“Those who have to deal with the world of disability and rare diseases know well that a word can hurt, distance, but also reassure, embrace. With this initiative, therefore, we want the words regarding the syndromes we deal with to be explained to everyone in simple terms”: thus Silvia Cerbarano, president of the Association Assi Gulliver, presents the first glossary of the syndromes of Sotos (“child gigantism”) and Malan, wanted precisely to help the parents understand the words that you will face in the course of the illness of their son or daughter, “One of the goals of our Association is to support the families from the first moment they receive the diagnosis, and the first approach, with the disease it is just with words, so distant and difficult to understand, because far up to that moment in the daily life of each family. Now, those dealing with the world of disability and rare diseases know well the weight of words: a word, in fact, can hurt, distance, but also reassure, embrace. With this initiative, therefore, we want the words that tell the syndromes of which we are explained to you all with simple terms”: so Silvia Cerbarano, president of the AXES Gulliver (Association of the Syndrome Sotos Italy), presents the first glossary of the syndrome, Sotos (also known as “gigantism child”) and the syndrome of Malan (a pathology that resembles the previous one, while being much more rare), wanted to help the parents understand the words that you will face in the course of the illness of their son or daughter.
“A glossary – adds Cerbarano – made with the hearts of moms and dads, as well as with the precious support of our Scientific Committee. In other words, science and communication increasingly united for the good of the sick and families, what one of the main objectives of our association”.
Go then cited the influential members of the Scientific Committee of the AXES Gulliver, who are Domenico Coviello IRCCS Gaslini, Genoa, Donatella Milani, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico di Milano, Manuela Priolo Ospedali Riuniti Bianchi-Melacrino of Reggio Calabria, Luigi Mazzone, Policlinico Tor Vergata university of Rome, Alberto Spaliace of the Policlinico Umberto I of Rome, Enza Raiano of the Hospital of National Importance Cardarelli of Naples and Silvia Youth of the IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico of Milan.
To remember, in conclusion, that the 6th of September will be the International Day of Sotos Syndrome, an event that we will still have the opportunity to talk about on our pages. (S. B.)
We thank Francesca Pucci for her collaboration.
For further information: Francesca Pucci ([email protected]).
The Sotos and Malan syndromes and the Gulliver axis
Sotos Syndrome is a rare genetic disease characterized by excessive growth in childhood, excessive development of the skull (macrocephaly), peculiar appearance of the face, mild to severe intellectual disability, in association with other clinical signs. The frequency is estimated to be between 1: 10,000 and 1: 50,000 live births.
Even rarer is the genetic disease called Malan syndrome, for many years known as “Sotos 2 Syndrome” because of the clinical similarities with the previous one. It is also a hyperaccrussition syndrome, identified in 2010, with a prevalence of one in a million Born, which can present intellectual and cognitive disability to varying degrees.
Hyper-growth, it should be remembered, means global or segmental over-growth in relation to a reference population of the same sex and age. Hyperaccreation usually becomes noticeable within the first months-years of life and is often present already at birth.
ASSI Gulliver is the first Italian Association that brings together the families of people with Sotos Syndrome and Malan syndrome. Its aims include raising awareness on issues such as Rare diseases and disability, promoting scientific research, supporting families and social inclusion of people with the aforementioned syndromes ([email protected]).