that needs an integrated and multidisciplinary approach.: in addition to the purely clinical aspect, a fundamental mission is also to support children and families who are faced with the psychological difficulties that this condition brings with it, to ensure a peaceful growth path from every point of view. Also for this reason I have enthusiastically welcomed “Il Tetto del mondo”, as a child-friendly tool, which uses the imagination to face the adventure of growth “.

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The fundamental teaching of this fairy tale is that life is an adventure, a journey that each of us must take step by step, with courage and curiosity., exactly like little Tollo – he says Marco Sessa, president of Aisac onlus (Association for the information and study of achondroplasia) – The most important part of us is not in fact the physical stature, but the ability to look beyond our limits and higher and higher, to face the challenges of the world and achieve our dreams. This is a double path, which involves not only the children but also the parents, whose task is to accompany them on their journey, giving them the right tools to develop their interests, growing together “.

BioMarin Pharmaceutical Italia, a company that has been dealing with rare diseases for years alongside the little ones, actively participated in the project “The roof of the world”: “The roof of the world is a project in which BioMarin believed from the beginning, marrying it without hesitation – he says Maria Tommasi, BioMarin Medical Director Italy – The future is in fact in the hands of children and, with this book, we want to accompany those suffering from achondroplasia on their daily journey., to help, through the metaphor, to acquire strength and awareness of their abilities. Listening to the children who wanted to share their fears, uncertainties and hopes with us was an experience that enriched us from every point of view. For this reason, we want to continue to ensure that “The Roof of the World” is also the protagonist in 2022, through an awareness campaign that will be developed in some key achondroplasia treatment centers “.

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Carthusia has foreseen an edition for the bookshop of the hardcover volume that will be distributed throughout the country, in bookstores and online stores, starting from January 2022. “For thirty years Carthusia has been carrying out special projects, dedicated to children and their families to help them tackle even the most difficult and tiring paths together – he says Patrizia Zerbi, editor and editorial director of Carthusia – In fact, we think that with girls and boys it is possible to talk about everything. To do this, however, it is essential to start from experiences. So, despite the difficulties of the last year, we managed to organize an online meeting involving, with the support of Aisac, seven extraordinary girls and boys who told us so much about them, with such generosity, ease and genuineness that they left us dumbfounded. From their experiences, but also from their fantasies, was born the engaging story of Sabina Colloredo, a great author for children, and the images of the young and talented illustrator Marco Brancato “.

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