Charge syndrome is a rare disease that affects many parts of the body and about which too little is known.
Among the many rare diseases that exist and on which more light should be shed, there is the syndrome of Charge. A genetic syndrome that occurs in 1 in every 10,000 births and can affect different parts of the body. The reason it occurs is the mutation of a gene at the time of conception. Often difficult to diagnose, it is a highly disabling disease and for which a multidisciplinary approach is envisaged. Contrary to popular belief, however, with the right care it is possible to help children who suffer from it achieve unexpected progress and live their lives in the best possible way.
Charge syndrome: the symptoms
Charge syndrome takes its name from the primary pathologies that characterize it and are the basis of the diagnosis. These are:
– C: coloboma (defect of the ocular structure)
– H: heart defects
– A: Artresia of the Choanae (obstructed nasal passages)
– R: Retardation of growth and developmental delay
– G: Genital anomalies (malformations of the genitals)
– E: Ear anonalies (ear malformations)
Among the many symptoms there can also be short stature, poor muscle tone, cleft palate, facial asymmetry, etc … These are considered secondary .
In general, those who suffer from it have a 50% chance of passing it on to any children.
How to cure Charge syndrome
As already mentioned, there is no single cure for this disease for which a multidisciplinary approach is needed. If taken from the beginning, in fact, it is possible to intervene from time to time on the problems that arise, learning to foresee some (such as hormonal ones) to take them in time. This allows for improvements that not everyone is yet able to understand and that can guarantee a life with many more possibilities than is believed to the children who are affected.
To ensure that this happens, it is important, however, that it is recognized as soon as possible. In fact, like Asperger’s syndrome , it is often diagnosed after some time.
In this regard, valid support comes from the Lega del Filo d’Oro which helps families not to feel alone and to have all the information necessary to guarantee their children a life as peaceful as possible and aimed at continuous improvements.
ultimo aggiornamento: 07-09-2020